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Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.209 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Deafness_IsolatedAndComplex v1.208 FMN1 Bryony Thompson changed review comment from: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)

PMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome.
Sources: Literature; to: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 510 CHI cases assessed and 54,738 controls in BeviMed analysis. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)

PMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome.
Sources: Literature
Deafness_IsolatedAndComplex v1.208 FMN1 Bryony Thompson Marked gene: FMN1 as ready
Deafness_IsolatedAndComplex v1.208 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.208 FMN1 Bryony Thompson Classified gene: FMN1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.208 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.207 FMN1 Bryony Thompson gene: FMN1 was added
gene: FMN1 was added to Deafness_IsolatedAndComplex. Sources: Literature
SV/CNV tags were added to gene: FMN1.
Mode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMN1 were set to 20610440; 19383632; 15202026; 36928819
Phenotypes for gene: FMN1 were set to Hearing loss disorder MONDO:0005365
Review for gene: FMN1 was set to AMBER
Added comment: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)

PMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome.
Sources: Literature
Deafness_IsolatedAndComplex v1.206 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to Congenital disorder of glycosylation, type 1DD, MIM# 301133
Deafness_IsolatedAndComplex v1.205 DHRSX Zornitza Stark edited their review of gene: DHRSX: Changed phenotypes: Congenital disorder of glycosylation, type 1DD, MIM# 301133
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.204 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Classified gene: SLC33A1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.202 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC33A1 were set to 31194315
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Review for gene: SLC33A1 was set to GREEN
Added comment: Multiple families reported. Deafness is part of the phenotype.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.200 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Gene in PAR.
Sources: Literature
Deafness_IsolatedAndComplex v1.199 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to RENI syndrome (MIM#617575)
Deafness_IsolatedAndComplex v1.198 RFC4 Chirag Patel Classified gene: RFC4 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.198 RFC4 Chirag Patel Gene: rfc4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.198 RFC4 Chirag Patel Classified gene: RFC4 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.198 RFC4 Chirag Patel Gene: rfc4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.197 RFC4 Chirag Patel gene: RFC4 was added
gene: RFC4 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC4 were set to PMID: 39106866
Phenotypes for gene: RFC4 were set to RFC4-related multisystem disorder
Review for gene: RFC4 was set to GREEN
gene: RFC4 was marked as current diagnostic
Added comment: 9 affected individuals (aged birth to 47yrs) from 8 unrelated families with a multisystem disorder. Clinical features included: muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9).

WES or WGS identified biallelic loss-of-function variants in RFC4 (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions, 2 missense), and almost all are likely to disrupt the C-terminal domain indispensable for Replication factor C (RFC) complex formation. All variants segregated with the disease.

The RFC complex (with 5 subunits) is central to process of regulation of DNA replication, and it loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. RFC1 is associated with CANVAS but the contributions of RFC2-5 subunits on human Mendelian disorders is unknown.

