LRRTM2

Summary

LRRTM2 (leucine rich repeat transmembrane neuronal 2, HGNC:19409) is a protein-coding gene on chromosome 5q31.2, encoding Leucine-rich repeat transmembrane neuronal protein 2 (O43300). Involved in the development and maintenance of excitatory synapses in the vertebrate nervous system.

Predicted to enable neurexin family protein binding activity. Predicted to be involved in regulation of postsynaptic density assembly. Predicted to act upstream of or within several processes, including long-term synaptic potentiation; negative regulation of receptor internalization; and positive regulation of synapse assembly. Is active in GABA-ergic synapse and postsynaptic specialization membrane.

Source: NCBI Gene 26045 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 3 total — 1 pathogenic
• MANE Select transcript: NM_015564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19409
Approved symbol	LRRTM2
Name	leucine rich repeat transmembrane neuronal 2
Location	5q31.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0416
Ensembl gene	ENSG00000146006
Ensembl biotype	protein_coding
OMIM	610868
Entrez	26045

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000274711, ENST00000518785, ENST00000521094, ENST00000523537

RefSeq mRNA: 1 — MANE Select: NM_015564 NM_015564

CCDS: CCDS47272

Canonical transcript exons

ENST00000274711 — 2 exons

Exon	Start	End
ENSE00000973454	138868921	138874556
ENSE00002135434	138874908	138875335

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 96.68.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1605 / max 396.7823, expressed in 222 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63725	2.0367	159
63724	1.5218	143
63723	0.2981	93
63726	0.2299	91
63722	0.0741	43

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	96.68	gold quality
middle temporal gyrus	UBERON:0002771	95.34	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.85	gold quality
orbitofrontal cortex	UBERON:0004167	94.66	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.12	gold quality
cortical plate	UBERON:0005343	93.93	gold quality
parietal lobe	UBERON:0001872	92.75	gold quality
entorhinal cortex	UBERON:0002728	92.72	gold quality
CA1 field of hippocampus	UBERON:0003881	92.64	gold quality
postcentral gyrus	UBERON:0002581	92.36	gold quality
frontal pole	UBERON:0002795	92.23	gold quality
superior frontal gyrus	UBERON:0002661	91.99	gold quality
pigmented layer of retina	UBERON:0001782	90.91	gold quality
pons	UBERON:0000988	90.89	gold quality
lateral globus pallidus	UBERON:0002476	90.85	gold quality
occipital lobe	UBERON:0002021	90.16	gold quality
corpus callosum	UBERON:0002336	90.02	gold quality
primary visual cortex	UBERON:0002436	89.57	gold quality
superior vestibular nucleus	UBERON:0007227	89.48	gold quality
buccal mucosa cell	CL:0002336	89.09	gold quality
ganglionic eminence	UBERON:0004023	88.96	gold quality
dorsal plus ventral thalamus	UBERON:0001897	88.58	gold quality
ventral tegmental area	UBERON:0002691	88.19	gold quality
substantia nigra pars compacta	UBERON:0001965	87.19	gold quality
Brodmann (1909) area 10	UBERON:0013541	86.79	gold quality
cerebellar vermis	UBERON:0004720	86.50	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.39	gold quality
prefrontal cortex	UBERON:0000451	86.28	gold quality
middle frontal gyrus	UBERON:0002702	85.81	gold quality
medulla oblongata	UBERON:0001896	85.41	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

233 targeting LRRTM2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-34C-5P	99.97	70.45	1577

Literature-anchored findings (GeneRIF, showing 2)

• CTNNA1 and CTNNA2 contain alternative 5’ exons linked to bidirectional promoters that are shared with the antisense oriented LRRTM2 and LRRTM1 genes, respectively. (PMID:21708131)
• The Nrxn1beta-LRRTM2 interface involves Ca(2+)-mediated interactions and overlaps with the Nrxn-neuroligin interface. (PMID:30262834)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	lrrtm2	ENSDARG00000071374
mus_musculus	Lrrtm2	ENSMUSG00000071862
rattus_norvegicus	Lrrtm2	ENSRNOG00000047085
drosophila_melanogaster	Con	FBGN0005775
drosophila_melanogaster	kek3	FBGN0028370
caenorhabditis_elegans	lron-9	WBGENE00011971
caenorhabditis_elegans		WBGENE00020649

