TMEM240
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Summary
TMEM240 (transmembrane protein 240, HGNC:25186) is a protein-coding gene on chromosome 1p36.33, encoding Transmembrane protein 240 (Q5SV17).
This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21.
Source: NCBI Gene 339453 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spinocerebellar ataxia type 21 (Definitive, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 159 total — 3 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 41
- MANE Select transcript:
NM_001114748
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25186 |
| Approved symbol | TMEM240 |
| Name | transmembrane protein 240 |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000205090 |
| Ensembl biotype | protein_coding |
| OMIM | 616101 |
| Entrez | 339453 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000378733, ENST00000624426
RefSeq mRNA: 1 — MANE Select: NM_001114748
NM_001114748
CCDS: CCDS44040
Canonical transcript exons
ENST00000378733 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001478554 | 1534778 | 1535507 |
| ENSE00001478557 | 1540290 | 1540624 |
| ENSE00001658110 | 1535589 | 1535797 |
| ENSE00001661100 | 1539684 | 1539790 |
Expression profiles
Bgee: expression breadth ubiquitous, 129 present calls, max score 94.33.
FANTOM5 (CAGE): breadth broad, TPM avg 1.1881 / max 55.2992, expressed in 521 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9792 | 1.1083 | 491 |
| 9791 | 0.0797 | 34 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 94.33 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.49 | gold quality |
| cerebellum | UBERON:0002037 | 93.44 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.42 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.66 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.16 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.78 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.68 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.38 | gold quality |
| cortical plate | UBERON:0005343 | 90.20 | gold quality |
| putamen | UBERON:0001874 | 90.16 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.62 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.27 | gold quality |
| caudate nucleus | UBERON:0001873 | 89.14 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.44 | gold quality |
| temporal lobe | UBERON:0001871 | 87.46 | gold quality |
| amygdala | UBERON:0001876 | 87.33 | gold quality |
| hypothalamus | UBERON:0001898 | 85.62 | gold quality |
| brain | UBERON:0000955 | 85.33 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.15 | gold quality |
| substantia nigra | UBERON:0002038 | 82.82 | gold quality |
| body of uterus | UBERON:0009853 | 82.77 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.42 | gold quality |
| pituitary gland | UBERON:0000007 | 82.39 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.39 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 82.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 82.16 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.00 | gold quality |
| right ovary | UBERON:0002118 | 81.97 | gold quality |
| lower esophagus | UBERON:0013473 | 81.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.82 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting TMEM240, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-4782-5P | 98.35 | 69.33 | 1474 |
| HSA-MIR-5706 | 98.35 | 69.33 | 1463 |
| HSA-MIR-6509-3P | 98.32 | 67.33 | 1343 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-27A-5P | 97.01 | 65.63 | 528 |
| HSA-MIR-6762-5P | 96.55 | 64.62 | 972 |
| HSA-MIR-6845-5P | 96.55 | 64.65 | 969 |
| HSA-MIR-4640-3P | 94.58 | 63.02 | 263 |
| HSA-MIR-10396A-3P | 93.99 | 62.06 | 94 |
| HSA-MIR-10396B-3P | 93.99 | 62.06 | 94 |
| HSA-MIR-4258 | 90.68 | 62.19 | 164 |
Literature-anchored findings (GeneRIF, showing 8)
- A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. (PMID:12402269)
- The causative mutation of spinocerebellar ataxia 21 is the transmembrane protein gene TMEM240 (PMID:25070513)
- SCA21 is a multisystem disorder with substantial extra-cerebellar involvement, but cognitive impairment is not an obligatory feature of the disease. (PMID:30522958)
- The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals. (PMID:32002801)
- Hypermethylation and decreased expression of TMEM240 are potential early-onset biomarkers for colorectal cancer detection, poor prognosis, and early recurrence prediction. (PMID:32398064)
- Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body. (PMID:32535204)
- Hypermethylation of TMEM240 predicts poor hormone therapy response and disease progression in breast cancer. (PMID:35715741)
- Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. (PMID:38617829)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem240a | ENSDARG00000087916 |
| danio_rerio | tmem240b | ENSDARG00000090145 |
| mus_musculus | Tmem240 | ENSMUSG00000084845 |
| rattus_norvegicus | Tmem240 | ENSRNOG00000066137 |
Protein
Protein identifiers
Transmembrane protein 240 — Q5SV17 (reviewed: Q5SV17)
All UniProt accessions (2): A0A096LNN7, Q5SV17
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Synapse. Cell membrane.
Disease relevance. Spinocerebellar ataxia 21 (SCA21) [MIM:607454] A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the TMEM240 family.
