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Deafness_Isolated v1.63 GAS2 Zornitza Stark Marked gene: GAS2 as ready
Deafness_Isolated v1.63 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.63 GAS2 Zornitza Stark Classified gene: GAS2 as Amber List (moderate evidence)
Deafness_Isolated v1.63 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.62 GAS2 Zornitza Stark gene: GAS2 was added
gene: GAS2 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: GAS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2 were set to 33964205
Phenotypes for gene: GAS2 were set to Deafness, autosomal recessive 125, MIM#620877
Review for gene: GAS2 was set to AMBER
Added comment: Single family reported with four affected brothers and a splicing variant. Supportive mouse model.
Sources: Literature
Deafness_Isolated v1.61 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Deafness_Isolated v1.60 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Green List (high evidence)
Deafness_Isolated v1.60 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Green List (High Evidence).
Deafness_Isolated v1.59 GRXCR2 Zornitza Stark reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528103; Phenotypes: Deafness, autosomal recessive 101, MIM# 615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Marked gene: PKHD1L1 as ready
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Gene: pkhd1l1 has been classified as Green List (High Evidence).
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Classified gene: PKHD1L1 as Green List (high evidence)
Deafness_Isolated v1.59 PKHD1L1 Zornitza Stark Gene: pkhd1l1 has been classified as Green List (High Evidence).
Deafness_Isolated v1.58 PKHD1L1 Zornitza Stark gene: PKHD1L1 was added
gene: PKHD1L1 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1L1 were set to 38459354
Phenotypes for gene: PKHD1L1 were set to non syndromic hearing loss (MONDO:0020678)
Review for gene: PKHD1L1 was set to GREEN
Added comment: At least 4 individuals from unrelated families with sensorineural hearing loss (SNHL) (2 of the reported probands were from consanguineous parents).
The individuals are either homozygous or compound heterozygous for mutations in PKHD1L1 (missense, frameshift and nonsense mutations have been reported).

In vitro functional assessment as well as a mini-gene assay of Gly605Arg was conducted. The mini-gene assay on Gly605Arg showed that exon skipping occurs resulting in an in-frame deletion of 48 aa. Both studies didn't use a positive control however loss of function or disruption to protein stability is the speculated mechanism of disease.
Sources: Literature
Deafness_Isolated v1.57 KIAA1024L Zornitza Stark Marked gene: KIAA1024L as ready
Deafness_Isolated v1.57 KIAA1024L Zornitza Stark Gene: kiaa1024l has been classified as Green List (High Evidence).
Deafness_Isolated v1.57 KIAA1024L Zornitza Stark Classified gene: KIAA1024L as Green List (high evidence)
Deafness_Isolated v1.57 KIAA1024L Zornitza Stark Gene: kiaa1024l has been classified as Green List (High Evidence).
Deafness_Isolated v1.56 KIAA1024L Zornitza Stark gene: KIAA1024L was added
gene: KIAA1024L was added to Deafness_Isolated. Sources: Literature
new gene name tags were added to gene: KIAA1024L.
Mode of inheritance for gene: KIAA1024L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1024L were set to 35727972
Phenotypes for gene: KIAA1024L were set to Deafness, autosomal recessive 120, OMIM:620238
Review for gene: KIAA1024L was set to GREEN
Added comment: New gene name - MINAR2

PMID:35727972 reported 13 patients from four unrelated families with non-syndromic sensorineural hearing loss. Four of these patients had prelingual onset of severe to profound, progressive bilateral hearing loss. The other nine patients had congenital onset of severe to profound bilateral hearing loss, which was not progressive on one patient, while data was not available for the other.

Three different homozygous variants (c.144G > A/ p.Trp48Ter, c.412_419delCGGTTTTG/ p.Arg138Valfs*10 and c.393G > T/ p.Lys131Asn) were identified in MINAR2/ KIAA1024L gene in these patients.

There is some functional evidence available for the p.Lys131Asn variant. In addition, mice with loss of function of the Minar2 protein present with rapidly progressive sensorineural hearing loss.
Sources: Literature
Deafness_Isolated v1.55 TOGARAM2 Zornitza Stark Marked gene: TOGARAM2 as ready
Deafness_Isolated v1.55 TOGARAM2 Zornitza Stark Gene: togaram2 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.55 TOGARAM2 Zornitza Stark Classified gene: TOGARAM2 as Red List (low evidence)
Deafness_Isolated v1.55 TOGARAM2 Zornitza Stark Gene: togaram2 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.54 TOGARAM2 Naomi Baker gene: TOGARAM2 was added
gene: TOGARAM2 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: TOGARAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM2 were set to PMID:38374469
Phenotypes for gene: TOGARAM2 were set to Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related
Review for gene: TOGARAM2 was set to RED
Added comment: Paper reports one individual with bilateral profound hearing loss with a homozygous TOGARAM2 nonsense variant and demonstrated reduced mRNA expression in transfected cells.
Sources: Literature
Deafness_Isolated v1.54 STX4 Zornitza Stark Phenotypes for gene: STX4 were changed from Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related to Deafness, autosomal recessive 123, MIM# 620745
Deafness_Isolated v1.53 TMTC2 Zornitza Stark Phenotypes for gene: TMTC2 were changed from Deafness to Deafness, autosomal dominant; Deafness, autosomal recessive 122, MIM# 620714
Deafness_Isolated v1.52 TMTC2 Zornitza Stark Publications for gene: TMTC2 were set to 29671961; 27311106
Deafness_Isolated v1.51 TMTC2 Zornitza Stark Mode of inheritance for gene: TMTC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v1.50 TMTC2 Zornitza Stark edited their review of gene: TMTC2: Added comment: Single family reported with bi-allelic variants. Mouse model.; Changed publications: 29671961, 27311106, 37943620, 30188326; Changed phenotypes: Deafness, autosomal dominant, Deafness, autosomal recessive 122, MIM# 620714; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v1.50 OTOA Zornitza Stark Tag SV/CNV tag was added to gene: OTOA.
Deafness_Isolated v1.50 FOXL1 Zornitza Stark Marked gene: FOXL1 as ready
Deafness_Isolated v1.50 FOXL1 Zornitza Stark Gene: foxl1 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.50 FOXL1 Zornitza Stark Classified gene: FOXL1 as Red List (low evidence)
Deafness_Isolated v1.50 FOXL1 Zornitza Stark Gene: foxl1 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.49 FOXL1 Lilian Downie gene: FOXL1 was added
gene: FOXL1 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: FOXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXL1 were set to PMID: 34633540
Phenotypes for gene: FOXL1 were set to Otosclerosis 11 #MIM620576
Review for gene: FOXL1 was set to RED
Added comment: Single paper with variant in large AD family from Newfoundland with otosclerosis, hearing loss onset varied from late teens onwards. Segregation not completely convincing, 1 person with the deletion without otosclerosis. Conductive HL, sometimes mixed, not isolated SNHL. Second family with common haplotype and same 15bp deletion with otosclerosis. Functional studies. High population frequency and 3x homozygotes.
Sources: Literature
Deafness_Isolated v1.49 GPR156 Zornitza Stark Phenotypes for gene: GPR156 were changed from Sensorineural hearing loss, MONDO:60700002, GPR156-related to Deafness, autosomal recessive 121, MIM# 620551
Deafness_Isolated v1.48 GPR156 Zornitza Stark reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 121, MIM# 620551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v1.48 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Deafness_Isolated v1.48 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.48 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Deafness_Isolated. Sources: Expert Review
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOSR2 were set to 37074134
Phenotypes for gene: GOSR2 were set to hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related
Review for gene: GOSR2 was set to RED
Added comment: Four children from two sibships from an extended consanguineous Palestinian family were reported with congenital profound hearing loss, whereas the parents of both sibships are first cousins with normal hearing. The families reported occasional febrile seizures in infancy for each of the deaf children, but these did not persist into adolescence. These affected children were identified with autosomal recessive GOSR2 variant, c.1A > C, p.Met1Leu. This variant is present in one het in gnomad, and not in any of ~2000 in-house controls of Palestinian ancestry.

All previously reported cases with biallelic GOSR2 variants had normal hearing and hence the differences in translation efficiency due to the effect of this variant may be responsible for this hearing loss phenotype (PMID:37074134).
Sources: Expert Review
Deafness_Isolated v1.47 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Deafness_Isolated v1.47 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.47 SMARCA4 Zornitza Stark Classified gene: SMARCA4 as Amber List (moderate evidence)
Deafness_Isolated v1.47 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.46 SMARCA4 Paul De Fazio changed review comment from: A single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested.

A mouse CRISPR model with the orthologous variant had a similar phenotype.
Sources: Literature; to: A single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested - some obligate carriers were apparently unaffected, reflecting incomplete penetrance.

A mouse CRISPR model with the orthologous variant had a similar phenotype.
Sources: Literature
Deafness_Isolated v1.46 SMARCA4 Paul De Fazio gene: SMARCA4 was added
gene: SMARCA4 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCA4 were set to 37399313
Phenotypes for gene: SMARCA4 were set to Otosclerosis MONDO:0005349, SMARCA4-related
Review for gene: SMARCA4 was set to AMBER
gene: SMARCA4 was marked as current diagnostic
Added comment: A single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested.