Analysis of a previously determined cryo-EM structure of RFC bound to proliferating cell nuclear antigen suggested that the variants disrupt interactions within RFC4 and/or destabilize the RFC complex. Cellular studies using RFC4-deficient HeLa cells and primary fibroblasts demonstrated decreased RFC4 protein, compromised stability of the other RFC complex subunits, and perturbed RFC complex formation. Additionally, functional studies of the RFC4 variants affirmed diminished RFC complex formation, and cell cycle studies suggested perturbation of DNA replication and cell cycle progression.
Sources: Literature
Deafness_IsolatedAndComplex v1.196 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Red List (low evidence)
Deafness_IsolatedAndComplex v1.196 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.195 ELMOD3 Zornitza Stark edited their review of gene: ELMOD3: Added comment: Discussed at GenCC: LIMITED.; Changed rating: RED
Deafness_IsolatedAndComplex v1.195 ZSCAN10 Zornitza Stark Phenotypes for gene: ZSCAN10 were changed from Syndromic disease MONDO:0002254 to Otofacial neurodevelopmental syndrome, MIM# 620910
Deafness_IsolatedAndComplex v1.194 ZSCAN10 Zornitza Stark reviewed gene: ZSCAN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Otofacial neurodevelopmental syndrome, MIM# 620910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.194 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Deafness_IsolatedAndComplex v1.194 SPATA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is AFG2A
Deafness_IsolatedAndComplex v1.194 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.194 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Classified gene: RAF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Gene: raf1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.195 MAP2K1 Chirag Patel Classified gene: MAP2K1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.195 MAP2K1 Chirag Patel Gene: map2k1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.194 BRAF Chirag Patel Classified gene: BRAF as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 BRAF Chirag Patel Gene: braf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Classified gene: RAF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Gene: raf1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Classified gene: RAF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Gene: raf1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.193 PTPN11 Chirag Patel Classified gene: PTPN11 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.193 PTPN11 Chirag Patel Gene: ptpn11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.193 MAP2K1 Chirag Patel gene: MAP2K1 was added
gene: MAP2K1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to PMID: 20301557
Phenotypes for gene: MAP2K1 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 615279
Review for gene: MAP2K1 was set to GREEN
gene: MAP2K1 was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Deafness_IsolatedAndComplex v1.192 RAF1 Chirag Patel gene: RAF1 was added
gene: RAF1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to PMID: 20301557
Phenotypes for gene: RAF1 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 611554
Review for gene: RAF1 was set to GREEN
gene: RAF1 was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Deafness_IsolatedAndComplex v1.191 PTPN11 Chirag Patel gene: PTPN11 was added
gene: PTPN11 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to PMID: 20301557, 32737134
Phenotypes for gene: PTPN11 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 151100
Review for gene: PTPN11 was set to GREEN
gene: PTPN11 was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Deafness_IsolatedAndComplex v1.191 BRAF Chirag Patel gene: BRAF was added
gene: BRAF was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to PMID: 20301557
Phenotypes for gene: BRAF were set to Noonan Syndrome with Multiple Lentigines, OMIM # 613707
Review for gene: BRAF was set to GREEN
gene: BRAF was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Marked gene: GAS2 as ready
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Classified gene: GAS2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.189 GAS2 Zornitza Stark gene: GAS2 was added
gene: GAS2 was added to Deafness_IsolatedAndComplex. 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_IsolatedAndComplex v1.188 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Deafness_IsolatedAndComplex v1.187 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.187 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.186 GRXCR2 Achchuthan Shanmugasundram reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528103; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.186 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Deafness_IsolatedAndComplex v1.185 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Marked gene: LMNA as ready
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Classified gene: LMNA as Green List (high evidence)
Deafness_IsolatedAndComplex v1.184 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.183 LMNA Rylee Peters gene: LMNA was added
gene: LMNA was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to PMID: 32913962
Phenotypes for gene: LMNA were set to Laminopathy (MONDO#0021106), LMNA-related
Review for gene: LMNA was set to GREEN
Added comment: PMID: 32913962; Total of 13 individuals heterozygous for the R349W variant. Recurrent phenotypes in these individuals include partial lipodystrophy, proteinuric nephropathy, cardiopathies and sensorineural hearing impairment.
Hearing impairment was identified in 66% of the patients (6/9 individuals, 4 were not reported) and ranged from reduction or complete sensorineural deafness.
Sources: Literature
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark changed review comment from: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.
Sources: Literature; to: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.

HGNC approved name is NAA80.

Sources: Literature
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark Marked gene: NAT6 as ready
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark Gene: nat6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.183 NAT6 Zornitza Stark gene: NAT6 was added
gene: NAT6 was added to Deafness_IsolatedAndComplex. Sources: Literature
new gene name tags were added to gene: NAT6.
Mode of inheritance for gene: NAT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT6 were set to 34805998
Phenotypes for gene: NAT6 were set to Auroneurodental syndrome, MIM# 620830
Review for gene: NAT6 was set to RED
Added comment: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.
Sources: Literature
Deafness_IsolatedAndComplex v1.182 KARS Zornitza Stark Tag new gene name tag was added to gene: KARS.
Deafness_IsolatedAndComplex v1.182 TCOF1 Zornitza Stark Classified gene: TCOF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.182 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.181 TCOF1 Zornitza Stark Classified gene: TCOF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.181 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.180 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Deafness_IsolatedAndComplex v1.180 TCOF1 Zornitza Stark Gene: tcof1 has been removed from the panel.
Deafness_IsolatedAndComplex v1.180 TJP2 Sangavi Sivagnanasundram reviewed gene: TJP2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006375; Phenotypes: nonsyndromic genetic hearing loss MONDO:0019497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.180 TCOF1 Sangavi Sivagnanasundram gene: TCOF1 was added
gene: TCOF1 was added to Deafness_IsolatedAndComplex. Sources: Other
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCOF1 were set to https://search.clinicalgenome.org/CCID:006342
Phenotypes for gene: TCOF1 were set to Treacher-Collins syndrome (MONDO:0002457)
Review for gene: TCOF1 was set to GREEN
Added comment: Classified DEFINITIVE by ClinGen Hearing Loss on 17/09/2019 - https://search.clinicalgenome.org/CCID:006342