RefSeq proteins (1): NP_001108220* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027947 | TMEM240 | Family |
Pfam: PF15207
UniProt features (9 total): sequence variant 5, transmembrane region 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5SV17-F1 | 58.48 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 169
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 79 (showing top):
GOCC_EXCITATORY_SYNAPSE, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GOCC_POSTSYNAPTIC_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOCC_SYNAPTIC_MEMBRANE, chr1p36, GOCC_PARALLEL_FIBER_TO_PURKINJE_CELL_SYNAPSE, GOCC_POSTSYNAPTIC_DENSITY_MEMBRANE, GOCC_GLUTAMATERGIC_SYNAPSE, GOCC_NEURON_TO_NEURON_SYNAPSE, GOCC_ASYMMETRIC_GLUTAMATERGIC_EXCITATORY_SYNAPSE, GOCC_POSTSYNAPTIC_SPECIALIZATION_MEMBRANE, IGLV5_37_TARGET_GENES, SNRNP70_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (8): synaptic membrane (GO:0097060), parallel fiber to Purkinje cell synapse (GO:0098688), postsynaptic density membrane (GO:0098839), cerebellar climbing fiber to Purkinje cell synapse (GO:0150053), TMEM240-body (GO:0160045), plasma membrane (GO:0005886), membrane (GO:0016020), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synapse | 1 |
| plasma membrane region | 1 |
| excitatory synapse | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| asymmetric, glutamatergic, excitatory synapse | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
326 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM240 | ATXN10 | Q9UBB4 | 577 |
| TMEM240 | AFG3L2 | Q9Y4W6 | 528 |
| TMEM240 | FGF14 | Q92915 | 480 |
| TMEM240 | PRKCG | P05129 | 479 |
| TMEM240 | SPTBN2 | O15020 | 474 |
| TMEM240 | KCNC3 | Q14003 | 474 |
| TMEM240 | KCND3 | Q9UK17 | 473 |
| TMEM240 | ATXN7 | O15265 | 431 |
| TMEM240 | PPP2R2B | Q00005 | 420 |
| TMEM240 | ZFP64 | Q9NTW7 | 419 |
| TMEM240 | CACNA1A | P78510 | 398 |
| TMEM240 | DAB1 | O75553 | 396 |
| TMEM240 | PLEKHG4 | Q58EX7 | 393 |
| TMEM240 | OPLAH | O14841 | 374 |
| TMEM240 | ZNF836 | Q6ZNA1 | 373 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A0A1B4XBI5, A0A482ASA5, A0MD34, A0MD35, A5PJ65, B2RWJ3, K9N7A1, O15258, O48670, O74512, O87787, O90305, P04135, P09175, P09298, P0C781, P0C782, P0C786, P0C787, P0DUR6, P22170, P24412, P27904, P28959, P28991, P30248, P33464, P36299, P37989, P68334, P84400, Q00138, Q00479, Q04565, Q04569, Q04582, Q08552, Q1KZ54, Q498C8, Q54753
Diamond homologs: B2RWJ3, Q5SV17
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
159 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 77 |
| Likely benign | 49 |
| Benign | 16 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1341993 | GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 | Pathogenic |
| 161193 | NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter) | Pathogenic |
| 3391839 | GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3 | Pathogenic |
| 1027486 | NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln) | Likely pathogenic |
SpliceAI
734 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1535504:CCAT:C | acceptor_gain | 0.9900 |
| 1:1535505:CATC:C | acceptor_gain | 0.9900 |
| 1:1535508:C:CC | acceptor_gain | 0.9900 |
| 1:1535582:CACT:C | donor_loss | 0.9900 |
| 1:1535583:ACTC:A | donor_loss | 0.9900 |
| 1:1535584:CT:C | donor_loss | 0.9900 |
| 1:1535585:TCAC:T | donor_loss | 0.9900 |
| 1:1535586:CAC:C | donor_loss | 0.9900 |
| 1:1535587:A:AC | donor_gain | 0.9900 |
| 1:1535587:ACCGT:A | donor_loss | 0.9900 |
| 1:1535588:C:CC | donor_gain | 0.9900 |
| 1:1535766:CGTCG:C | acceptor_gain | 0.9900 |
| 1:1535769:CG:C | acceptor_gain | 0.9900 |
| 1:1535770:G:C | acceptor_gain | 0.9900 |
| 1:1539678:ACTCA:A | donor_loss | 0.9900 |
| 1:1539679:CT:C | donor_loss | 0.9900 |
| 1:1539681:C:CC | donor_loss | 0.9900 |
| 1:1539682:A:AC | donor_gain | 0.9900 |
| 1:1539682:ACCGG:A | donor_gain | 0.9900 |
| 1:1539683:C:CC | donor_gain | 0.9900 |
| 1:1539683:C:CT | donor_loss | 0.9900 |
| 1:1539683:CCGG:C | donor_gain | 0.9900 |
| 1:1539683:CCGGC:C | donor_gain | 0.9900 |
| 1:1535503:GCCAT:G | acceptor_gain | 0.9800 |
| 1:1535504:CCATC:C | acceptor_gain | 0.9800 |