A mouse CRISPR model with the orthologous variant had a similar phenotype.
Sources: Literature
Deafness_Isolated v1.46 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Deafness, autosomal dominant 84 MIM#619810 to Deafness, autosomal dominant 84, MIM# 619810; Auditory neuropathy, autosomal dominant 2, MIM# 620384
Deafness_Isolated v1.45 ATP11A Zornitza Stark Publications for gene: ATP11A were set to 35278131
Deafness_Isolated v1.44 ATP11A Zornitza Stark Classified gene: ATP11A as Green List (high evidence)
Deafness_Isolated v1.44 ATP11A Zornitza Stark Gene: atp11a has been classified as Green List (High Evidence).
Deafness_Isolated v1.43 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35278131; Phenotypes: Deafness, autosomal dominant 84, MIM# 619810, Auditory neuropathy, autosomal dominant 2, MIM# 620384; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v1.43 GPR156 Zornitza Stark Marked gene: GPR156 as ready
Deafness_Isolated v1.43 GPR156 Zornitza Stark Gene: gpr156 has been classified as Green List (High Evidence).
Deafness_Isolated v1.43 GPR156 Zornitza Stark Classified gene: GPR156 as Green List (high evidence)
Deafness_Isolated v1.43 GPR156 Zornitza Stark Gene: gpr156 has been classified as Green List (High Evidence).
Deafness_Isolated v1.42 GPR156 Anna Ritchie edited their review of gene: GPR156: Changed rating: GREEN
Deafness_Isolated v1.42 GPR156 Anna Ritchie gene: GPR156 was added
gene: GPR156 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: GPR156 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR156 were set to PMID: 36928819
Phenotypes for gene: GPR156 were set to Sensorineural hearing loss, MONDO:60700002, GPR156-related
Added comment: Eight affected individuals from three unrelated families all had congenital nonsyndromic bilateral sensorineural hearing loss. Homozygous and compound heterozygous loss of function variants were reported in these families.
Sources: Literature
Deafness_Isolated v1.42 STX4 Zornitza Stark Marked gene: STX4 as ready
Deafness_Isolated v1.42 STX4 Zornitza Stark Gene: stx4 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.42 STX4 Zornitza Stark Classified gene: STX4 as Amber List (moderate evidence)
Deafness_Isolated v1.42 STX4 Zornitza Stark Gene: stx4 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.41 STX4 Zornitza Stark gene: STX4 was added
gene: STX4 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: STX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX4 were set to 36355422
Phenotypes for gene: STX4 were set to Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related
Review for gene: STX4 was set to AMBER
Added comment: PMID:36355422 reported a large consanguineous Pakistani family with eight affected individuals showing bilateral severe-to-profound hearing impairment. A homozygous splice region variant was identified in STX4 (c.232 + 6T>C), which causes exon skipping and a frameshift, that segregated with hearing impairment in this family. In silico analysis showed that murine Stx4a is highly and widespread expressed in the developing and adult inner ear. Knockdown of stx4 in zebrafish showed an abnormal startle response, morphological and developmental defects, and a disrupted mechanotransduction function in neuromast hair cells.
Sources: Literature
Deafness_Isolated v1.40 USP48 Zornitza Stark Phenotypes for gene: USP48 were changed from Nonsyndromic genetic deafness, MONDO:0019497 to Deafness, autosomal dominant 85, MIM# 620227
Deafness_Isolated v1.39 USP48 Zornitza Stark edited their review of gene: USP48: Changed phenotypes: Deafness, autosomal dominant 85, MIM# 620227
Deafness_Isolated v1.39 Zornitza Stark HPO terms changed from to Hearing impairment, HP:0000365
List of related panels changed from to Hearing impairment; HP:0000365
Deafness_Isolated v1.38 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Deafness_Isolated v1.37 ATP11A Chern Lim reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36300302; Phenotypes: Deafness, autosomal dominant 84 (MIM#619810); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Deafness_Isolated v1.37 CENPP Seb Lunke Marked gene: CENPP as ready
Deafness_Isolated v1.37 CENPP Seb Lunke Gene: cenpp has been classified as Red List (Low Evidence).
Deafness_Isolated v1.37 CENPP Seb Lunke gene: CENPP was added
gene: CENPP was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: CENPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CENPP were set to 36071244
Phenotypes for gene: CENPP were set to autosomal dominant nonsyndromic hearing loss; MONDO:0019587
Review for gene: CENPP was set to RED
Added comment: Single family with dominant SNHL segregated through 5 family members. Truncating variant in NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter). Note: misannotated as nonsense variant in paper.
Sources: Literature
Deafness_Isolated v1.36 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Deafness_Isolated v1.36 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.36 TMEM43 Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence)
Deafness_Isolated v1.36 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.35 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM43 were set to 34050020
Phenotypes for gene: TMEM43 were set to Auditory neuropathy, autosomal dominant 3, MIM# 619832
Review for gene: TMEM43 was set to AMBER
Added comment: 15 individuals reported from two families with missense variants and deafness.
Sources: Literature
Deafness_Isolated v1.34 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Deafness_Isolated v1.34 TRRAP Zornitza Stark Gene: trrap has been classified as Red List (Low Evidence).
Deafness_Isolated v1.34 TRRAP Zornitza Stark Phenotypes for gene: TRRAP were changed from ?Deafness, autosomal dominant 75 MIM#618778 to Deafness, autosomal dominant 75 MIM#618778
Deafness_Isolated v1.33 TRRAP Elena Savva gene: TRRAP was added
gene: TRRAP was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRRAP were set to PMID: 31231791
Phenotypes for gene: TRRAP were set to ?Deafness, autosomal dominant 75 MIM#618778
Review for gene: TRRAP was set to RED
Added comment: PMID: 31231791: missense variant, no functional performed
- 4 members of a 3-generation Chinese family with adult-onset autosomal dominant nonsyndromic moderate to severe deafness, but 8 hets in gnomAD
- Knockdown or knockout of TRRAP resulted in significant defects in the inner ear of zebrafish
Sources: Literature
Deafness_Isolated v1.32 REST Zornitza Stark Marked gene: REST as ready
Deafness_Isolated v1.32 REST Zornitza Stark Gene: rest has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.32 REST Zornitza Stark Classified gene: REST as Amber List (moderate evidence)
Deafness_Isolated v1.32 REST Zornitza Stark Gene: rest has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.31 REST Zornitza Stark gene: REST was added
gene: REST was added to Deafness_Isolated. Sources: Expert list
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REST were set to 29961578; 34828371
Phenotypes for gene: REST were set to Deafness, autosomal dominant 27, MIM# 612431
Review for gene: REST was set to AMBER
Added comment: 2 families reported.
Sources: Expert list
Deafness_Isolated v1.30 FOXI1 Bryony Thompson Phenotypes for gene: FOXI1 were changed from Hearing loss and renal tubular acidosis to enlarged vestibular aqueduct syndrome MONDO:0023069
Deafness_Isolated v1.29 FOXI1 Bryony Thompson Classified gene: FOXI1 as Red List (low evidence)
Deafness_Isolated v1.29 FOXI1 Bryony Thompson Added comment: Comment on list classification: There is limited evidence for an association of this gene with isolated deafness. There is stronger evidence for an association with biallelic syndromic deafness (distal renal tubular acidosis with deafness), thus this gene is green on the deafness isolated and complex panel.
Deafness_Isolated v1.29 FOXI1 Bryony Thompson Gene: foxi1 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.28 FOXI1 Bryony Thompson reviewed gene: FOXI1: Rating: RED; Mode of pathogenicity: None; Publications: 17503324, 30268946, 27997596, 22285650, 23965030, 24860705, 32447495, 19204907; Phenotypes: enlarged vestibular aqueduct syndrome MONDO:0023069; Mode of inheritance: Other
Deafness_Isolated v1.28 CCDC50 Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence)
Deafness_Isolated v1.28 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.27 CCDC50 Zornitza Stark changed review comment from: PMID 24875298: Segregation in 4 individuals. However, p.Arg76His is present in 75 hets in gnomad.; to: PMID 24875298 reviewed: Segregation in 4 individuals in one family with deafness. However, p.Arg76His is present in 75 hets in gnomad.
Deafness_Isolated v1.27 CCDC50 Zornitza Stark edited their review of gene: CCDC50: Added comment: PMID 24875298: Segregation in 4 individuals. However, p.Arg76His is present in 75 hets in gnomad.; Changed rating: AMBER; Changed publications: 24875298; Changed phenotypes: Deafness, autosomal dominant 44 , MIM# 607453; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v1.27 ATP11A Zornitza Stark Marked gene: ATP11A as ready
Deafness_Isolated v1.27 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.27 ATP11A Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v1.26 ATP11A Zornitza Stark Classified gene: ATP11A as Amber List (moderate evidence)
Deafness_Isolated v1.26 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.25 ATP11A Paul De Fazio changed review comment from: Three families described with autosomal dominant non-syndromic deafness:

A Canadian family of European ancestry was described with a novel 3'UTR variant in ATP11A. RNA studies showed the retention of 153bp of intronic sequence in the 3'UTR. Variant was present in 17 affected and absent in 19 unaffected individuals.

Two Jewish Israeli families, one originating from Uzbekistan and one from Afghanistan, described with the same splice variant. RNA studies confirmed extension of the penultimate exon and a PTC (not NMD predicted). Variant segregated in 8 affected individuals, absent from 3 tested unaffected individuals.
Sources: Literature; to: Three families described with autosomal dominant non-syndromic deafness:

A Canadian family of European ancestry was described with a novel variant affecting splicing of the 3'UTR of one isoform of ATP11A. RNA studies showed the retention of 153bp of intronic sequence in the 3'UTR. Other isoforms may be variably affected. The variant is deep intronic in the two RefSeq transcripts. Variant was present in 17 affected and absent in 19 unaffected individuals.

Two Jewish Israeli families, one originating from Uzbekistan and one from Afghanistan, described with the same splice variant. RNA studies confirmed extension of the penultimate exon and a PTC (not NMD predicted). Variant segregated in 8 affected individuals, absent from 3 tested unaffected individuals.
Sources: Literature
Deafness_Isolated v1.25 ATP11A Paul De Fazio gene: ATP11A was added
gene: ATP11A was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP11A were set to 35278131
Phenotypes for gene: ATP11A were set to Deafness, autosomal dominant 84 MIM#619810
Review for gene: ATP11A was set to AMBER
gene: ATP11A was marked as current diagnostic
Added comment: Three families described with autosomal dominant non-syndromic deafness:

A Canadian family of European ancestry was described with a novel 3'UTR variant in ATP11A. RNA studies showed the retention of 153bp of intronic sequence in the 3'UTR. Variant was present in 17 affected and absent in 19 unaffected individuals.

