MCID: DFN001
MIFTS: 6

Dfna2 Nonsyndromic Hearing Loss

Aliases & Classifications for Dfna2 Nonsyndromic Hearing Loss

MalaCards integrated aliases for Dfna2 Nonsyndromic Hearing Loss:

Name: Dfna2 Nonsyndromic Hearing Loss 25
Dfna 2 Nonsyndromic Hearing Loss 30 6

Characteristics:

GeneReviews:

25
Penetrance The penetrance is complete. all individuals with a heterozygous kcnq4 pathogenic variant exhibit the hearing loss phenotype; onset age and severity are variable...

Summaries for Dfna2 Nonsyndromic Hearing Loss

MalaCards based summary : Dfna2 Nonsyndromic Hearing Loss, is also known as dfna 2 nonsyndromic hearing loss. An important gene associated with Dfna2 Nonsyndromic Hearing Loss is KCNQ4 (Potassium Voltage-Gated Channel Subfamily Q Member 4).

GeneReviews: NBK1209

Related Diseases for Dfna2 Nonsyndromic Hearing Loss

Symptoms & Phenotypes for Dfna2 Nonsyndromic Hearing Loss

Drugs & Therapeutics for Dfna2 Nonsyndromic Hearing Loss

Search Clinical Trials , NIH Clinical Center for Dfna2 Nonsyndromic Hearing Loss

Genetic Tests for Dfna2 Nonsyndromic Hearing Loss

Genetic tests related to Dfna2 Nonsyndromic Hearing Loss:

# Genetic test Affiliating Genes
1 Dfna 2 Nonsyndromic Hearing Loss 30 KCNQ4

Anatomical Context for Dfna2 Nonsyndromic Hearing Loss

Publications for Dfna2 Nonsyndromic Hearing Loss

Articles related to Dfna2 Nonsyndromic Hearing Loss:

# Title Authors Year
1
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. ( 20966080 )
2011
2
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. ( 18030493 )
2008
3
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. ( 16596322 )
2006
4
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. ( 12112653 )
2002
5
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese. ( 11450843 )
2001
6
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. ( 10925378 )
2000
7
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. ( 10025409 )
1999
8
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. ( 10571947 )
1999
9
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. ( 8035838 )
1994

Variations for Dfna2 Nonsyndromic Hearing Loss

ClinVar genetic disease variations for Dfna2 Nonsyndromic Hearing Loss:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ4 NM_004700.4(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
2 KCNQ4 NM_004700.4(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
3 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
4 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
5 KCNQ4 NM_004700.4(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28939710 GRCh37 Chromosome 1, 41285852: 41285852
6 KCNQ4 NM_004700.4(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28939710 GRCh38 Chromosome 1, 40820180: 40820180
7 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
8 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
9 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh37 Chromosome 1, 41249976: 41249988
10 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh38 Chromosome 1, 40784304: 40784316
11 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh37 Chromosome 1, 41285554: 41285554
12 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh38 Chromosome 1, 40819882: 40819882
13 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh37 Chromosome 1, 41285131: 41285131
14 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh38 Chromosome 1, 40819459: 40819459
15 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh37 Chromosome 1, 41249976: 41249976
16 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh38 Chromosome 1, 40784304: 40784304
17 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh37 Chromosome 1, 41285598: 41285598
18 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh38 Chromosome 1, 40819926: 40819926
19 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh37 Chromosome 1, 41296966: 41296966
20 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh38 Chromosome 1, 40831294: 40831294
21 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh37 Chromosome 1, 41284190: 41284190
22 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh38 Chromosome 1, 40818518: 40818518
23 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh37 Chromosome 1, 41284292: 41284292
24 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh38 Chromosome 1, 40818620: 40818620
25 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh37 Chromosome 1, 41285088: 41285088
26 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh38 Chromosome 1, 40819416: 40819416
27 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh37 Chromosome 1, 41285095: 41285095
28 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh38 Chromosome 1, 40819423: 40819423
29 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh37 Chromosome 1, 41284366: 41284366
30 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh38 Chromosome 1, 40818694: 40818694
31 KCNQ4 NM_004700.3(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 GRCh37 Chromosome 1, 41285087: 41285087
32 KCNQ4 NM_004700.3(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 GRCh38 Chromosome 1, 40819415: 40819415
33 c.667_684del(664_681del) deletion Pathogenic
34 c.725G> A single nucleotide variant Pathogenic
35 KCNQ4 NM_004700.3(KCNQ4): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic rs137853969 GRCh38 Chromosome 1, 40819899: 40819899
36 KCNQ4 NM_004700.3(KCNQ4): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic rs137853969 GRCh37 Chromosome 1, 41285571: 41285571
37 KCNQ4 NM_004700.3(KCNQ4): c.829G> A (p.Gly277Arg) single nucleotide variant Uncertain significance rs727504459 GRCh38 Chromosome 1, 40819467: 40819467
38 KCNQ4 NM_004700.3(KCNQ4): c.829G> A (p.Gly277Arg) single nucleotide variant Uncertain significance rs727504459 GRCh37 Chromosome 1, 41285139: 41285139
39 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs1553165199 GRCh38 Chromosome 1, 40784321: 40784322
40 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs1553165199 GRCh37 Chromosome 1, 41249993: 41249994
41 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh38 Chromosome 1, 40818661: 40818661
42 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh37 Chromosome 1, 41284333: 41284333
43 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh38 Chromosome 1, 40819444: 40819446
44 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh37 Chromosome 1, 41285116: 41285118
45 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh38 Chromosome 1, 40819446: 40819446
46 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh37 Chromosome 1, 41285118: 41285118
47 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh38 Chromosome 1, 40819461: 40819461
48 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh37 Chromosome 1, 41285133: 41285133
49 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh38 Chromosome 1, 40819911: 40819911
50 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh37 Chromosome 1, 41285583: 41285583

Expression for Dfna2 Nonsyndromic Hearing Loss

Search GEO for disease gene expression data for Dfna2 Nonsyndromic Hearing Loss.

Pathways for Dfna2 Nonsyndromic Hearing Loss

GO Terms for Dfna2 Nonsyndromic Hearing Loss

Sources for Dfna2 Nonsyndromic Hearing Loss

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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