The mechanism of disease is haploinsufficiency.
Sources: Other
Deafness_IsolatedAndComplex v1.180 KARS Sangavi Sivagnanasundram commented on gene: KARS
Deafness_IsolatedAndComplex v1.180 KIAA1024L Zornitza Stark Marked gene: KIAA1024L as ready
Deafness_IsolatedAndComplex v1.180 KIAA1024L Zornitza Stark Gene: kiaa1024l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.180 KIAA1024L Zornitza Stark Classified gene: KIAA1024L as Green List (high evidence)
Deafness_IsolatedAndComplex v1.180 KIAA1024L Zornitza Stark Gene: kiaa1024l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.179 KIAA1024L Zornitza Stark gene: KIAA1024L was added
gene: KIAA1024L was added to Deafness_IsolatedAndComplex. 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_IsolatedAndComplex v1.178 PLXNB2 Zornitza Stark Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related to Syndromic disease MONDO:0002254, PLXNB2 -related
Deafness_IsolatedAndComplex v1.177 PLXNB2 Zornitza Stark Marked gene: PLXNB2 as ready
Deafness_IsolatedAndComplex v1.177 PLXNB2 Zornitza Stark Gene: plxnb2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.177 MAP3K20 Zornitza Stark Marked gene: MAP3K20 as ready
Deafness_IsolatedAndComplex v1.177 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.177 MAP3K20 Zornitza Stark Classified gene: MAP3K20 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.177 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.176 MAP3K20 Zornitza Stark gene: MAP3K20 was added
gene: MAP3K20 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MAP3K20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K20 were set to 38451290
Phenotypes for gene: MAP3K20 were set to Syndromic disease, MONDO:0002254, MAP3K20-related
Review for gene: MAP3K20 was set to GREEN
Added comment: PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20.
Sources: Literature
Deafness_IsolatedAndComplex v1.175 PLXNB2 Chirag Patel Classified gene: PLXNB2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.175 PLXNB2 Chirag Patel Gene: plxnb2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.174 PLXNB2 Chirag Patel gene: PLXNB2 was added
gene: PLXNB2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXNB2 were set to PMID: 38458752
Phenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related
Review for gene: PLXNB2 was set to GREEN
gene: PLXNB2 was marked as current diagnostic
Added comment: 8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease.

PLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice.
Sources: Literature
Deafness_IsolatedAndComplex v1.173 ZSCAN10 Zornitza Stark Marked gene: ZSCAN10 as ready
Deafness_IsolatedAndComplex v1.173 ZSCAN10 Zornitza Stark Gene: zscan10 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.173 ZSCAN10 Zornitza Stark Classified gene: ZSCAN10 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.173 ZSCAN10 Zornitza Stark Gene: zscan10 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.172 ZSCAN10 Rylee Peters gene: ZSCAN10 was added
gene: ZSCAN10 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZSCAN10 were set to PMID: 38386308
Phenotypes for gene: ZSCAN10 were set to Syndromic disease MONDO:0002254
Review for gene: ZSCAN10 was set to GREEN
Added comment: Bi-allelic ZSCAN10 loss-of-function variants were identified in seven affected individuals from five unrelated families with syndromic neurodevelopmental disorder.

Highly consistent phenotypic features include global developmental delay, behavioural abnormalities, and variable facial asymmetry with outer and inner ear malformations leading to profound SNHL.