Two Jewish Israeli families, one originating from Uzbekistan and one from Afghanistan, described with the same splice variant. RNA studies confirmed extension of the penultimate exon and a PTC (not NMD predicted). Variant segregated in 8 affected individuals, absent from 3 tested unaffected individuals.
Sources: Literature
Deafness_Isolated v1.25 RIPOR2 Zornitza Stark Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant 21, MIM# 607017
Deafness_Isolated v1.24 RIPOR2 Zornitza Stark edited their review of gene: RIPOR2: Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant 21, MIM# 607017
Deafness_Isolated v1.24 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Dominant deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; post lingual progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_Isolated v1.23 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_Isolated v1.23 MVD Zornitza Stark Marked gene: MVD as ready
Deafness_Isolated v1.23 MVD Zornitza Stark Gene: mvd has been classified as Red List (Low Evidence).
Deafness_Isolated v1.23 MVD Zornitza Stark Classified gene: MVD as Red List (low evidence)
Deafness_Isolated v1.23 MVD Zornitza Stark Gene: mvd has been classified as Red List (Low Evidence).
Deafness_Isolated v1.22 MVD Paul De Fazio edited their review of gene: MVD: Changed phenotypes: Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related
Deafness_Isolated v1.22 MVD Paul De Fazio gene: MVD was added
gene: MVD was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: MVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVD were set to 34135477
Phenotypes for gene: MVD were set to Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related
Review for gene: MVD was set to RED
gene: MVD was marked as current diagnostic
Added comment: Homozygous missense variant p.(Pro379His) identified in 2 affected siblings from a single consanguineous Pakistani family by WES. A third unaffected sibling was heterozygous for the variant. Variant is in gnomad (1 het, 0 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: Literature
Deafness_Isolated v1.22 MPDZ Alison Yeung Marked gene: MPDZ as ready
Deafness_Isolated v1.22 MPDZ Alison Yeung Gene: mpdz has been classified as Red List (Low Evidence).
Deafness_Isolated v1.22 MPDZ Alison Yeung Classified gene: MPDZ as Red List (low evidence)
Deafness_Isolated v1.22 MPDZ Alison Yeung Added comment: Comment on list classification: Single affected family, no functional studies on variant
Deafness_Isolated v1.22 MPDZ Alison Yeung Gene: mpdz has been classified as Red List (Low Evidence).
Deafness_Isolated v1.21 SEZ6 Alison Yeung Marked gene: SEZ6 as ready
Deafness_Isolated v1.21 SEZ6 Alison Yeung Gene: sez6 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.21 SEZ6 Alison Yeung Classified gene: SEZ6 as Red List (low evidence)
Deafness_Isolated v1.21 SEZ6 Alison Yeung Gene: sez6 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.20 ADAMTS1 Zornitza Stark Marked gene: ADAMTS1 as ready
Deafness_Isolated v1.20 ADAMTS1 Zornitza Stark Gene: adamts1 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.20 ADAMTS1 Zornitza Stark Classified gene: ADAMTS1 as Red List (low evidence)
Deafness_Isolated v1.20 ADAMTS1 Zornitza Stark Gene: adamts1 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.19 MPDZ Paul De Fazio gene: MPDZ was added
gene: MPDZ was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 34135477; 29026089
Phenotypes for gene: MPDZ were set to Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related
Review for gene: MPDZ was set to AMBER
gene: MPDZ was marked as current diagnostic
Added comment: Homozygous missense variant p.(Pro775Leu) identified in 2 affected siblings from a single consanguineous Pakistani family by WES. A third unaffected sibling was homozygous wild type. Variant is in gnomad (8 hets, 0 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only). A mouse model has increased threshold for auditory brainstem response.
Sources: Literature
Deafness_Isolated v1.19 SEZ6 Paul De Fazio gene: SEZ6 was added
gene: SEZ6 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: SEZ6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEZ6 were set to 34135477
Phenotypes for gene: SEZ6 were set to Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related
Review for gene: SEZ6 was set to RED
gene: SEZ6 was marked as current diagnostic
Added comment: Homozygous missense variant p.(Val698Ile) identified in 4 affected individuals from a single consanguineous Pakistani family by WES. 5 other genotyped unaffected individuals were heterozygous or homozygous wild-type. Variant is in gnomad (36 hets, 0 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: Literature
Deafness_Isolated v1.19 ADAMTS1 Paul De Fazio gene: ADAMTS1 was added
gene: ADAMTS1 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: ADAMTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS1 were set to 34135477
Phenotypes for gene: ADAMTS1 were set to Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related
Review for gene: ADAMTS1 was set to RED
gene: ADAMTS1 was marked as current diagnostic
Added comment: Homozygous missense variant p.(Ser135Ala) identified in 3 affected siblings from a single consanguineous Pakistani family by WES. A fourth unaffected sibling was homozygous wild type. Variant is in gnomad (26 hets, 1 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: Literature
Deafness_Isolated v1.19 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 26969326; 24164807
Deafness_Isolated v1.18 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Deafness_Isolated v1.18 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.17 SLC26A5 Zornitza Stark changed review comment from: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.; to: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.

This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209).

Classified as LIMITED by ClinGen in 2017.
Deafness_Isolated v1.17 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Deafness_Isolated v1.17 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Deafness_Isolated v1.17 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_Isolated v1.17 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Deafness_Isolated v1.17 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_Isolated v1.16 SPATA5L1 Zornitza Stark gene: SPATA5L1 was added
gene: SPATA5L1 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Deafness, autosomal recessive 119, MIM# 619615
Review for gene: SPATA5L1 was set to GREEN
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, compound het with another variant.
Sources: Literature
Deafness_Isolated v1.15 USP48 Zornitza Stark Marked gene: USP48 as ready
Deafness_Isolated v1.15 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_Isolated v1.15 USP48 Zornitza Stark Classified gene: USP48 as Green List (high evidence)
Deafness_Isolated v1.15 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_Isolated v1.14 USP48 Zornitza Stark gene: USP48 was added
gene: USP48 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: USP48 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP48 were set to 34059922
Phenotypes for gene: USP48 were set to Nonsyndromic genetic deafness, MONDO:0019497
Review for gene: USP48 was set to GREEN
Added comment: PMID: 34059922 - Bassani et al 2021 - 3 cases reported with variants in USP48 and non syndromic hearing loss. They first analysed 4-generation Italian family with 6 individuals with hearing loss. The only rare variant segregating with the disease was a missense variant in USP48 (NM_032234.7:c.1216G > A, NP_115612.4:p.(Gly406Arg)). The variant is present in GnomAD v2.1.1 with a minor allele frequency (MAF) of 6.7 × 10−5 (17 allele out of 251 304 with no homozygotes). They also observed one hearing individual in the family who was heterozygous for the variant, suggesting incomplete penetrance.
In a Dutch family the found by exome sequencing a missense variant in USP48 (NM_032236.7:c.2215_2216delinsTT, NP_115612.4:p.(Thr739Leu)). The probands mother and uncle were also affected by no sequence data was available for analysis.
In a French family a proband is reported with right profound sensorineural hearing impairment (at 12 months), but normal left hearing (at 6 years old). The patient is heterozygote for a de novo splice variant in USP48 (NM_032236.7:c.3058 + 2 T > C, NP_115612.4:p.?;) which is not found in GnomAD and is predicted to result in a frameshift resulting in either NMD or a truncated protein.
In functional experiments they showed that the two missense variants found in the Italian and Dutch families, and a shortened protein as predicted for the variant found in the French variant, showed an impaired ability to cleave tetra-ubiquitin into tri-, di- and mono-ubiquitin. Using immunohistology, they show that the human USP48 protein is present in fetal inner ear specimens.
In addition zebrafish lacking usp48 showed a significant decrease of auditory response in acoustic startle response assays at 600 and 800 Hz wavelengths.

Overall, borderline Green: one of the variants is present at a high frequency in the normal population. However, even if just two families are considered, supportive functional data including zebrafish model.
Sources: Literature
Deafness_Isolated v1.13 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal dominant; Deafness, autosomal recessive 88, MIM# 615429 to Deafness, autosomal dominant 81, MIM# 619500; Deafness, autosomal recessive 88, MIM# 615429
Deafness_Isolated v1.12 ELMOD3 Zornitza Stark edited their review of gene: ELMOD3: Changed phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant 81, MIM# 619500
Deafness_Isolated v1.12 CLDN9 Bryony Thompson Classified gene: CLDN9 as Green List (high evidence)
Deafness_Isolated v1.12 CLDN9 Bryony Thompson Gene: cldn9 has been classified as Green List (High Evidence).
Deafness_Isolated v1.11 CLDN9 Bryony Thompson reviewed gene: CLDN9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19696885, 31175426, 34265170; Phenotypes: Deafness, autosomal recessive 116, MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v1.11 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to 23345450; 24211385
Deafness_Isolated v1.10 P2RX2 Zornitza Stark edited their review of gene: P2RX2: Added comment: Additional evidence supporting green rating: PMID: 33791800 - Chen et al 2021 - generated and a knock-in mouse model based on the human P2RX2 p.V60L mutation (previously reported in 2 unrelated Chinese families with hearing loss) . Knock-in mice showed early-onset of hearing loss at 21-day-old, with progressively hearing loss and deafness at around 6-month-old. This is consistent with the human clinical presentation.; Changed publications: 23345450, 24211385, 33791800
Deafness_Isolated v1.10 TNC Zornitza Stark Publications for gene: TNC were set to 23936043
Deafness_Isolated v1.9 TNC Elena Savva reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23936043, 34093110, 33763067; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness_Isolated v1.9 ALMS1 Zornitza Stark Tag for review was removed from gene: ALMS1.
Deafness_Isolated v1.9 ALMS1 Zornitza Stark edited their review of gene: ALMS1: Added comment: The hearing loss is a relatively early feature, and the eye findings may not be recognised without sub specialist assessment, especially in infants/young children. Included for completeness, particularly for paediatric patients presenting early in the disease trajectory. Gene is included in GEL Hearing Loss panel for same reason.; Changed publications: 11941369, 17594715, 20301444
Deafness_Isolated v1.9 ALMS1 Bryony Thompson Tag for review tag was added to gene: ALMS1.
Deafness_Isolated v1.9 GREB1L Zornitza Stark Classified gene: GREB1L as Green List (high evidence)
Deafness_Isolated v1.9 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Deafness_Isolated v1.8 GREB1L Zornitza Stark Marked gene: GREB1L as ready
Deafness_Isolated v1.8 GREB1L Zornitza Stark Gene: greb1l has been classified as Red List (Low Evidence).
Deafness_Isolated v1.8 GREB1L Zornitza Stark gene: GREB1L was added
gene: GREB1L was added to Deafness_Isolated. Sources: Expert list
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to 29955957; 32585897
Phenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80, MIM# 619274
Review for gene: GREB1L was set to GREEN
Added comment: DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves.

Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis.
Sources: Expert list
Deafness_Isolated v1.7 CRYM Zornitza Stark Publications for gene: CRYM were set to 16740909; 24676347; 18448257; 26915689; 12471561
Deafness_Isolated v1.6 CRYM Zornitza Stark Classified gene: CRYM as Green List (high evidence)
Deafness_Isolated v1.6 CRYM Zornitza Stark Gene: crym has been classified as Green List (High Evidence).
Deafness_Isolated v1.5 CRYM Paul De Fazio reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: None; Current diagnostic: yes
Deafness_Isolated v1.5 NCOA3 Zornitza Stark Marked gene: NCOA3 as ready
Deafness_Isolated v1.5 NCOA3 Zornitza Stark Gene: ncoa3 has been classified as Red List (Low Evidence).
Deafness_Isolated v1.5 NCOA3 Zornitza Stark gene: NCOA3 was added
gene: NCOA3 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NCOA3 were set to 33326993
Phenotypes for gene: NCOA3 were set to Non-syndromic hearing loss
Review for gene: NCOA3 was set to RED
Added comment: PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity.
Sources: Literature
Deafness_Isolated v1.4 CLRN2 Zornitza Stark Phenotypes for gene: CLRN2 were changed from Non-syndromic hearing loss to Non-syndromic hearing loss; Deafness, autosomal recessive 117, MIM# 619174
Deafness_Isolated v1.3 CLRN2 Zornitza Stark reviewed gene: CLRN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 117, MIM# 619174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v1.3 CLRN2 Zornitza Stark Marked gene: CLRN2 as ready
Deafness_Isolated v1.3 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.3 CLRN2 Zornitza Stark Classified gene: CLRN2 as Amber List (moderate evidence)
Deafness_Isolated v1.3 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.2 CLRN2 Paul De Fazio gene: CLRN2 was added
gene: CLRN2 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLRN2 were set to 33496845
Phenotypes for gene: CLRN2 were set to Non-syndromic hearing loss
Review for gene: CLRN2 was set to AMBER
gene: CLRN2 was marked as current diagnostic
Added comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon.

Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function.

Rated Amber due to supporting functional studies in mice.
Sources: Literature
Deafness_Isolated v1.2 ALMS1 Bryony Thompson reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Isolated deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v1.2 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
Deafness_Isolated v1.1 PTPRQ Teresa Zhao reviewed gene: PTPRQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 33229591; Phenotypes: Deafness, autosomal dominant 73, MIM# 617663; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness_Isolated v1.1 CLDN9 Zornitza Stark Phenotypes for gene: CLDN9 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 116, MIM#619093
Deafness_Isolated v1.0 CLDN9 Zornitza Stark edited their review of gene: CLDN9: Changed phenotypes: Deafness, autosomal recessive 116, MIM#619093
Deafness_Isolated v1.0 Zornitza Stark promoted panel to version 1.0
Deafness_Isolated v0.185 WBP2 Zornitza Stark Marked gene: WBP2 as ready
Deafness_Isolated v0.185 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.185 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Deafness_Isolated v0.185 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.185 TNC Zornitza Stark Marked gene: TNC as ready
Deafness_Isolated v0.185 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.185 TMTC2 Zornitza Stark Marked gene: TMTC2 as ready
Deafness_Isolated v0.185 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.185 TMTC2 Zornitza Stark Phenotypes for gene: TMTC2 were changed from to Deafness
Deafness_Isolated v0.184 TMTC2 Zornitza Stark Publications for gene: TMTC2 were set to
Deafness_Isolated v0.183 TMTC2 Zornitza Stark Mode of inheritance for gene: TMTC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.182 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Deafness_Isolated v0.182 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 SPNS2 Zornitza Stark Marked gene: SPNS2 as ready
Deafness_Isolated v0.182 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 SPATC1L Zornitza Stark Marked gene: SPATC1L as ready
Deafness_Isolated v0.182 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 SNAI2 Zornitza Stark Marked gene: SNAI2 as ready
Deafness_Isolated v0.182 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 ROR1 Zornitza Stark Marked gene: ROR1 as ready
Deafness_Isolated v0.182 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 PPIP5K2 Zornitza Stark Marked gene: PPIP5K2 as ready
Deafness_Isolated v0.182 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Deafness_Isolated v0.182 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 KITLG Zornitza Stark Marked gene: KITLG as ready
Deafness_Isolated v0.182 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 GRXCR2 Zornitza Stark Marked gene: GRXCR2 as ready
Deafness_Isolated v0.182 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Deafness_Isolated v0.182 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 ELMOD3 Zornitza Stark Marked gene: ELMOD3 as ready
Deafness_Isolated v0.182 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_Isolated v0.182 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 DIAPH3 Zornitza Stark Tag 5'UTR tag was added to gene: DIAPH3.
Deafness_Isolated v0.182 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Deafness_Isolated v0.182 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 CRYM Zornitza Stark Marked gene: CRYM as ready
Deafness_Isolated v0.182 CRYM Zornitza Stark Gene: crym has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 CLIC5 Zornitza Stark Marked gene: CLIC5 as ready
Deafness_Isolated v0.182 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 CLIC5 Zornitza Stark Marked gene: CLIC5 as ready
Deafness_Isolated v0.182 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Deafness_Isolated v0.182 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Deafness_Isolated v0.182 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.182 WHRN Zornitza Stark Marked gene: WHRN as ready
Deafness_Isolated v0.182 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Deafness_Isolated v0.182 WHRN Zornitza Stark Phenotypes for gene: WHRN were changed from to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084
Deafness_Isolated v0.181 WHRN Zornitza Stark Publications for gene: WHRN were set to
Deafness_Isolated v0.180 WHRN Zornitza Stark Mode of inheritance for gene: WHRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.179 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Deafness_Isolated v0.179 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.179 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to Deafness, autosomal dominant 6/14/38, MIM# 600965; Wolfram syndrome 1 222300; Wolfram-like syndrome, autosomal dominant, MIM# 614296
Deafness_Isolated v0.178 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Deafness_Isolated v0.177 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.176 USH2A Zornitza Stark Marked gene: USH2A as ready
Deafness_Isolated v0.176 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Deafness_Isolated v0.176 USH2A Zornitza Stark Phenotypes for gene: USH2A were changed from to Usher syndrome, type 2A, MIM# 276901
Deafness_Isolated v0.175 USH2A Zornitza Stark Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.174 USH1G Zornitza Stark Marked gene: USH1G as ready
Deafness_Isolated v0.174 USH1G Zornitza Stark Gene: ush1g has been classified as Green List (High Evidence).
Deafness_Isolated v0.174 USH1G Zornitza Stark Phenotypes for gene: USH1G were changed from to Usher syndrome, type 1G, MIM# 606943
Deafness_Isolated v0.173 USH1G Zornitza Stark Mode of inheritance for gene: USH1G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.172 USH1C Zornitza Stark Marked gene: USH1C as ready
Deafness_Isolated v0.172 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Deafness_Isolated v0.172 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092
Deafness_Isolated v0.171 USH1C Zornitza Stark Publications for gene: USH1C were set to
Deafness_Isolated v0.170 USH1C Zornitza Stark Mode of inheritance for gene: USH1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.169 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Deafness_Isolated v0.169 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Deafness_Isolated v0.169 TRIOBP Zornitza Stark Marked gene: TRIOBP as ready
Deafness_Isolated v0.169 TRIOBP Zornitza Stark Gene: triobp has been classified as Green List (High Evidence).
Deafness_Isolated v0.169 TRIOBP Zornitza Stark Phenotypes for gene: TRIOBP were changed from to Deafness, autosomal recessive 28, MIM# 609823
Deafness_Isolated v0.168 TRIOBP Zornitza Stark Publications for gene: TRIOBP were set to
Deafness_Isolated v0.167 TRIOBP Zornitza Stark Mode of inheritance for gene: TRIOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.166 TPRN Zornitza Stark Marked gene: TPRN as ready
Deafness_Isolated v0.166 TPRN Zornitza Stark Gene: tprn has been classified as Green List (High Evidence).
Deafness_Isolated v0.166 TPRN Zornitza Stark Phenotypes for gene: TPRN were changed from to Deafness, autosomal recessive 79, MIM# 613307
Deafness_Isolated v0.165 TPRN Zornitza Stark Publications for gene: TPRN were set to
Deafness_Isolated v0.164 TPRN Zornitza Stark Mode of inheritance for gene: TPRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.163 TMPRSS3 Zornitza Stark Marked gene: TMPRSS3 as ready
Deafness_Isolated v0.163 TMPRSS3 Zornitza Stark Gene: tmprss3 has been classified as Green List (High Evidence).
Deafness_Isolated v0.163 TMIE Zornitza Stark Marked gene: TMIE as ready
Deafness_Isolated v0.163 TMIE Zornitza Stark Gene: tmie has been classified as Green List (High Evidence).
Deafness_Isolated v0.163 TMIE Zornitza Stark Phenotypes for gene: TMIE were changed from to Deafness, autosomal recessive 6, MIM# 600971
Deafness_Isolated v0.162 TMIE Zornitza Stark Publications for gene: TMIE were set to
Deafness_Isolated v0.161 TMIE Zornitza Stark Mode of inheritance for gene: TMIE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.160 TMC1 Zornitza Stark Marked gene: TMC1 as ready
Deafness_Isolated v0.160 TMC1 Zornitza Stark Gene: tmc1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.160 TMC1 Zornitza Stark Phenotypes for gene: TMC1 were changed from to Deafness, autosomal dominant 36, MIM# 606705; Deafness, autosomal recessive 7, MIM# 600974
Deafness_Isolated v0.159 TMC1 Zornitza Stark Publications for gene: TMC1 were set to
Deafness_Isolated v0.158 TMC1 Zornitza Stark Mode of inheritance for gene: TMC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.157 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Deafness_Isolated v0.157 TIMM8A Zornitza Stark Gene: timm8a has been classified as Green List (High Evidence).
Deafness_Isolated v0.157 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome, MIM# 304700
Deafness_Isolated v0.156 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Deafness_Isolated v0.155 TIMM8A Zornitza Stark Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_Isolated v0.154 TECTA Zornitza Stark Marked gene: TECTA as ready
Deafness_Isolated v0.154 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Deafness_Isolated v0.154 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Deafness_Isolated v0.153 TECTA Zornitza Stark Publications for gene: TECTA were set to
Deafness_Isolated v0.152 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.151 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Deafness_Isolated v0.151 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Deafness_Isolated v0.151 SYNE4 Zornitza Stark Marked gene: SYNE4 as ready
Deafness_Isolated v0.151 SYNE4 Zornitza Stark Gene: syne4 has been classified as Green List (High Evidence).
Deafness_Isolated v0.151 STRC Zornitza Stark Marked gene: STRC as ready
Deafness_Isolated v0.151 STRC Zornitza Stark Gene: strc has been classified as Green List (High Evidence).
Deafness_Isolated v0.151 STRC Zornitza Stark Phenotypes for gene: STRC were changed from to Deafness, autosomal recessive 16, MIM# 603720
Deafness_Isolated v0.150 STRC Zornitza Stark Publications for gene: STRC were set to
Deafness_Isolated v0.149 STRC Zornitza Stark Mode of inheritance for gene: STRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.148 STRC Zornitza Stark Tag SV/CNV tag was added to gene: STRC.
Deafness_Isolated v0.148 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Deafness_Isolated v0.148 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Deafness_Isolated v0.148 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from to PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Deafness_Isolated v0.147 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Deafness_Isolated v0.146 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.145 SMPX Zornitza Stark Marked gene: SMPX as ready
Deafness_Isolated v0.145 SMPX Zornitza Stark Gene: smpx has been classified as Green List (High Evidence).
Deafness_Isolated v0.145 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from to Deafness, X-linked 4, MIM# 300066
Deafness_Isolated v0.144 SMPX Zornitza Stark Publications for gene: SMPX were set to
Deafness_Isolated v0.143 SLITRK6 Zornitza Stark Marked gene: SLITRK6 as ready
Deafness_Isolated v0.143 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Deafness_Isolated v0.143 SLITRK6 Zornitza Stark Phenotypes for gene: SLITRK6 were changed from deafness and myopia, MIM#221200 to Deafness and myopia, MIM#221200
Deafness_Isolated v0.142 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: GREEN; Changed phenotypes: Deafness, autosomal recessive 61, MIM# 613865
Deafness_Isolated v0.142 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_Isolated v0.142 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_Isolated v0.142 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 26969326; 24164807
Deafness_Isolated v0.141 SLC26A5 Zornitza Stark Deleted their comment
Deafness_Isolated v0.141 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Deafness_Isolated v0.141 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Deafness_Isolated v0.141 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Deafness_Isolated v0.141 SIX1 Zornitza Stark Gene: six1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.141 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from Brancio-otic syndrome MIM# 608389 to Deafness, autosomal dominant 23, MIM# 605192; Brancio-otic syndrome MIM# 608389
Deafness_Isolated v0.140 SIX1 Zornitza Stark Publications for gene: SIX1 were set to
Deafness_Isolated v0.139 SIX1 Zornitza Stark Mode of inheritance for gene: SIX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.138 SERPINB6 Zornitza Stark Marked gene: SERPINB6 as ready
Deafness_Isolated v0.138 SERPINB6 Zornitza Stark Gene: serpinb6 has been classified as Green List (High Evidence).
Deafness_Isolated v0.138 S1PR2 Zornitza Stark Marked gene: S1PR2 as ready
