ANKRD31

Summary

ANKRD31 (ankyrin repeat domain 31, HGNC:26853) is a protein-coding gene on chromosome 5q13.3, encoding Ankyrin repeat domain-containing protein 31 (Q8N7Z5). Required for DNA double-strand breaks (DSBs) formation during meiotic recombination.

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype.

Source: NCBI Gene 256006 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited primary ovarian failure (Strong, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 268 total — 2 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001372053

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26853
Approved symbol	ANKRD31
Name	ankyrin repeat domain 31
Location	5q13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ40191
Ensembl gene	ENSG00000145700
Ensembl biotype	protein_coding
OMIM	618423
Entrez	256006

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000274361, ENST00000504022, ENST00000506364, ENST00000674120

RefSeq mRNA: 2 — MANE Select: NM_001372053 NM_001164443, NM_001372053

CCDS: CCDS47233, CCDS93735

Canonical transcript exons

ENST00000506364 — 26 exons

Exon	Start	End
ENSE00000971731	75168979	75169121
ENSE00001031321	75193311	75193591
ENSE00001031323	75188493	75188648
ENSE00001031327	75192667	75192776
ENSE00001220707	75195631	75196200
ENSE00001220713	75199631	75199674
ENSE00001220721	75206411	75206487
ENSE00001220728	75210828	75210865
ENSE00001220733	75222249	75222358
ENSE00001220738	75230562	75230635
ENSE00001220744	75145987	75147505
ENSE00001220748	75236583	75236878
ENSE00002045148	75068297	75068664
ENSE00003459378	75080568	75080639
ENSE00003467870	75137856	75137998
ENSE00003468014	75118135	75118297
ENSE00003470466	75091261	75091401
ENSE00003473114	75104228	75105218
ENSE00003539772	75148576	75148628
ENSE00003543374	75084272	75084374
ENSE00003551822	75107521	75107617
ENSE00003566137	75154201	75154345
ENSE00003615890	75138846	75138983
ENSE00003643556	75116566	75116681
ENSE00003661460	75112513	75112600
ENSE00003709850	75144001	75144171

Expression profiles

Bgee: expression breadth broad, 90 present calls, max score 85.27.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4962 / max 15.8044, expressed in 277 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62126	0.4962	277

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.27	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.32	gold quality
superficial temporal artery	UBERON:0001614	71.60	gold quality
right testis	UBERON:0004534	70.75	gold quality
left testis	UBERON:0004533	68.90	gold quality
testis	UBERON:0000473	68.87	gold quality
gingival epithelium	UBERON:0001949	64.32	gold quality
gingiva	UBERON:0001828	60.07	gold quality
cortical plate	UBERON:0005343	59.20	gold quality
lower lobe of lung	UBERON:0008949	59.12	silver quality
mucosa of paranasal sinus	UBERON:0005030	58.65	gold quality
epithelium of nasopharynx	UBERON:0001951	58.52	gold quality
calcaneal tendon	UBERON:0003701	58.00	gold quality
ventricular zone	UBERON:0003053	57.77	silver quality
vena cava	UBERON:0004087	57.70	gold quality
cerebellar vermis	UBERON:0004720	57.10	gold quality
colonic epithelium	UBERON:0000397	56.83	gold quality
lower esophagus mucosa	UBERON:0035834	55.32	gold quality
mammary duct	UBERON:0001765	53.56	gold quality
seminal vesicle	UBERON:0000998	51.91	gold quality
tendon	UBERON:0000043	51.66	gold quality
bone marrow cell	CL:0002092	51.62	gold quality
quadriceps femoris	UBERON:0001377	51.57	gold quality
islet of Langerhans	UBERON:0000006	50.78	gold quality
prefrontal cortex	UBERON:0000451	50.67	gold quality
buccal mucosa cell	CL:0002336	50.52	gold quality
right uterine tube	UBERON:0001302	50.06	gold quality
vastus lateralis	UBERON:0001379	49.96	gold quality
tonsil	UBERON:0002372	49.21	gold quality
sural nerve	UBERON:0015488	48.65	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting ANKRD31, 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-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-550B-2-5P	96.56	64.61	646
HSA-MIR-601	95.98	67.59	421