Facial asymmetry was recapitulated in the Zscan10 mouse model along with inner and outer ear malformations.
Sources: Literature
Deafness_IsolatedAndComplex v1.172 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101; dominant deafness to Deafness, autosomal recessive 30, MIM# 607101; Deafness, autosomal dominant 90, MIM# 620722
Deafness_IsolatedAndComplex v1.171 MYO3A Zornitza Stark edited their review of gene: MYO3A: Changed phenotypes: Deafness, autosomal recessive 30, MIM# 607101, Deafness, autosomal dominant 90, MIM# 620722
Deafness_IsolatedAndComplex v1.171 TMTC2 Zornitza Stark Phenotypes for gene: TMTC2 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant; Deafness, autosomal recessive 122, MIM# 620714
Deafness_IsolatedAndComplex v1.170 TMTC2 Zornitza Stark Publications for gene: TMTC2 were set to
Deafness_IsolatedAndComplex v1.169 TMTC2 Zornitza Stark Mode of inheritance for gene: TMTC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.168 TMTC2 Zornitza Stark commented on gene: TMTC2: Single family reported with bi-allelic variants. Mouse model.
Deafness_IsolatedAndComplex v1.168 TMTC2 Zornitza Stark edited their review of gene: TMTC2: Changed publications: 29671961, 27311106, 37943620, 30188326; Changed phenotypes: Deafness, autosomal recessive 122, MIM# 620714; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.168 MANF Zornitza Stark Marked gene: MANF as ready
Deafness_IsolatedAndComplex v1.168 MANF Zornitza Stark Gene: manf has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.168 MANF Zornitza Stark Classified gene: MANF as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.168 MANF Zornitza Stark Gene: manf has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.167 MANF Zornitza Stark gene: MANF was added
gene: MANF was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: MANF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANF were set to 26077850; 33500254; 34815294
Phenotypes for gene: MANF were set to Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651
Review for gene: MANF was set to AMBER
Added comment: Two individuals reported with homozygous variants. Mouse model recapitulates deafness phenotype.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.166 FOXL1 Zornitza Stark Marked gene: FOXL1 as ready
Deafness_IsolatedAndComplex v1.166 FOXL1 Zornitza Stark Gene: foxl1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.166 FOXL1 Zornitza Stark Classified gene: FOXL1 as Red List (low evidence)
Deafness_IsolatedAndComplex v1.166 FOXL1 Zornitza Stark Gene: foxl1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.165 OTOA Zornitza Stark Tag SV/CNV tag was added to gene: OTOA.
Deafness_IsolatedAndComplex v1.165 FOXL1 Lilian Downie gene: FOXL1 was added
gene: FOXL1 was added to Deafness_IsolatedAndComplex. 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_IsolatedAndComplex v1.165 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_IsolatedAndComplex v1.164 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_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Deafness_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Classified gene: ATP6V1B2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.163 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Deafness_IsolatedAndComplex v1.163 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.163 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 to Nail-patella syndrome (MIM#161200), MONDO:0008061
Deafness_IsolatedAndComplex v1.162 LMX1B Zornitza Stark Classified gene: LMX1B as Green List (high evidence)
Deafness_IsolatedAndComplex v1.162 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.161 ATP6V1B2 Manny Jacobs gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: ATP6V1B2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1B2 were set to PMID: 24913193; 28396750; 34746137; 32873933; 25915598
Phenotypes for gene: ATP6V1B2 were set to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy
Review for gene: ATP6V1B2 was set to GREEN
Added comment: Pathogenic variation in this gene is associated with a group of syndromes with clinical overlap, though deafness is a common feature.

PMID: 32873933; 28396750 - recurrent truncating variant (NM_001693.4:c.1516C>T; p.Arg506*) with a supporting mouse model (PMID: 34746137).
Sources: Literature
Deafness_IsolatedAndComplex v1.161 LMX1B Manny Jacobs gene: LMX1B was added
gene: LMX1B was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMX1B were set to PMID: 27450397, 32457516, 15928687
Phenotypes for gene: LMX1B were set to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Review for gene: LMX1B was set to GREEN
Added comment: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy).