Deafness_Isolated v0.138 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.138 RDX Zornitza Stark Marked gene: RDX as ready
Deafness_Isolated v0.138 RDX Zornitza Stark Gene: rdx has been classified as Green List (High Evidence).
Deafness_Isolated v0.138 RDX Zornitza Stark Phenotypes for gene: RDX were changed from to Deafness, autosomal recessive 24, MIM# 611022
Deafness_Isolated v0.137 RDX Zornitza Stark Publications for gene: RDX were set to
Deafness_Isolated v0.136 PTPRQ Zornitza Stark Marked gene: PTPRQ as ready
Deafness_Isolated v0.136 PTPRQ Zornitza Stark Gene: ptprq has been classified as Green List (High Evidence).
Deafness_Isolated v0.136 PTPRQ Zornitza Stark Phenotypes for gene: PTPRQ were changed from to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663
Deafness_Isolated v0.135 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to
Deafness_Isolated v0.134 PTPRQ Zornitza Stark Mode of inheritance for gene: PTPRQ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.133 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Deafness_Isolated v0.133 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.133 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from to Deafness, X-linked 1, MIM# 304500; Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070; Arts syndrome, MIM# 301835
Deafness_Isolated v0.132 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Deafness_Isolated v0.131 POU3F4 Zornitza Stark Marked gene: POU3F4 as ready
Deafness_Isolated v0.131 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Green List (High Evidence).
Deafness_Isolated v0.131 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Deafness_Isolated v0.131 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.131 PLS1 Zornitza Stark Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76, MIM# 618787
Deafness_Isolated v0.130 PDZD7 Zornitza Stark Marked gene: PDZD7 as ready
Deafness_Isolated v0.130 PDZD7 Zornitza Stark Gene: pdzd7 has been classified as Green List (High Evidence).
Deafness_Isolated v0.130 PDZD7 Zornitza Stark Phenotypes for gene: PDZD7 were changed from to Deafness, autosomal recessive 57, MIM# 618003
Deafness_Isolated v0.129 PDZD7 Zornitza Stark Publications for gene: PDZD7 were set to
Deafness_Isolated v0.128 PDZD7 Zornitza Stark Mode of inheritance for gene: PDZD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.127 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Deafness_Isolated v0.127 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Deafness_Isolated v0.127 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from to Usher syndrome, type 1F, MIM# 602083; Deafness, autosomal recessive 23, MIM# 609533
Deafness_Isolated v0.126 PCDH15 Zornitza Stark Publications for gene: PCDH15 were set to
Deafness_Isolated v0.125 PCDH15 Zornitza Stark Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.124 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Deafness_Isolated v0.124 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Deafness_Isolated v0.124 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from to Waardenburg syndrome, type 1, MIM# 193500
Deafness_Isolated v0.123 PAX3 Zornitza Stark Publications for gene: PAX3 were set to
Deafness_Isolated v0.122 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_Isolated v0.121 OTOGL Zornitza Stark Marked gene: OTOGL as ready
Deafness_Isolated v0.121 OTOGL Zornitza Stark Gene: otogl has been classified as Green List (High Evidence).
Deafness_Isolated v0.121 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from to Deafness, autosomal recessive 84B, MIM# 614944
Deafness_Isolated v0.120 OTOGL Zornitza Stark Publications for gene: OTOGL were set to
Deafness_Isolated v0.119 OTOGL Zornitza Stark Mode of inheritance for gene: OTOGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.118 OTOG Zornitza Stark Marked gene: OTOG as ready
Deafness_Isolated v0.118 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Deafness_Isolated v0.118 OTOF Zornitza Stark Marked gene: OTOF as ready
Deafness_Isolated v0.118 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Deafness_Isolated v0.118 OTOA Zornitza Stark Marked gene: OTOA as ready
Deafness_Isolated v0.118 OTOA Zornitza Stark Gene: otoa has been classified as Green List (High Evidence).
Deafness_Isolated v0.118 OTOA Zornitza Stark Phenotypes for gene: OTOA were changed from to Deafness, autosomal recessive 22, MIM# 607039
Deafness_Isolated v0.117 OTOA Zornitza Stark Publications for gene: OTOA were set to
Deafness_Isolated v0.116 OTOA Zornitza Stark Mode of inheritance for gene: OTOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.115 OSBPL2 Zornitza Stark Marked gene: OSBPL2 as ready
Deafness_Isolated v0.115 OSBPL2 Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.115 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Deafness_Isolated v0.115 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Deafness_Isolated v0.115 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, MIM# 601317; Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900
Deafness_Isolated v0.114 MYO7A Zornitza Stark Publications for gene: MYO7A were set to
Deafness_Isolated v0.113 MYO7A Zornitza Stark Mode of inheritance for gene: MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.112 MYO6 Zornitza Stark Marked gene: MYO6 as ready
Deafness_Isolated v0.112 MYO6 Zornitza Stark Gene: myo6 has been classified as Green List (High Evidence).
Deafness_Isolated v0.112 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from to Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821
Deafness_Isolated v0.111 MYO6 Zornitza Stark Publications for gene: MYO6 were set to
Deafness_Isolated v0.110 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_Isolated v0.109 MYO15A Zornitza Stark Marked gene: MYO15A as ready
Deafness_Isolated v0.109 MYO15A Zornitza Stark Gene: myo15a has been classified as Green List (High Evidence).
Deafness_Isolated v0.109 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from to Deafness, autosomal recessive 3, MIM# 600316
Deafness_Isolated v0.108 MYO15A Zornitza Stark Publications for gene: MYO15A were set to
Deafness_Isolated v0.107 MYO15A Zornitza Stark Mode of inheritance for gene: MYO15A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.106 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Deafness_Isolated v0.106 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Deafness_Isolated v0.106 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; MYH9-related disorders
Deafness_Isolated v0.105 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Deafness_Isolated v0.104 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.103 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Deafness_Isolated v0.103 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Deafness_Isolated v0.103 MSRB3 Zornitza Stark Marked gene: MSRB3 as ready
Deafness_Isolated v0.103 MSRB3 Zornitza Stark Gene: msrb3 has been classified as Green List (High Evidence).
Deafness_Isolated v0.103 MSRB3 Zornitza Stark Mode of inheritance for gene: MSRB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.102 MPZL2 Zornitza Stark Marked gene: MPZL2 as ready
Deafness_Isolated v0.102 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.102 MITF Zornitza Stark Marked gene: MITF as ready
Deafness_Isolated v0.102 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Deafness_Isolated v0.102 MITF Zornitza Stark Phenotypes for gene: MITF were changed from to Waardenburg syndrome, type 2A, MIM# 193510
Deafness_Isolated v0.101 MITF Zornitza Stark Publications for gene: MITF were set to
Deafness_Isolated v0.100 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.99 MARVELD2 Zornitza Stark Marked gene: MARVELD2 as ready
Deafness_Isolated v0.99 MARVELD2 Zornitza Stark Gene: marveld2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.99 MARVELD2 Zornitza Stark Phenotypes for gene: MARVELD2 were changed from to Deafness, autosomal recessive 49, MIM# 610153
Deafness_Isolated v0.98 MARVELD2 Zornitza Stark Publications for gene: MARVELD2 were set to
Deafness_Isolated v0.97 MARVELD2 Zornitza Stark Mode of inheritance for gene: MARVELD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.96 LRTOMT Zornitza Stark Marked gene: LRTOMT as ready
Deafness_Isolated v0.96 LRTOMT Zornitza Stark Gene: lrtomt has been classified as Green List (High Evidence).
Deafness_Isolated v0.96 LRTOMT Zornitza Stark Phenotypes for gene: LRTOMT were changed from to Deafness, autosomal recessive 63, MIM# 611451
Deafness_Isolated v0.95 LRTOMT Zornitza Stark Publications for gene: LRTOMT were set to
Deafness_Isolated v0.94 LRTOMT Zornitza Stark Mode of inheritance for gene: LRTOMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.93 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Deafness_Isolated v0.93 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.93 LMX1A Zornitza Stark Phenotypes for gene: LMX1A were changed from Deafness, autosomal recessive and autosomal dominant to Deafness, autosomal dominant 7 MIM#601412; Deafness, autosomal recessive
Deafness_Isolated v0.92 LMX1A Zornitza Stark Publications for gene: LMX1A were set to 29971487; 29754270
Deafness_Isolated v0.91 LMX1A Zornitza Stark Deleted their comment
Deafness_Isolated v0.91 LHFPL5 Zornitza Stark Marked gene: LHFPL5 as ready
Deafness_Isolated v0.91 LHFPL5 Zornitza Stark Gene: lhfpl5 has been classified as Green List (High Evidence).
Deafness_Isolated v0.91 LHFPL5 Zornitza Stark Phenotypes for gene: LHFPL5 were changed from to Deafness, autosomal recessive 67, MIM# 610265
Deafness_Isolated v0.90 LHFPL5 Zornitza Stark Publications for gene: LHFPL5 were set to
Deafness_Isolated v0.89 LHFPL5 Zornitza Stark Mode of inheritance for gene: LHFPL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.88 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Deafness_Isolated v0.88 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.88 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Deafness_Isolated v0.87 LARS2 Zornitza Stark Tag SV/CNV tag was added to gene: LARS2.
Deafness_Isolated v0.87 KIT Zornitza Stark Marked gene: KIT as ready
Deafness_Isolated v0.87 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Deafness_Isolated v0.87 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Deafness_Isolated v0.87 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.87 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Jervell and Lange-Nielsen syndrome, MIM# 220400
Deafness_Isolated v0.86 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.85 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Deafness_Isolated v0.85 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.85 KARS Zornitza Stark Marked gene: KARS as ready
Deafness_Isolated v0.85 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Deafness_Isolated v0.85 ILDR1 Zornitza Stark Marked gene: ILDR1 as ready
Deafness_Isolated v0.85 ILDR1 Zornitza Stark Gene: ildr1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.85 ILDR1 Zornitza Stark Phenotypes for gene: ILDR1 were changed from to Deafness, autosomal recessive 42, MIM# 609646
Deafness_Isolated v0.84 ILDR1 Zornitza Stark Publications for gene: ILDR1 were set to
Deafness_Isolated v0.83 ILDR1 Zornitza Stark Mode of inheritance for gene: ILDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.82 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Deafness_Isolated v0.82 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Deafness_Isolated v0.82 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from to Perrault syndrome 1, MIM# 233400
Deafness_Isolated v0.81 HSD17B4 Zornitza Stark Publications for gene: HSD17B4 were set to
Deafness_Isolated v0.80 HSD17B4 Zornitza Stark Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.79 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Deafness_Isolated v0.79 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.79 HOMER2 Zornitza Stark Mode of inheritance for gene: HOMER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.78 HGF Zornitza Stark Marked gene: HGF as ready
Deafness_Isolated v0.78 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Deafness_Isolated v0.78 HGF Zornitza Stark Mode of inheritance for gene: HGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.77 HGF Zornitza Stark Tag founder tag was added to gene: HGF.
Deafness_Isolated v0.77 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Deafness_Isolated v0.77 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.77 GRXCR1 Zornitza Stark Marked gene: GRXCR1 as ready
Deafness_Isolated v0.77 GRXCR1 Zornitza Stark Gene: grxcr1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.77 GRXCR1 Zornitza Stark Phenotypes for gene: GRXCR1 were changed from to Deafness, autosomal recessive 25, MIM# 613285
Deafness_Isolated v0.76 GRXCR1 Zornitza Stark Publications for gene: GRXCR1 were set to