Paralogs (22): CHADL (ENSG00000100399), LGI1 (ENSG00000108231), LGR6 (ENSG00000133067), CHAD (ENSG00000136457), LRIG3 (ENSG00000139263), LGR5 (ENSG00000139292), LRIG1 (ENSG00000144749), LRIT1 (ENSG00000148602), LGI2 (ENSG00000153012), LGI4 (ENSG00000153902), LRRC52 (ENSG00000162763), ELFN2 (ENSG00000166897), LGI3 (ENSG00000168481), LRG1 (ENSG00000171236), CPN2 (ENSG00000178772), LRIT3 (ENSG00000183423), LRRC26 (ENSG00000184709), LRIG2 (ENSG00000198799), LGR4 (ENSG00000205213), ELFN1 (ENSG00000225968), LRRC24 (ENSG00000254402), TRIL (ENSG00000255690)

Protein

Protein identifiers

Leucine-rich repeat transmembrane neuronal protein 2 — O43300 (reviewed: O43300)

Alternative names: Leucine-rich repeat neuronal 2 protein

All UniProt accessions (3): E5RHE5, E5RIQ2, O43300

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the development and maintenance of excitatory synapses in the vertebrate nervous system. Regulates surface expression of AMPA receptors and instructs the development of functional glutamate release sites. Acts as a ligand for the presynaptic receptors NRXN1-A and NRXN1-B.

Subunit / interactions. Interacts with DLG4. Interacts with neurexin NRXN1; interaction is mediated by heparan sulfate glycan modification on neurexin.

Subcellular location. Cell membrane. Postsynaptic cell membrane.

Tissue specificity. Expressed in neuronal tissues.

Domain organisation. Synaptogenic effects are mediated by the extracellular LRR region.

Similarity. Belongs to the LRRTM family.

RefSeq proteins (1): NP_056379* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050467	LRFN	Family

Pfam: PF13855

UniProt features (51 total): strand 15, repeat 10, turn 8, helix 5, glycosylation site 4, domain 2, topological domain 2, signal peptide 1, chain 1, short sequence motif 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5Z8X	X-RAY DIFFRACTION	3.15
5Z8Y	X-RAY DIFFRACTION	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43300-F1	79.50	0.61

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (4): 57, 126, 243, 362

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6794361	Neurexins and neuroligins
R-HSA-112316	Neuronal System
R-HSA-6794362	Protein-protein interactions at synapses

MSigDB gene sets: 205 (showing top): GOBP_SYNAPSE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, MORF_ZNF10, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT

GO Biological Process (5): negative regulation of receptor internalization (GO:0002091), synapse organization (GO:0050808), positive regulation of synapse assembly (GO:0051965), long-term synaptic potentiation (GO:0060291), regulation of postsynaptic density assembly (GO:0099151)

GO Molecular Function (2): neurexin family protein binding (GO:0042043), protein binding (GO:0005515)

GO Cellular Component (12): obsolete extracellular space (GO:0005615), excitatory synapse (GO:0060076), Schaffer collateral - CA1 synapse (GO:0098685), hippocampal mossy fiber to CA3 synapse (GO:0098686), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), postsynaptic specialization membrane (GO:0099634), plasma membrane (GO:0005886), membrane (GO:0016020), synapse (GO:0045202), postsynaptic membrane (GO:0045211)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Protein-protein interactions at synapses	1
Neuronal System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
synapse	4
postsynaptic membrane	2
synaptic membrane	2
regulation of receptor internalization	1
receptor internalization	1
negative regulation of receptor-mediated endocytosis	1
cell junction organization	1
synapse assembly	1
positive regulation of nervous system development	1
regulation of synapse assembly	1
positive regulation of cell junction assembly	1
regulation of synaptic plasticity	1
positive regulation of synaptic transmission	1
postsynaptic density assembly	1
regulation of postsynaptic specialization assembly	1
regulation of excitatory synapse assembly	1
regulation of postsynaptic density organization	1
signaling receptor binding	1
binding	1
thorny excrescence	1
neuron to neuron synapse	1
hippocampal mossy fiber expansion	1
postsynaptic density	1
postsynaptic specialization membrane	1
postsynaptic specialization	1
membrane	1
cell periphery	1
cellular anatomical structure	1
cell junction	1
postsynapse	1