PMID 15928687 - reports 11 individuals across four families with sensorineural hearing impairment and NPS.
Sources: Literature
Deafness_IsolatedAndComplex v1.161 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss to Deafness, autosomal dominant 83, MIM# 619808
Deafness_IsolatedAndComplex v1.160 MAP1B Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 83, MIM# 619808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.160 GJB6 Zornitza Stark Mode of inheritance for gene: GJB6 was changed from Unknown to Other
Deafness_IsolatedAndComplex v1.159 GJB6 Zornitza Stark edited their review of gene: GJB6: Changed mode of inheritance: Other
Deafness_IsolatedAndComplex v1.159 GJB6 Zornitza Stark Classified gene: GJB6 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.159 GJB6 Zornitza Stark Gene: gjb6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.158 GJB6 Zornitza Stark Tag SV/CNV tag was added to gene: GJB6.
Deafness_IsolatedAndComplex v1.158 GJB6 Zornitza Stark changed review comment from: Association with deafness classified as REFUTED by ClinGen.; to: Association os SNVs in this gene with isolated deafness classified as REFUTED by ClinGen.

The GJB6-D13S1830 deletion is a relatively common disease allele in many populations and is classified as pathogenic for hearing loss, frequently identified in homozygosity or in trans with a pathogenic GJB2 variant. This is a deletion of approximately 309kb of DNA including the 5' end of GJB6 and a region upstream of both GJB6 and the GJB2 gene. It has been proposed that GJB6 and GJB2 are co-regulated by a cis-acting element (Ahmad 2007 PMID 17227867).

GREEN rating on the panel relates to the DELETION ONLY.
Deafness_IsolatedAndComplex v1.158 GJB6 Zornitza Stark edited their review of gene: GJB6: Changed rating: GREEN
Deafness_IsolatedAndComplex v1.158 COL4A6 Zornitza Stark Classified gene: COL4A6 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.158 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.157 COL4A6 Zornitza Stark edited their review of gene: COL4A6: Changed rating: AMBER
Deafness_IsolatedAndComplex v1.157 COL4A6 Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813

Family A:
- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6
- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.

Family B:
- Variant does not segregate within family with the proband being WT in this gene
- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.

In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed publications: 23714752, 33840813
Deafness_IsolatedAndComplex v1.157 TUBB4B Chirag Patel reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.157 GPR156 Zornitza Stark Marked gene: GPR156 as ready
Deafness_IsolatedAndComplex v1.157 GPR156 Zornitza Stark Gene: gpr156 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.157 GPR156 Zornitza Stark Classified gene: GPR156 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.157 GPR156 Zornitza Stark Gene: gpr156 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.156 GPR156 Anna Ritchie gene: GPR156 was added
gene: GPR156 was added to Deafness_IsolatedAndComplex. 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
Review for gene: GPR156 was set to GREEN
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_IsolatedAndComplex v1.156 ABHD12 Lilian Downie Deleted their review
Deafness_IsolatedAndComplex v1.156 ABHD12 Lilian Downie Deleted their comment
Deafness_IsolatedAndComplex v1.156 ABHD12 Lilian Downie reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.156 USP48 Zornitza Stark Phenotypes for gene: USP48 were changed from Nonsyndromic genetic deafness, MONDO:0019497 to Deafness, autosomal dominant 85, MIM# 620227
Deafness_IsolatedAndComplex v1.155 USP48 Zornitza Stark edited their review of gene: USP48: Changed phenotypes: Deafness, autosomal dominant 85, MIM# 620227
Deafness_IsolatedAndComplex v1.155 CRLS1 Zornitza Stark Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167
Deafness_IsolatedAndComplex v1.154 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Deafness_IsolatedAndComplex v1.154 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.154 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Deafness_IsolatedAndComplex v1.154 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.153 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31949313; 32083401
Phenotypes for gene: KMT2D were set to Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186
Review for gene: KMT2D was set to GREEN
Added comment: Note new association between missense variants located in a specific region of KMT2D spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
- >10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.152 Zornitza Stark HPO terms changed from to Hearing impairment, HP:0000365
List of related panels changed from to Hearing impairment; HP:0000365
Deafness_IsolatedAndComplex v1.151 KCNJ16 Zornitza Stark Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness
Deafness_IsolatedAndComplex v1.150 KCNJ16 Zornitza Stark edited their review of gene: KCNJ16: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, KCNJ16-related, Renal tubulopathy, deafness
Deafness_IsolatedAndComplex v1.150 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.148 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Gene: mtss1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Classified gene: MTSS1L as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Gene: mtss1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.147 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to AMBER
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with sensorineural hearing loss (2/4)
- Overexpression supports a DN mechanism
Sources: Literature
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.145 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Deafness_IsolatedAndComplex v1.144 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022
Deafness_IsolatedAndComplex v1.143 COL9A3 Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022
Deafness_IsolatedAndComplex v1.143 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Deafness_IsolatedAndComplex v1.143 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.143 TMEM43 Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.143 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.142 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to Deafness_IsolatedAndComplex. 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_IsolatedAndComplex v1.141 THUMPD1 Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
Deafness_IsolatedAndComplex v1.140 THUMPD1 Zornitza Stark reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.140 KITLG Zornitza Stark Phenotypes for gene: KITLG were changed from Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 to Waardenburg syndrome, MONDO:0018094, KITLG-related; Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
Deafness_IsolatedAndComplex v1.139 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.138 KITLG Zornitza Stark Classified gene: KITLG as Green List (high evidence)
Deafness_IsolatedAndComplex v1.138 KITLG Zornitza Stark Gene: kitlg has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.137 KITLG Dean Phelan reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 35543077, 28504826, 19375057, 21368769; Phenotypes: deafness, heterochromia iridis, hypopigmentation of the skin, hyperpigmentation of the skin, Waardenburg syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.137 GREB1L Zornitza Stark Marked gene: GREB1L as ready
Deafness_IsolatedAndComplex v1.137 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.137 GREB1L Zornitza Stark Classified gene: GREB1L as Green List (high evidence)
Deafness_IsolatedAndComplex v1.137 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.136 GREB1L Manny Jacobs gene: GREB1L was added
gene: GREB1L was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to PMID: 29100091; 29955957; 32585897; 35012281
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274
Review for gene: GREB1L was set to GREEN
Added comment: 7 unrelated families reported for non syndromic AD deafness