Deafness_Isolated v0.75 GRXCR1 Zornitza Stark Mode of inheritance for gene: GRXCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.74 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Deafness_Isolated v0.74 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.74 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Deafness_Isolated v0.74 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.74 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome, MIM# 604213
Deafness_Isolated v0.73 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Deafness_Isolated v0.72 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Deafness_Isolated v0.72 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.72 GJB2 Zornitza Stark Mode of pathogenicity for gene: GJB2 was changed from to Other
Deafness_Isolated v0.71 GIPC3 Zornitza Stark Marked gene: GIPC3 as ready
Deafness_Isolated v0.71 GIPC3 Zornitza Stark Gene: gipc3 has been classified as Green List (High Evidence).
Deafness_Isolated v0.71 GIPC3 Zornitza Stark Phenotypes for gene: GIPC3 were changed from to Deafness, autosomal recessive 15, MIM# 601869
Deafness_Isolated v0.70 GIPC3 Zornitza Stark Publications for gene: GIPC3 were set to
Deafness_Isolated v0.69 GIPC3 Zornitza Stark Mode of inheritance for gene: GIPC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.68 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Deafness_Isolated v0.68 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Deafness_Isolated v0.68 GATA3 Zornitza Stark Phenotypes for gene: GATA3 were changed from to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Deafness_Isolated v0.67 GATA3 Zornitza Stark Publications for gene: GATA3 were set to
Deafness_Isolated v0.66 GATA3 Zornitza Stark Mode of inheritance for gene: GATA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.65 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Deafness_Isolated v0.65 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.65 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Deafness_Isolated v0.65 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.65 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from branchiio-oto-renal syndrome to Branchiootic syndrome 1, MIM# 602588
Deafness_Isolated v0.64 ESRRB Zornitza Stark Deleted their comment
Deafness_Isolated v0.64 ESPN Zornitza Stark Marked gene: ESPN as ready
Deafness_Isolated v0.64 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Deafness_Isolated v0.64 ESPN Zornitza Stark Mode of inheritance for gene: ESPN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.63 ESPN Zornitza Stark Phenotypes for gene: ESPN were changed from to Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006
Deafness_Isolated v0.62 ESPN Zornitza Stark Publications for gene: ESPN were set to
Deafness_Isolated v0.61 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Deafness_Isolated v0.61 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.61 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Deafness_Isolated v0.61 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Deafness_Isolated v0.61 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Deafness_Isolated v0.61 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Deafness_Isolated v0.61 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Deafness_Isolated v0.61 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Deafness_Isolated v0.61 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Deafness_Isolated v0.61 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.61 DMXL2 Zornitza Stark Phenotypes for gene: DMXL2 were changed from autosomal recessive EE with deafness; Autosomal dominant hearing loss to Epileptic encephalopathy, early infantile, 81, MIM#618663, with deafness; Autosomal dominant hearing loss
Deafness_Isolated v0.60 DMXL2 Zornitza Stark Publications for gene: DMXL2 were set to 31688942; 27657680; 22875945
Deafness_Isolated v0.59 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Deafness_Isolated v0.59 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.59 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1, with or without thrombocytopenia 124900
Deafness_Isolated v0.58 DIAPH1 Zornitza Stark Publications for gene: DIAPH1 were set to
Deafness_Isolated v0.57 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.56 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
Deafness_Isolated v0.56 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
Deafness_Isolated v0.56 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from to Deafness, autosomal recessive 59, MIM# 610220
Deafness_Isolated v0.55 DFNB59 Zornitza Stark Publications for gene: DFNB59 were set to
Deafness_Isolated v0.54 DFNB59 Zornitza Stark Mode of inheritance for gene: DFNB59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.53 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
Deafness_Isolated v0.53 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Green List (High Evidence).
Deafness_Isolated v0.53 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from to Deafness, autosomal dominant 5, MIM# 600994
Deafness_Isolated v0.52 DFNA5 Zornitza Stark Publications for gene: DFNA5 were set to
Deafness_Isolated v0.51 DFNA5 Zornitza Stark Mode of inheritance for gene: DFNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.50 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Deafness_Isolated v0.50 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Deafness_Isolated v0.50 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from to Stickler syndrome
Deafness_Isolated v0.49 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to
Deafness_Isolated v0.48 COL9A3 Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.47 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Deafness_Isolated v0.47 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.47 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V, MIM# 614284
Deafness_Isolated v0.46 COL9A2 Zornitza Stark Publications for gene: COL9A2 were set to
Deafness_Isolated v0.45 COL9A2 Zornitza Stark Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.44 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Deafness_Isolated v0.44 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.44 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Deafness_Isolated v0.44 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.44 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Deafness_Isolated v0.44 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.44 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Non syndromic deafness to Deafness, autosomal dominant 13, MIM# 601868; Deafness, autosomal recessive 53, MIM# 609706
Deafness_Isolated v0.43 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Deafness_Isolated v0.42 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Deafness_Isolated v0.42 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.42 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from Stickler syndrome to Stickler syndrome, type II, MIM# 604841; Marshall syndrome, MIM# 154780
Deafness_Isolated v0.41 COCH Zornitza Stark Marked gene: COCH as ready
Deafness_Isolated v0.41 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Deafness_Isolated v0.41 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Non syndromic deafness to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
Deafness_Isolated v0.40 COCH Zornitza Stark Publications for gene: COCH were set to
Deafness_Isolated v0.39 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Deafness_Isolated v0.39 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.39 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome to Usher syndrome, type 3A, MIM# 276902
Deafness_Isolated v0.38 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Deafness_Isolated v0.37 CLPP Zornitza Stark Marked gene: CLPP as ready
Deafness_Isolated v0.37 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Deafness_Isolated v0.37 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome to Perrault syndrome 3, MIM# 614129
Deafness_Isolated v0.36 CLPP Zornitza Stark Publications for gene: CLPP were set to
Deafness_Isolated v0.35 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Deafness_Isolated v0.35 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Deafness_Isolated v0.35 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035
Deafness_Isolated v0.34 CLDN14 Zornitza Stark Publications for gene: CLDN14 were set to
Deafness_Isolated v0.33 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Deafness_Isolated v0.33 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.33 CIB2 Zornitza Stark Phenotypes for gene: CIB2 were changed from Deafness, autosomal recessive 48 to Deafness, autosomal recessive 48, MIM# 609439
Deafness_Isolated v0.32 CIB2 Zornitza Stark Publications for gene: CIB2 were set to
Deafness_Isolated v0.31 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Deafness_Isolated v0.31 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Deafness_Isolated v0.31 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome, MIM# 214800
Deafness_Isolated v0.30 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Deafness_Isolated v0.30 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Deafness_Isolated v0.30 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Deafness_Isolated v0.30 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Deafness_Isolated v0.30 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Deafness_Isolated v0.30 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Deafness_Isolated v0.30 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Deafness_Isolated v0.30 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Deafness_Isolated v0.30 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 24875298; 27911912; 17503326
Deafness_Isolated v0.29 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Deafness_Isolated v0.29 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.29 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Deafness_Isolated v0.29 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Deafness_Isolated v0.29 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Bjornstad syndrome: SNHL and pili torti to Bjornstad syndrome, MIM# 262000; SNHL and pili torti
Deafness_Isolated v0.28 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Deafness_Isolated v0.27 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Deafness_Isolated v0.27 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.27 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from post lingual progressive sensorineural deafness to Dominant deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; post lingual progressive sensorineural deafness
Deafness_Isolated v0.26 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to 30535804
Deafness_Isolated v0.25 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Deafness_Isolated v0.25 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.25 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome, MIM# 203800
Deafness_Isolated v0.24 ALMS1 Zornitza Stark Publications for gene: ALMS1 were set to
Deafness_Isolated v0.23 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Deafness_Isolated v0.23 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.23 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Deafness_Isolated v0.23 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.23 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Usher syndrome to Usher syndrome, type 2C, MIM# 605472
Deafness_Isolated v0.22 ADGRV1 Zornitza Stark Publications for gene: ADGRV1 were set to
Deafness_Isolated v0.21 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Deafness_Isolated v0.21 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Deafness_Isolated v0.21 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from DFNA20 - isolated to Deafness, autosomal dominant 20/26, MIM# 604717
Deafness_Isolated v0.20 ACTG1 Zornitza Stark Publications for gene: ACTG1 were set to 29620237
Deafness_Isolated v0.18 LMX1A Bryony Thompson Marked gene: LMX1A as ready
Deafness_Isolated v0.18 LMX1A Bryony Thompson Gene: lmx1a has been classified as Green List (High Evidence).
Deafness_Isolated v0.18 LMX1A Bryony Thompson Classified gene: LMX1A as Green List (high evidence)
Deafness_Isolated v0.18 LMX1A Bryony Thompson Gene: lmx1a has been classified as Green List (High Evidence).
Deafness_Isolated v0.17 LMX1A Bryony Thompson reviewed gene: LMX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29754270, 32840933, 29971487; Phenotypes: Deafness, autosomal dominant 7 MIM#601412, non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.17 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Deafness_Isolated v0.17 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.17 RIPOR2 Zornitza Stark Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515 to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant
Deafness_Isolated v0.16 RIPOR2 Zornitza Stark Publications for gene: RIPOR2 were set to 24958875