Literature-anchored findings (GeneRIF, showing 2)

• We determined that the other patients harbored mutations in genes that have not previously been linked to RTT or other neurodevelopmental syndromes, such as the ankyrin repeat containing protein ANKRD31 or the neuronal acetylcholine receptor subunit alpha-5 (CHRNA5). (PMID:27541642)
• Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency. (PMID:34257419)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd31	ENSMUSG00000109561
rattus_norvegicus	Ankrd31	ENSRNOG00000025321
drosophila_melanogaster	pain	FBGN0060296

Paralogs (3): ANKRD36 (ENSG00000135976), ANKRD36C (ENSG00000174501), ANKRD36B (ENSG00000196912)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 31 — Q8N7Z5 (reviewed: Q8N7Z5)

All UniProt accessions (3): A0A669KAY2, D6RJB7, Q8N7Z5

UniProt curated annotations — full annotation on UniProt →

Function. Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes.

Subunit / interactions. Interacts with REC114; the interaction is direct. Interacts with IHO1.

Subcellular location. Nucleus. Chromosome.

RefSeq proteins (2): NP_001157915, NP_001358982* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR040843	RAMA	Domain
IPR042334	ANKRD31	Family

Pfam: PF12796, PF18755

UniProt features (27 total): region of interest 7, compositionally biased region 7, repeat 6, sequence variant 4, chain 1, sequence conflict 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7Z5-F1	43.08	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_HOMOLOGOUS_CHROMOSOME_PAIRING_AT_MEIOSIS, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE

GO Biological Process (5): homologous chromosome pairing at meiosis (GO:0007129), meiotic DNA double-strand break formation involved in reciprocal meiotic recombination (GO:0010780), positive regulation of meiotic DNA double-strand break formation (GO:1903343), DNA recombination (GO:0006310), meiotic cell cycle (GO:0051321)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
meiotic DNA double-strand break formation	2
homologous chromosome segregation	1
chromosome organization involved in meiotic cell cycle	1
reciprocal meiotic recombination	1
positive regulation of DNA metabolic process	1
positive regulation of cell cycle process	1
regulation of meiotic DNA double-strand break formation	1
positive regulation of reproductive process	1
DNA metabolic process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1107 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD31	REC114	Q7Z4M0	940
ANKRD31	IHO1	Q8IYA8	870
ANKRD31	MEI1	Q5TIA1	777
ANKRD31	MEI4	A8MW99	743
ANKRD31	TOP6BL	Q8N6T0	636
ANKRD31	HORMAD1	Q86X24	574
ANKRD31	SYCE1	Q8N0S2	566
ANKRD31	SPO11	Q9Y5K1	565
ANKRD31	PRDM9	Q9NQV7	550
ANKRD31	SYCP1	Q15431	529
ANKRD31	HORMAD2	Q8N7B1	493
ANKRD31	ZNF620	Q6ZNG0	478
ANKRD31	CBY3	A6NI87	473
ANKRD31	HSF2BP	O75031	447
ANKRD31	SYCP3	Q8IZU3	437

IntAct

6 interactions, top by confidence:

A	B	Type	Score
ANKRD31	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
ANKRD31	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
CDK11A	APOA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): HIST1H2AH (Proximity Label-MS), ANKRD31 (Proximity Label-MS), ANKRD31 (Affinity Capture-MS), ANKRD31 (Affinity Capture-MS), ANKRD31 (Affinity Capture-MS), ANKRD31 (Two-hybrid)

ESM2 similar proteins: A0A087WRU1, A0JNH1, A2RUB1, A6QNQ6, B0S6S9, B1WC58, D3Z987, D3ZJ47, E1BC15, O60673, P28358, P28359, P56716, P70347, Q0P5X5, Q0VAV2, Q0VBV7, Q15468, Q2M2Z5, Q3UXL4, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5QGS0, Q5T1N1, Q5VWN6, Q60988, Q61493, Q62924, Q6ZP01, Q6ZU52, Q6ZVD7, Q80U59, Q80WQ8, Q86WS4, Q86YC2, Q8CB14, Q8IUR6