Multiple unrelated families reported with CAKUT
Sources: Literature
Deafness_IsolatedAndComplex v1.136 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Deafness_IsolatedAndComplex v1.136 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.136 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.136 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.134 LRP2 Chirag Patel gene: LRP2 was added
gene: LRP2 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to PMID: 17632512
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness.

Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
Sources: Expert list
Deafness_IsolatedAndComplex v1.133 MSRB3 Zornitza Stark edited their review of gene: MSRB3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.133 MSRB3 Zornitza Stark edited their review of gene: MSRB3: Changed rating: GREEN
Deafness_IsolatedAndComplex v1.133 FOXI1 Bryony Thompson Phenotypes for gene: FOXI1 were changed from Enlarged vestibular aqueduct, MIM# 600791 to autosomal recessive distal renal tubular acidosis MONDO:0018440
Deafness_IsolatedAndComplex v1.132 FOXI1 Bryony Thompson Publications for gene: FOXI1 were set to 29242249; 9843211; 17503324
Deafness_IsolatedAndComplex v1.131 FOXI1 Bryony Thompson reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843211, 12642503, 29242249, 17503324, 30268946, 27997596, 22285650, 23965030, 24860705, 32447495, 19204907; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.131 HAAO Zornitza Stark Publications for gene: HAAO were set to 28792876
Deafness_IsolatedAndComplex v1.130 HAAO Zornitza Stark edited their review of gene: HAAO: Added comment: PMID 33942433: three additional families.; Changed publications: 28792876, 33942433
Deafness_IsolatedAndComplex v1.130 CCDC50 Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.130 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.129 CCDC50 Zornitza Stark edited their review of gene: CCDC50: Added comment: PMID 24875298 reviewed: Segregation in 4 individuals in one family with deafness. 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_IsolatedAndComplex v1.129 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Deafness_IsolatedAndComplex v1.129 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.129 DCAF17 Zornitza Stark Classified gene: DCAF17 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.129 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.128 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080
Review for gene: DCAF17 was set to GREEN
Added comment: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder characterised by hypogonadism and ID. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant. Multiple families from different backgrounds reported. In a cohort of 58 individuals from Qatar reported in PMID 3459078: ectodermal and endocrine (primary hypogonadism) manifestations were the most common presentations (100%), followed by diabetes mellitus (46%) and hypothyroidism (36%). Neurological manifestations were overlapping with intellectual disability (ID) being the most common (75%), followed by sensorineural hearing loss (43%) and both ID and aggressive behaviour (10%).
Sources: Expert Review
Deafness_IsolatedAndComplex v1.127 CD164 Alison Yeung Publications for gene: CD164 were set to 26197441; 35254497; 26197441
Deafness_IsolatedAndComplex v1.126 CD164 Alison Yeung Publications for gene: CD164 were set to 26197441; 35254497; 26197441
Deafness_IsolatedAndComplex v1.126 CD164 Alison Yeung Publications for gene: CD164 were set to 26197441
Deafness_IsolatedAndComplex v1.125 CD164 Alison Yeung Classified gene: CD164 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.125 CD164 Alison Yeung Gene: cd164 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.125 CD164 Alison Yeung Classified gene: CD164 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.125 CD164 Alison Yeung Gene: cd164 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.124 CD164 Michelle Torres reviewed gene: CD164: Rating: GREEN; Mode of pathogenicity: None; Publications: 35254497, 26197441; Phenotypes: autosomal dominant nonsyndromic hearing loss MONDO:0019587 CD164-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.124 HGF Zornitza Stark edited their review of gene: HGF: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.124 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_IsolatedAndComplex v1.123 RIPOR2 Zornitza Stark edited their review of gene: RIPOR2: Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant 21, MIM# 607017
Deafness_IsolatedAndComplex v1.123 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_IsolatedAndComplex v1.122 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to 30535804
Deafness_IsolatedAndComplex v1.121 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_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.120 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related
Review for gene: CRLS1 was set to GREEN
Added comment: - Three families (4 individuals) with cardiolipin deficiency.
- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.
- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.
- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis

*2 individuals with auditory neuropathy and one with sensorineural hearing loss
Sources: Literature
Deafness_IsolatedAndComplex v1.120 Zornitza Stark removed gene:HIST1H4I from the panel
Deafness_IsolatedAndComplex v1.119 HIST1H4I Elena Savva gene: HIST1H4I was added
gene: HIST1H4I was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: HIST1H4I was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H4I were set to PMID: 35202563
Phenotypes for gene: HIST1H4I were set to Neurodevelopmental disorders
Review for gene: HIST1H4I was set to AMBER
Added comment: PMID: 35202563
- 3 unrelated de novo patients, p.His75Arg was recurring and observed in 2/3 probands.
- Zebrafish study shows both variants resulted in a significant increases in developmental issues such as in mild dev delay, necrosis and defective organogenesis.
- All patients had intellectual disability and motor and/or gross developmental delay and dysmorphisms.
- 2/3 patients showed bilateral conductive hearing loss
Sources: Literature
Deafness_IsolatedAndComplex v1.119 EHD1 Zornitza Stark Marked gene: EHD1 as ready
Deafness_IsolatedAndComplex v1.119 EHD1 Zornitza Stark Gene: ehd1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.119 EHD1 Zornitza Stark Classified gene: EHD1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.119 EHD1 Zornitza Stark Gene: ehd1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.118 EHD1 Zornitza Stark gene: EHD1 was added
gene: EHD1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: EHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHD1 were set to 35149593
Phenotypes for gene: EHD1 were set to Inherited renal tubular disease, MONDO:0015962, EHD1-related
Review for gene: EHD1 was set to AMBER
Added comment: Six individuals (5-33 years) with proteinuria and a high-frequency hearing deficit reported with the homozygous missense variant c.1192C>T (p.R398W) in EHD1. Proteinuria (0.7-2.1 g/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins. Ehd1 knockout and Ehd1R398W/R398W knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran.