| 1:1535505:CAT:C | acceptor_gain | 0.9800 |
| 1:1535507:TCT:T | acceptor_loss | 0.9800 |
| 1:1535508:C:CG | acceptor_loss | 0.9800 |
| 1:1535509:T:A | acceptor_loss | 0.9800 |
| 1:1535581:GCACT:G | donor_loss | 0.9800 |
AlphaMissense
1145 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1535673:C:G | G97R | 1.000 |
| 1:1535685:C:G | G93R | 1.000 |
| 1:1535685:C:T | G93R | 1.000 |
| 1:1539740:G:C | N36K | 1.000 |
| 1:1539740:G:T | N36K | 1.000 |
| 1:1535659:G:C | S101R | 0.999 |
| 1:1535659:G:T | S101R | 0.999 |
| 1:1535661:T:G | S101R | 0.999 |
| 1:1535672:C:T | G97D | 0.999 |
| 1:1535681:A:G | L94P | 0.999 |
| 1:1535684:C:T | G93E | 0.999 |
| 1:1535693:A:G | L90P | 0.999 |
| 1:1539695:G:C | C51W | 0.999 |
| 1:1539696:C:T | C51Y | 0.999 |
| 1:1539701:G:C | C49W | 0.999 |
| 1:1539702:C:T | C49Y | 0.999 |
| 1:1539703:A:G | C49R | 0.999 |
| 1:1539718:C:A | G44C | 0.999 |
| 1:1539747:A:G | F34S | 0.999 |
| 1:1539771:T:A | D26V | 0.999 |
| 1:1535685:C:A | G93W | 0.998 |
| 1:1539689:A:C | C53W | 0.998 |
| 1:1539690:C:T | C53Y | 0.998 |
| 1:1539696:C:A | C51F | 0.998 |
| 1:1539696:C:G | C51S | 0.998 |
| 1:1539697:A:G | C51R | 0.998 |
| 1:1539697:A:T | C51S | 0.998 |
| 1:1539702:C:G | C49S | 0.998 |
| 1:1539703:A:T | C49S | 0.998 |
| 1:1539717:C:A | G44V | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000224402 (1:1542576 A>G), RS1000385463 (1:1538392 G>A,C), RS1000613929 (1:1541939 A>G), RS1000965654 (1:1538981 G>A), RS1001081804 (1:1539123 T>C), RS1001124110 (1:1537515 G>T), RS1001413772 (1:1538254 A>G,T), RS1001505289 (1:1534597 G>A,T), RS1001536476 (1:1534739 C>A,T), RS1001990456 (1:1540648 T>C), RS1002289519 (1:1541023 GC>G), RS1002367933 (1:1542299 C>G,T), RS1002550031 (1:1539651 C>G,T), RS1002603844 (1:1539939 G>C), RS1002781884 (1:1536143 C>T)
Disease associations
OMIM: gene MIM:616101 | disease phenotypes: MIM:607454, MIM:607872, MIM:616719
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spinocerebellar ataxia type 21 | Definitive | Autosomal dominant |
Mondo (5): spinocerebellar ataxia type 21 (MONDO:0011833), chromosome 1p36 deletion syndrome (MONDO:0011929), neurodevelopmental disorder (MONDO:0700092), acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744), intellectual disability (MONDO:0001071)
Orphanet (4): Spinocerebellar ataxia type 21 (Orphanet:98773), 1p36 deletion syndrome (Orphanet:1606), Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (Orphanet:466794), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
41 total (30 of 41 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000486 | Strabismus |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000639 | Nystagmus |
| HP:0000651 | Diplopia |
| HP:0000708 | Atypical behavior |
| HP:0000718 | Aggressive behavior |
| HP:0000741 | Apathy |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001268 | Mental deterioration |
| HP:0001272 | Cerebellar atrophy |
| HP:0001300 | Parkinsonism |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0002063 | Rigidity |
| HP:0002066 | Gait ataxia |
| HP:0002070 | Limb ataxia |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0002080 | Intention tremor |
| HP:0002168 | Scanning speech |
| HP:0002174 | Postural tremor |
| HP:0002188 | Delayed CNS myelination |
| HP:0002304 | Akinesia |
| HP:0002396 | Cogwheel rigidity |
| HP:0003596 | Middle age onset |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_34 | Body mass index | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C535362 | Chromosome 1p36 Deletion Syndrome (supp.) | |
| C537200 | Spinocerebellar ataxia 21 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Catechin | increases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
298 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
| NCT02381457 | Not specified | COMPLETED | SNP-based Microdeletion and Aneuploidy RegisTry (SMART) |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
Related Atlas pages
- Associated diseases: spinocerebellar ataxia type 21
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, chromosome 1p36 deletion syndrome, spinocerebellar ataxia type 21