Diamond homologs: A0A140LI88, Q8N7Z5, Q0P5B9, Q10225, Q4I8B6, Q4X251, Q53RE8, Q54KH3, Q5I1X5, Q5M9H0, Q5XIU1, Q7S3M5, Q7XUW4, Q7Z8U2, Q86WC6, Q8WUF5, Q969K4, Q99LJ2, Q9CZK6, Q9D119, Q9D2X0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	229
Likely benign	26
Benign	3

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1120014	NM_001372053.1(ANKRD31):c.1565-2A>G	Pathogenic
1120015	NM_001372053.1(ANKRD31):c.985C>T (p.Gln329Ter)	Pathogenic
3773785	NM_001372053.1(ANKRD31):c.1184_1187del (p.Val395fs)	Likely pathogenic

SpliceAI

5195 predictions. Top by Δscore:

Variant	Effect	Δscore
5:75080637:CTT:C	acceptor_gain	1.0000
5:75107618:C:CC	acceptor_gain	1.0000
5:75116684:T:C	acceptor_gain	1.0000
5:75147817:A:AC	donor_gain	1.0000
5:75168973:CAGTA:C	donor_loss	1.0000
5:75168974:AGTAC:A	donor_loss	1.0000
5:75168975:GTA:G	donor_loss	1.0000
5:75168976:TA:T	donor_loss	1.0000
5:75168977:A:AG	donor_loss	1.0000
5:75168978:C:CG	donor_loss	1.0000
5:75169120:ACC:A	acceptor_loss	1.0000
5:75169121:CCT:C	acceptor_loss	1.0000
5:75169122:C:CA	acceptor_loss	1.0000
5:75169123:T:C	acceptor_loss	1.0000
5:75188644:TTTTT:T	acceptor_gain	1.0000
5:75188645:TTTT:T	acceptor_gain	1.0000
5:75188646:TTT:T	acceptor_gain	1.0000
5:75188647:TT:T	acceptor_gain	1.0000
5:75188648:TC:T	acceptor_loss	1.0000
5:75188649:C:A	acceptor_loss	1.0000
5:75188649:C:CC	acceptor_gain	1.0000
5:75188650:T:G	acceptor_loss	1.0000
5:75188654:A:AC	acceptor_gain	1.0000
5:75210826:A:AC	donor_gain	1.0000
5:75210827:C:CC	donor_gain	1.0000
5:75222245:ACAC:A	donor_loss	1.0000
5:75222246:CA:C	donor_loss	1.0000
5:75222248:C:CG	donor_loss	1.0000
5:75222354:CATGC:C	acceptor_gain	1.0000
5:75230556:TCTCA:T	donor_loss	1.0000

AlphaMissense

12872 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:75091320:A:G	W1748R	0.994
5:75091320:A:T	W1748R	0.994
5:75104238:A:G	F1717S	0.992
5:75091316:A:G	L1749P	0.986
5:75091281:A:G	W1761R	0.984
5:75091281:A:T	W1761R	0.984
5:75104237:G:C	F1717L	0.984
5:75104237:G:T	F1717L	0.984
5:75104239:A:G	F1717L	0.984
5:75169064:A:G	L541P	0.984
5:75169096:A:C	S530R	0.983
5:75169096:A:T	S530R	0.983
5:75169098:T:G	S530R	0.983
5:75091318:C:A	W1748C	0.982
5:75091318:C:G	W1748C	0.982
5:75091386:C:G	A1726P	0.982
5:75169002:C:G	A562P	0.982
5:75104244:A:G	L1715P	0.981
5:75091269:A:G	W1765R	0.980
5:75091269:A:T	W1765R	0.980
5:75091367:C:A	G1732V	0.978
5:75188500:A:C	S519R	0.978
5:75188500:A:T	S519R	0.978
5:75188502:T:G	S519R	0.978
5:75091385:G:T	A1726D	0.975
5:75091319:C:G	W1748S	0.974
5:75169101:C:G	A529P	0.974
5:75107536:A:G	L1385P	0.973
5:75091279:C:A	W1761C	0.968
5:75091279:C:G	W1761C	0.968