Deafness_Isolated v0.15 RIPOR2 Zornitza Stark Mode of inheritance for gene: RIPOR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.14 RIPOR2 Zornitza Stark reviewed gene: RIPOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24958875, 32631815; Phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.14 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Deafness_Isolated v0.14 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Deafness_Isolated v0.14 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Deafness_Isolated v0.13 ESRRB Zornitza Stark Publications for gene: ESRRB were set to
Deafness_Isolated v0.12 ESRRB Zornitza Stark Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.11 ESRRB Michelle Torres reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35 MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.11 CEACAM16 Zornitza Stark Marked gene: CEACAM16 as ready
Deafness_Isolated v0.11 CEACAM16 Zornitza Stark Gene: ceacam16 has been classified as Red List (Low Evidence).
Deafness_Isolated v0.11 CEACAM16 Zornitza Stark Classified gene: CEACAM16 as Red List (low evidence)
Deafness_Isolated v0.11 CEACAM16 Zornitza Stark Gene: ceacam16 has been classified as Red List (Low Evidence).
Deafness_Isolated v0.10 P2RX2 Zornitza Stark Marked gene: P2RX2 as ready
Deafness_Isolated v0.10 P2RX2 Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.10 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to
Deafness_Isolated v0.9 P2RX2 Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345450, 24211385; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.9 P2RX2 Zornitza Stark Classified gene: P2RX2 as Green List (high evidence)
Deafness_Isolated v0.9 P2RX2 Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence).
Deafness_Isolated v0.8 NARS2 Zornitza Stark reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25807530; Phenotypes: Deafness, autosomal recessive 94, MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.8 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Deafness_Isolated v0.8 NARS2 Zornitza Stark Gene: nars2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.8 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Deafness_Isolated v0.7 NARS2 Zornitza Stark Classified gene: NARS2 as Amber List (moderate evidence)
Deafness_Isolated v0.7 NARS2 Zornitza Stark Gene: nars2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v0.6 KCNQ4 Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_Isolated v0.6 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Deafness_Isolated v0.6 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence).
Deafness_Isolated v0.6 KCNQ4 Zornitza Stark Publications for gene: KCNQ4 were set to
Deafness_Isolated v0.5 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101
Deafness_Isolated v0.4 KCNQ4 Zornitza Stark Classified gene: KCNQ4 as Green List (high evidence)
Deafness_Isolated v0.4 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence).
Deafness_Isolated v0.3 CEACAM16 Lilian Downie reviewed gene: CEACAM16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: AD and AR deafness: adult onset; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v0.3 NARS2 Lilian Downie edited their review of gene: NARS2: Added comment: Amber for isolated childhood onset; Changed rating: AMBER
Deafness_Isolated v0.3 P2RX2 Lilian Downie gene: P2RX2 was added
gene: P2RX2 was added to Deafness_Isolated. Sources: Expert list
Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: P2RX2 were set to Deafness, autosomal dominant 41, MIM#608224
Review for gene: P2RX2 was set to GREEN
Added comment: Sources: Expert list
Deafness_Isolated v0.3 NARS2 Lilian Downie gene: NARS2 was added
gene: NARS2 was added to Deafness_Isolated. Sources: Expert list
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM#618434
Review for gene: NARS2 was set to GREEN
Added comment: Sources: Expert list
Deafness_Isolated v0.3 KCNQ4 Lilian Downie gene: KCNQ4 was added
gene: KCNQ4 was added to Deafness_Isolated. Sources: Expert list
Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: KCNQ4 was set to GREEN
Added comment: Sources: Expert list
Deafness_Isolated v0.2 Zornitza Stark Panel name changed from DeafnessIsolated to Deafness_Isolated
Deafness_Isolated v0.1 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Deafness_Isolated v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WHRN was set to Unknown
Deafness_Isolated v0.0 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM# 617639
Deafness_Isolated v0.0 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to DeafnessIsolated. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Autosomal dominant deafness
Deafness_Isolated v0.0 TNC Zornitza Stark gene: TNC was added
gene: TNC was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNC were set to 23936043
Phenotypes for gene: TNC were set to Deafness, autosomal dominant 56, MIM# 615629
Deafness_Isolated v0.0 TMTC2 Zornitza Stark gene: TMTC2 was added
gene: TMTC2 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMTC2 was set to Unknown
Deafness_Isolated v0.0 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM132E were set to 25331638
Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481
Deafness_Isolated v0.0 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 30973865; 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Deafness_Isolated v0.0 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SPATC1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPATC1L were set to 30177775
Phenotypes for gene: SPATC1L were set to Deafness
Deafness_Isolated v0.0 SNAI2 Zornitza Stark gene: SNAI2 was added
gene: SNAI2 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAI2 were set to 30936914; 12444107
Phenotypes for gene: SNAI2 were set to Waardenburg syndrome, type 2D, MIM# 608890
Deafness_Isolated v0.0 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Deafness_Isolated v0.0 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPOR2 were set to 24958875
Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515
Deafness_Isolated v0.0 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Deafness_Isolated v0.0 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR96 were set to 19363479; 29325119
Phenotypes for gene: MIR96 were set to Deafness, autosomal dominant 50, MIM# 613074
Deafness_Isolated v0.0 LMX1A Zornitza Stark gene: LMX1A was added
gene: LMX1A was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LMX1A were set to 29971487; 29754270
Phenotypes for gene: LMX1A were set to Deafness, autosomal recessive and autosomal dominant
Deafness_Isolated v0.0 KITLG Zornitza Stark gene: KITLG was added
gene: KITLG was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KITLG were set to 26522471
Phenotypes for gene: KITLG were set to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
Deafness_Isolated v0.0 GRXCR2 Zornitza Stark gene: GRXCR2 was added
gene: GRXCR2 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRXCR2 were set to 24619944
Phenotypes for gene: GRXCR2 were set to Deafness, autosomal recessive 101, MIM# 615837
Deafness_Isolated v0.0 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESRP1 were set to 29107558
Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013
Deafness_Isolated v0.0 ELMOD3 Zornitza Stark gene: ELMOD3 was added
gene: ELMOD3 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ELMOD3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ELMOD3 were set to 31628468; 30284680; 24039609; 29713870
Phenotypes for gene: ELMOD3 were set to Deafness, autosomal dominant; Deafness, autosomal recessive 88, MIM# 615429
Deafness_Isolated v0.0 DIAPH3 Zornitza Stark gene: DIAPH3 was added
gene: DIAPH3 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DIAPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIAPH3 were set to 20624953; 23441200; 27658576
Phenotypes for gene: DIAPH3 were set to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_Isolated v0.0 DIABLO Zornitza Stark gene: DIABLO was added
gene: DIABLO was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIABLO were set to 10929711; 21722859; 26969326
Phenotypes for gene: DIABLO were set to Deafness, autosomal dominant 64, MIM# 614152
Deafness_Isolated v0.0 CRYM Zornitza Stark gene: CRYM was added
gene: CRYM was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYM were set to 16740909; 24676347; 18448257; 26915689; 12471561
Phenotypes for gene: CRYM were set to Deafness, autosomal dominant 40, MIM# 616357
Deafness_Isolated v0.0 CLIC5 Zornitza Stark gene: CLIC5 was added
gene: CLIC5 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLIC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLIC5 were set to 24781754; 17021174
Phenotypes for gene: CLIC5 were set to Deafness, autosomal recessive 103, MIM# 616042
Deafness_Isolated v0.0 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to DeafnessIsolated. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive
Deafness_Isolated v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1D were set to 21131953; 15357422; 22678062
Phenotypes for gene: CACNA1D were set to Sinoatrial node dysfunction and deafness, MIM# 614896
Deafness_Isolated v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WFS1 was set to Unknown
Deafness_Isolated v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USH2A was set to Unknown
Deafness_Isolated v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USH1G was set to Unknown
Deafness_Isolated v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USH1C was set to Unknown
Deafness_Isolated v0.0 TUBB4B Zornitza Stark gene: TUBB4B was added
gene: TUBB4B was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to 29198720
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness
Deafness_Isolated v0.0 TRIOBP Zornitza Stark gene: TRIOBP was added
gene: TRIOBP was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIOBP was set to Unknown
Deafness_Isolated v0.0 TPRN Zornitza Stark gene: TPRN was added
gene: TPRN was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPRN was set to Unknown
Deafness_Isolated v0.0 TMPRSS3 Zornitza Stark gene: TMPRSS3 was added
gene: TMPRSS3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS3 were set to 21786053; 17551081
Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive 8/10, MIM#601072
Deafness_Isolated v0.0 TMIE Zornitza Stark gene: TMIE was added
gene: TMIE was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMIE was set to Unknown
Deafness_Isolated v0.0 TMC1 Zornitza Stark gene: TMC1 was added
gene: TMC1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMC1 was set to Unknown
Deafness_Isolated v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM8A was set to Unknown
Deafness_Isolated v0.0 TECTA Zornitza Stark gene: TECTA was added
gene: TECTA was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TECTA was set to Unknown
Deafness_Isolated v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TBC1D24 were set to 24387994; 24729539; 24729547; 24291220
Phenotypes for gene: TBC1D24 were set to Deafness, autosomal dominant 65, MIM#616044; DOORS syndrome, MIM#220500; Deafness , autosomal recessive 86, MIM#614617
Deafness_Isolated v0.0 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNE4 were set to 28958982; 23348741
Phenotypes for gene: SYNE4 were set to Deafness, autosomal recessive 76, MIM# 615540
Deafness_Isolated v0.0 STRC Zornitza Stark gene: STRC was added
gene: STRC was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STRC was set to Unknown
Deafness_Isolated v0.0 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX10 was set to Unknown
Deafness_Isolated v0.0 SMPX Zornitza Stark gene: SMPX was added
gene: SMPX was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_Isolated v0.0 SLITRK6 Zornitza Stark gene: SLITRK6 was added
gene: SLITRK6 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLITRK6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLITRK6 were set to 29551497; 23543054
Phenotypes for gene: SLITRK6 were set to deafness and myopia, MIM#221200
Deafness_Isolated v0.0 SLC26A5 Zornitza Stark gene: SLC26A5 was added
gene: SLC26A5 was added to DeafnessIsolated. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SLC26A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A5 were set to 26969326; 24164807
Phenotypes for gene: SLC26A5 were set to Deafness, autosomal recessive 61, MIM# 613865
Deafness_Isolated v0.0 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A4 were set to 19204907; 9618167
Phenotypes for gene: SLC26A4 were set to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791; Pendred syndrome, MIM#274600
Deafness_Isolated v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX1 was set to Unknown
Phenotypes for gene: SIX1 were set to Brancio-otic syndrome MIM# 608389
Deafness_Isolated v0.0 SERPINB6 Zornitza Stark gene: SERPINB6 was added
gene: SERPINB6 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB6 were set to 25719458; 23669344; 20451170
Phenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive 91, MIM# 613453
Deafness_Isolated v0.0 S1PR2 Zornitza Stark gene: S1PR2 was added
gene: S1PR2 was added to DeafnessIsolated. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S1PR2 were set to 29776397; 27383011; 26805784
Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419
Deafness_Isolated v0.0 RDX Zornitza Stark gene: RDX was added
gene: RDX was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.0 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPRQ was set to Unknown
Deafness_Isolated v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_Isolated v0.0 POU3F4 Zornitza Stark gene: POU3F4 was added
gene: POU3F4 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POU3F4 were set to 31786483; 30176854
Phenotypes for gene: POU3F4 were set to Deafness, X-linked 2, MIM# 304400
Deafness_Isolated v0.0 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to DeafnessIsolated. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Deafness_Isolated v0.0 PDZD7 Zornitza Stark gene: PDZD7 was added
gene: PDZD7 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDZD7 was set to Unknown
Deafness_Isolated v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCDH15 was set to Unknown
Deafness_Isolated v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX3 was set to Unknown
Deafness_Isolated v0.0 OTOGL Zornitza Stark gene: OTOGL was added
gene: OTOGL was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTOGL was set to Unknown
Deafness_Isolated v0.0 OTOG Zornitza Stark gene: OTOG was added
gene: OTOG was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTOG were set to 23122587; 29800624
Phenotypes for gene: OTOG were set to Deafness, autosomal recessive 18B, MIM#614945
Deafness_Isolated v0.0 OTOF Zornitza Stark gene: OTOF was added
gene: OTOF was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTOF were set to 22906306; 16371502
Phenotypes for gene: OTOF were set to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071
Deafness_Isolated v0.0 OTOA Zornitza Stark gene: OTOA was added
gene: OTOA was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTOA was set to Unknown
Deafness_Isolated v0.0 OSBPL2 Zornitza Stark gene: OSBPL2 was added
gene: OSBPL2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OSBPL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OSBPL2 were set to 30894143; 31451425; 25759012; 25077649
Phenotypes for gene: OSBPL2 were set to Deafness, autosomal dominant 67, MIM# 616340
Deafness_Isolated v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYO7A was set to Unknown
Deafness_Isolated v0.0 MYO6 Zornitza Stark gene: MYO6 was added
gene: MYO6 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYO6 was set to Unknown
Deafness_Isolated v0.0 MYO15A Zornitza Stark gene: MYO15A was added
gene: MYO15A was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYO15A was set to Unknown
Deafness_Isolated v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH9 was set to Unknown
Deafness_Isolated v0.0 MYH14 Zornitza Stark gene: MYH14 was added
gene: MYH14 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to Deafness, autosomal dominant 4A, MIM# 600652
Deafness_Isolated v0.0 MSRB3 Zornitza Stark gene: MSRB3 was added
gene: MSRB3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSRB3 was set to Unknown
Publications for gene: MSRB3 were set to 21185009; 24191262; 19650862
Phenotypes for gene: MSRB3 were set to Deafness, autosomal recessive 74, MIM# 613718
Deafness_Isolated v0.0 MPZL2 Zornitza Stark gene: MPZL2 was added
gene: MPZL2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPZL2 were set to 29982980; 29961571
Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145
Deafness_Isolated v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MITF was set to Unknown
Deafness_Isolated v0.0 MARVELD2 Zornitza Stark gene: MARVELD2 was added
gene: MARVELD2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MARVELD2 was set to Unknown
Deafness_Isolated v0.0 LRTOMT Zornitza Stark gene: LRTOMT was added
gene: LRTOMT was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRTOMT was set to Unknown
Deafness_Isolated v0.0 LOXHD1 Zornitza Stark gene: LOXHD1 was added
gene: LOXHD1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXHD1 were set to 19732867; 25792669
Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive 77, MIM# 613079
Deafness_Isolated v0.0 LHFPL5 Zornitza Stark gene: LHFPL5 was added
gene: LHFPL5 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LHFPL5 was set to Unknown
Deafness_Isolated v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4, MIM#615300
Deafness_Isolated v0.0 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to DeafnessIsolated. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Piebaldism, MIM# 172800
Deafness_Isolated v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNQ1 was set to Unknown
Deafness_Isolated v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Deafness_Isolated v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 14975237; 23768514
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, MIM# 613916
Deafness_Isolated v0.0 ILDR1 Zornitza Stark gene: ILDR1 was added
gene: ILDR1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ILDR1 was set to Unknown
Deafness_Isolated v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD17B4 was set to Unknown
Deafness_Isolated v0.0 HOMER2 Zornitza Stark gene: HOMER2 was added
gene: HOMER2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOMER2 was set to Unknown
Publications for gene: HOMER2 were set to 25816005; 30047143
Phenotypes for gene: HOMER2 were set to Deafness, autosomal dominant 68, MIM# 616707
Deafness_Isolated v0.0 HGF Zornitza Stark gene: HGF was added
gene: HGF was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HGF was set to Unknown
Publications for gene: HGF were set to 19576567; 27488639
Phenotypes for gene: HGF were set to Deafness, autosomal recessive 39, MIM# 608265
Deafness_Isolated v0.0 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HARS2 were set to 21464306; 27650058; 31486067; 31827252
Phenotypes for gene: HARS2 were set to Perrault syndrome 2, MIM# 614926
Deafness_Isolated v0.0 GRXCR1 Zornitza Stark gene: GRXCR1 was added
gene: GRXCR1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRXCR1 was set to
Deafness_Isolated v0.0 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRHL2 were set to Deafness, autosomal dominant 28, MIM# 608641
Deafness_Isolated v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome
Deafness_Isolated v0.0 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJB2 were set to 9529365; 14985372; 11354642; 19941053
Phenotypes for gene: GJB2 were set to Keratitis-ichthyosis-deafness syndrome, MIM#148210; Deafness, autosomal dominant 3A, MIM#601544; Bart-Pumphrey syndrome, MIM#149200; Vohwinkel syndrome, MIM# 124500; Deafness, autosomal recessive 1A, MIM#220290; Keratoderma, palmoplantar, with deafness, MIM#148350; Hystrix-like ichthyosis with deafness, MIM#602540
Deafness_Isolated v0.0 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GIPC3 was set to Unknown
Deafness_Isolated v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA3 was set to Unknown
Deafness_Isolated v0.0 FOXI1 Zornitza Stark gene: FOXI1 was added
gene: FOXI1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXI1 were set to 9843211; 29242249; 17503324
Phenotypes for gene: FOXI1 were set to Hearing loss and renal tubular acidosis
Deafness_Isolated v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to branchiio-oto-renal syndrome
Deafness_Isolated v0.0 ESRRB Zornitza Stark gene: ESRRB was added
gene: ESRRB was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ESRRB was set to Unknown
Deafness_Isolated v0.0 ESPN Zornitza Stark gene: ESPN was added
gene: ESPN was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.0 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to DeafnessIsolated. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 23918390; 28281779; 26282398
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Deafness_Isolated v0.0 EPS8 Zornitza Stark gene: EPS8 was added
gene: EPS8 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8 were set to 24741995
Phenotypes for gene: EPS8 were set to Deafness, autosomal recessive 102, MIM# 615974
Deafness_Isolated v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome, type 4A, MIM# 277580
Deafness_Isolated v0.0 EDN3 Zornitza Stark gene: EDN3 was added
gene: EDN3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to 8630502; 19764030; 11303518
Phenotypes for gene: EDN3 were set to Waardenburg syndrome, type 4B, MIM# 613265
Deafness_Isolated v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to DeafnessIsolated. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 27657680; 22875945
Phenotypes for gene: DMXL2 were set to autosomal recessive EE with deafness; Autosomal dominant hearing loss
Deafness_Isolated v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DIAPH1 was set to Unknown
Deafness_Isolated v0.0 DFNB59 Zornitza Stark gene: DFNB59 was added
gene: DFNB59 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DFNB59 was set to Unknown
Deafness_Isolated v0.0 DFNA5 Zornitza Stark gene: DFNA5 was added
gene: DFNA5 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DFNA5 was set to Unknown
Deafness_Isolated v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A3 was set to Unknown
Deafness_Isolated v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A2 was set to Unknown
Deafness_Isolated v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134
Deafness_Isolated v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL2A1 were set to 27408751
Phenotypes for gene: COL2A1 were set to Stickler syndrome, type I, MIM108300
Deafness_Isolated v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Non syndromic deafness
Deafness_Isolated v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A1 were set to Stickler syndrome
Deafness_Isolated v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COCH were set to Non syndromic deafness
Deafness_Isolated v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome
Deafness_Isolated v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome
Deafness_Isolated v0.0 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48
Deafness_Isolated v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome
Deafness_Isolated v0.0 CEP78 Zornitza Stark gene: CEP78 was added
gene: CEP78 was added to DeafnessIsolated. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP78 were set to 27588452; 28005958; 27588451; 27627988
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, MIM#617236
Deafness_Isolated v0.0 CEACAM16 Zornitza Stark gene: CEACAM16 was added
gene: CEACAM16 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEACAM16 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CEACAM16 were set to 25589040; 21368133; 22544735; 31249509; 29703829; 30514912
Phenotypes for gene: CEACAM16 were set to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Deafness_Isolated v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH23 were set to 25468891; 11138009; 21940737
Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067); Usher syndrome, type 1D (MIM# 601067)
Deafness_Isolated v0.0 CDC14A Zornitza Stark gene: CDC14A was added
gene: CDC14A was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC14A were set to 29293958; 27259055
Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Deafness_Isolated v0.0 CCDC50 Zornitza Stark gene: CCDC50 was added
gene: CCDC50 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC50 were set to 24875298; 27911912; 17503326
Phenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44, MIM# 607453; Childhood onset deafness, progressive
Deafness_Isolated v0.0 CABP2 Zornitza Stark gene: CABP2 was added
gene: CABP2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CABP2 were set to 22981119; 28183797; 31661684
Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899
Deafness_Isolated v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Bjornstad syndrome: SNHL and pili torti
Deafness_Isolated v0.0 ATP2B2 Zornitza Stark gene: ATP2B2 was added
gene: ATP2B2 was added to DeafnessIsolated. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to 30535804
Phenotypes for gene: ATP2B2 were set to post lingual progressive sensorineural deafness
Deafness_Isolated v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Deafness_Isolated v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 25986071
Phenotypes for gene: AIFM1 were set to Deafness, X-linked 5, MIM# 300614
Deafness_Isolated v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome
Deafness_Isolated v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTG1 were set to 29620237
Phenotypes for gene: ACTG1 were set to DFNA20 - isolated
Deafness_Isolated v0.0 Zornitza Stark Added panel DeafnessIsolated