Protein interactions and networks

STRING

1400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRTM2	NRXN1	Q9ULB1	992
LRRTM2	NRXN2	Q9P2S2	977
LRRTM2	CEMIP2	Q9UHN6	924
LRRTM2	DLG4	P78352	891
LRRTM2	NLGN1	Q8N2Q7	806
LRRTM2	NXN	Q6DKJ4	801
LRRTM2	CTNNA1	P35221	730
LRRTM2	NLGN4X	Q8N0W4	717
LRRTM2	NRXN3	Q9Y4C0	714
LRRTM2	NLGN3	Q9NZ94	712
LRRTM2	CBLN1	P02682	688
LRRTM2	NLGN2	Q8NFZ4	649
LRRTM2	GRIA2	P42262	572
LRRTM2	GPC4	O75487	529
LRRTM2	CADM1	Q9BY67	527

IntAct

28 interactions, top by confidence:

A	B	Type	Score
NRXN1	LRRTM2	psi-mi:“MI:0407”(direct interaction)	0.690
NRXN1	LRRTM2	psi-mi:“MI:0915”(physical association)	0.690
LRRTM2	NRXN1	psi-mi:“MI:0915”(physical association)	0.690
LRRTM2	NRXN1	psi-mi:“MI:0407”(direct interaction)	0.690
TNF	LRRTM2	psi-mi:“MI:0915”(physical association)	0.560
TMEM120B	LRRTM2	psi-mi:“MI:0915”(physical association)	0.560
LRRTM2	TNF	psi-mi:“MI:0915”(physical association)	0.560
LRRTM2	GPC3	psi-mi:“MI:0914”(association)	0.530
LRRTM2	NRXN1	psi-mi:“MI:0407”(direct interaction)	0.440
LRRTM2	FGFR4	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	IGDCC4	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	MICA	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	NRG2	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	OSCAR	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	PRTG	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	SEMA4G	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	TREML2	psi-mi:“MI:0915”(physical association)	0.400
LRRTM2	UNC5A	psi-mi:“MI:0915”(physical association)	0.400
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRTM2	PTPRD	psi-mi:“MI:0914”(association)	0.350
DCAF4	IGLL5	psi-mi:“MI:0914”(association)	0.350
TTI2	LRRTM2	psi-mi:“MI:0914”(association)	0.350
TMEM120B	LRRTM2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): ACTA2 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), TYW1 (Affinity Capture-MS), TOMM40 (Affinity Capture-MS), TMEM38B (Affinity Capture-MS), GPC3 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), PDE3B (Affinity Capture-MS), PTPRD (Affinity Capture-MS), ST7 (Affinity Capture-MS), TMEM38B (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), GPC3 (Affinity Capture-MS)

ESM2 similar proteins: A0N0X6, A4IIW9, B0BLW3, B1H134, B1H234, B4F7C5, D3ZAL8, D3ZTV3, D4A7P2, E5DHB5, F1NUK7, F7D3V9, O43155, O43300, O94898, P58681, Q32Q07, Q3SXY7, Q3URE9, Q504C1, Q50L44, Q52KR2, Q5R482, Q5R6T0, Q5RDJ4, Q61809, Q66HV9, Q6RKD8, Q6UXK5, Q70AK3, Q7L985, Q80XG9, Q80ZD7, Q80ZD8, Q80ZD9, Q86VH4, Q86VH5, Q8BGA3, Q8BGT1, Q8BLU0

Diamond homologs: A1A4H9, B4F7C5, D3ZAL8, D4A6D8, D4A7P2, O43300, O75093, P58874, Q5R6B1, Q80XG9, Q86UE6, Q86VH4, Q86VH5, Q8BGA3, Q8BZ81, Q8C2S7, Q8K377, Q920A0, Q9BGP6, Q9UBM4, O02678, Q3ZBN5, Q99MQ4, Q9BXN1, Q80ZD7, Q80ZD8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

3 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3381259	NC_000005.9:g.(?138117614)(138269778_?)del	Pathogenic

SpliceAI

340 predictions. Top by Δscore:

Variant	Effect	Δscore
5:138873017:T:TA	donor_gain	0.9800
5:138873017:TC:T	donor_gain	0.9800
5:138873015:CT:C	donor_gain	0.9700
5:138873016:TT:T	donor_gain	0.9700
5:138872979:A:AC	donor_gain	0.9600
5:138872980:T:C	donor_gain	0.9600
5:138872979:AT:A	donor_gain	0.9500
5:138874906:A:AC	donor_gain	0.9400
5:138874907:C:CC	donor_gain	0.9400
5:138874906:AC:A	donor_gain	0.9300
5:138874907:CC:C	donor_gain	0.9300
5:138873020:CATT:C	donor_gain	0.9200
5:138869172:T:C	acceptor_gain	0.9000
5:138874902:ACTT:A	donor_loss	0.9000
5:138874903:CTT:C	donor_loss	0.9000
5:138874904:TTACC:T	donor_loss	0.9000
5:138874905:TAC:T	donor_loss	0.9000
5:138874907:C:T	donor_loss	0.9000
5:138875164:C:CT	donor_gain	0.9000
5:138875181:G:C	donor_gain	0.9000
5:138875237:A:C	donor_gain	0.9000
5:138871239:T:TA	donor_gain	0.8600
5:138871240:A:AA	donor_gain	0.8600
5:138875165:C:CT	donor_gain	0.8600
5:138874906:ACC:A	donor_gain	0.8200
5:138874907:CCC:C	donor_gain	0.8200
5:138875163:TC:T	donor_gain	0.8100
5:138872975:A:AC	donor_gain	0.8000
5:138872976:C:CC	donor_gain	0.8000
5:138873294:CCCG:C	donor_gain	0.7900

AlphaMissense

3396 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:138873544:G:C	C339W	1.000
5:138873545:C:G	C339S	1.000
5:138873546:A:G	C339R	1.000
5:138873546:A:T	C339S	1.000
5:138873622:C:A	W313C	1.000
5:138873622:C:G	W313C	1.000
5:138873624:A:G	W313R	1.000
5:138873624:A:T	W313R	1.000
5:138873932:A:G	L210P	1.000
5:138873545:C:T	C339Y	0.999
5:138873616:G:C	C315W	0.999
5:138873617:C:G	C315S	0.999
5:138873617:C:T	C315Y	0.999
5:138873618:A:G	C315R	0.999
5:138873618:A:T	C315S	0.999
5:138873628:A:C	N311K	0.999
5:138873628:A:T	N311K	0.999
5:138873700:G:C	N287K	0.999
5:138873700:G:T	N287K	0.999
5:138873716:A:G	L282P	0.999
5:138873772:A:C	N263K	0.999
5:138873772:A:T	N263K	0.999
5:138873782:A:G	L260P	0.999
5:138873788:A:G	L258P	0.999
5:138873844:G:C	N239K	0.999
5:138873844:G:T	N239K	0.999
5:138873845:T:A	N239I	0.999
5:138873846:T:A	N239Y	0.999
5:138873860:A:G	L234P	0.999
5:138873916:G:C	N215K	0.999

dbSNP variants (sampled 300 via entrez): RS1000132696 (5:138870732 A>G), RS1000140136 (5:138873394 A>G), RS1000185378 (5:138871019 G>A,C), RS1001103460 (5:138875460 C>G,T), RS1001554822 (5:138875250 A>G), RS1001930834 (5:138877066 T>G), RS1001931905 (5:138875186 T>C), RS1002088357 (5:138869794 CTT>C), RS1002384349 (5:138874805 A>G), RS1002595650 (5:138871762 G>A,C), RS1003557961 (5:138868494 A>G), RS1003597731 (5:138873267 A>G), RS1003654921 (5:138872794 A>G), RS1004007723 (5:138870375 T>C), RS1004123514 (5:138870654 A>G)

Disease associations

OMIM: gene MIM:610868 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): hereditary neoplastic syndrome (MONDO:0015356)

Orphanet (1): Inherited cancer-predisposing syndrome (Orphanet:140162)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010725_68	Malaria	4.000000e-07
GCST010725_7	Malaria	2.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
sodium arsenite	affects expression	1
bisphenol S	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	increases expression	1
Lead	affects expression	1
Tretinoin	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

29 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00001496	Not specified	COMPLETED	Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast Cancer
NCT00001898	Not specified	COMPLETED	Microarray Analysis for Human Genetic Disease
NCT00026884	Not specified	RECRUITING	Collection of Serum and Tissue Samples From Patients With Biopsy-Proved or Suspected Malignant Disease
NCT02289326	Not specified	COMPLETED	Biomarker Monitoring in TP53 Mutation Carriers
NCT02958462	Not specified	RECRUITING	Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
NCT03160274	Not specified	RECRUITING	Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
NCT03426878	Not specified	COMPLETED	Cancer Health Assessments Reaching Many
NCT03857594	Not specified	ACTIVE_NOT_RECRUITING	Integrative Sequencing In Germline and Hereditary Tumours
NCT03973450	Not specified	UNKNOWN	Epidemiology of Pituitary Tumours: Prevalence of Associated Neoplasia
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