dbSNP variants (sampled 300 via entrez): RS1000008976 (5:75168591 G>A), RS1000018853 (5:75138485 C>A,T), RS1000047934 (5:75203869 A>C,T), RS1000060045 (5:75169018 A>T), RS1000095116 (5:75175791 C>G,T), RS1000131908 (5:75223701 C>T), RS1000143560 (5:75119222 A>G), RS1000148651 (5:75207205 G>A), RS1000167748 (5:75236177 CTT>C,CT), RS1000175418 (5:75128477 C>G,T), RS1000206854 (5:75128715 T>G), RS1000245188 (5:75145524 G>A), RS1000257781 (5:75181931 CA>C,CAA), RS1000263435 (5:75217146 C>T), RS1000282185 (5:75076550 C>G,T)

Disease associations

OMIM: gene MIM:618423 | disease phenotypes: MIM:311360

GenCC curated gene-disease

Disease	Classification	Inheritance
inherited primary ovarian failure	Strong	Autosomal dominant

Mondo (2): long QT syndrome (MONDO:0002442), inherited primary ovarian failure (MONDO:0019852)

Orphanet (2): Rare genetic premature ovarian failure (Orphanet:485382), Rare non-acquired premature ovarian failure (Orphanet:95710)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001651_19	Response to amphetamines	6.000000e-06
GCST008129_44	Body mass index	9.000000e-32
GCST009019_6	Alzheimer’s disease	1.000000e-08
GCST010866_107	Coronary artery disease	2.000000e-08
GCST012489_51	Heel bone mineral density x serum urate levels interaction	5.000000e-08
GCST90011899_43	Aspartate aminotransferase levels	2.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ginger extract	increases abundance, affects cotreatment, affects expression	1
bisphenol A	increases expression, affects cotreatment, affects expression, increases abundance	1
sodium arsenite	increases expression	1
tri-o-cresyl phosphate	increases expression	1
benzo(e)pyrene	increases methylation	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methapyrilene	increases methylation	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1
Cyclosporine	decreases methylation	1
Aflatoxin B1	increases methylation	1
Lactic Acid	decreases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT05906732	PHASE1/PHASE2	TERMINATED	Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
NCT00005176	Not specified	COMPLETED	Long QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250	Not specified	COMPLETED	Linkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367	Not specified	COMPLETED	Epidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832	Not specified	UNKNOWN	Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032	Not specified	COMPLETED	Registry of Unexplained Cardiac Arrest
NCT00335036	Not specified	TERMINATED	Pediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412	Not specified	COMPLETED	ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254	Not specified	COMPLETED	The Long QT Syndrome in Pregnancy
NCT00588965	Not specified	COMPLETED	Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects
NCT01705925	Not specified	COMPLETED	Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome
NCT01903564	Not specified	COMPLETED	Fetal and Neonatal Magnetophysiology
NCT02082431	Not specified	COMPLETED	Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02413450	Not specified	ENROLLING_BY_INVITATION	Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02425189	Not specified	COMPLETED	The Canadian National Long QT Syndrome Registry
NCT02439645	Not specified	TERMINATED	A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439658	Not specified	UNKNOWN	Genetics of QT Prolongation With Antiarrhythmics
NCT02549664	Not specified	COMPLETED	Exercise in Genetic Cardiovascular Conditions
NCT02581241	Not specified	COMPLETED	Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome
NCT02680080	Not specified	COMPLETED	Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
NCT02775513	Not specified	UNKNOWN	Metabolism of Patients With Genetically Caused Cardiac Arrhythmia
NCT02814981	Not specified	UNKNOWN	Hydroxyzine and Risk of Prolongation of QT Interval
NCT02876380	Not specified	COMPLETED	Prospective Identification of Long QT Syndrome in Fetal Life
NCT03182777	Not specified	COMPLETED	Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies
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