Single founder variant but two animal models, hence Amber
Sources: Literature
Deafness_IsolatedAndComplex v1.117 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737
Deafness_IsolatedAndComplex v1.116 KIAA0391 Zornitza Stark Tag new gene name tag was added to gene: KIAA0391.
Deafness_IsolatedAndComplex v1.116 KIAA0391 Zornitza Stark edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737
Deafness_IsolatedAndComplex v1.116 THUMPD1 Zornitza Stark Marked gene: THUMPD1 as ready
Deafness_IsolatedAndComplex v1.116 THUMPD1 Zornitza Stark Gene: thumpd1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.116 THUMPD1 Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related
Deafness_IsolatedAndComplex v1.115 THUMPD1 Zornitza Stark Classified gene: THUMPD1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.115 THUMPD1 Zornitza Stark Gene: thumpd1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.114 THUMPD1 Chern Lim changed review comment from: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other; to: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Deafness_IsolatedAndComplex v1.114 THUMPD1 Chern Lim changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other; to: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Deafness_IsolatedAndComplex v1.114 THUMPD1 Chern Lim gene: THUMPD1 was added
gene: THUMPD1 was added to Deafness_IsolatedAndComplex. Sources: Other
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR
Review for gene: THUMPD1 was set to GREEN
gene: THUMPD1 was marked as current diagnostic
Added comment: Broly, M. et al. (2022) manuscript accepted in AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Deafness_IsolatedAndComplex v1.114 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to 23714752
Deafness_IsolatedAndComplex v1.113 COL4A6 Zornitza Stark Classified gene: COL4A6 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.113 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.112 COL4A6 Lucy Spencer reviewed gene: COL4A6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33840813; Phenotypes: ?Deafness, X-linked 6, MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v1.112 OGDHL Zornitza Stark Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Deafness_IsolatedAndComplex v1.111 OGDHL Zornitza Stark reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.111 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Deafness_IsolatedAndComplex v1.110 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Deafness_IsolatedAndComplex v1.110 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Classified gene: GATA2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.109 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21670465; 21242295; 21892158
Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Review for gene: GATA2 was set to GREEN
Added comment: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome': gene included in this panel for this association (likely represents continuum rather than distinct disorder).

Over 20 unrelated individuals reported.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Marked gene: USP53 as ready
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Classified gene: USP53 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.107 USP53 Zornitza Stark changed review comment from: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years).

Deafness reported in two families, childhood onset.
Sources: Expert Review; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years).

Deafness reported in two families, childhood onset.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.107 USP53 Zornitza Stark gene: USP53 was added
gene: USP53 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to 30250217; 32124521; 33075013
Phenotypes for gene: USP53 were set to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Review for gene: USP53 was set to AMBER
Added comment: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years).

Deafness reported in two families, childhood onset.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.106 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Deafness_IsolatedAndComplex v1.104 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_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed phenotypes: Deafness, autosomal recessive 61, MIM# 613865
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Marked gene: OGDHL as ready
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Classified gene: OGDHL as Green List (high evidence)
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.103 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia
Deafness_IsolatedAndComplex v1.103 OGDHL Melanie Marty gene: OGDHL was added
gene: OGDHL was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to 34800363
Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Review for gene: OGDHL was set to GREEN
Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Classified gene: AMMECR1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.102 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AMMECR1 were set to 27811305; 28089922; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Review for gene: AMMECR1 was set to GREEN
Added comment: More than 5 unrelated individuals reported with midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Anaemia is sometimes present. Some individuals may show mild early motor or speech delay, but cognition is normal. Onset is in early childhood.
Sources: Expert list
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.100 SPATA5L1 Zornitza Stark gene: SPATA5L1 was added
gene: SPATA5L1 was added to Deafness_IsolatedAndComplex. 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 Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; 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_IsolatedAndComplex v1.99 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Deafness_IsolatedAndComplex v1.99 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.99 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Deafness_IsolatedAndComplex v1.98 HOXA1 Zornitza Stark Classified gene: HOXA1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.98 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.97 HOXA1 Ain Roesley gene: HOXA1 was added
gene: HOXA1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXA1 were set to 16155570; 18412118; 32864817
Phenotypes for gene: HOXA1 were set to thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Penetrance for gene: HOXA1 were set to Complete
Review for gene: HOXA1 was set to GREEN
gene: HOXA1 was marked as current diagnostic
Added comment: At least 10 families reported.

175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the native american variant.

Features include:
Conotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base

Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders.
Sources: Literature
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Deafness_IsolatedAndComplex v1.96 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.96 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.95 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Review for gene: KIAA0391 was set to GREEN
Added comment: Sources: Literature
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Marked gene: USP48 as ready
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Classified gene: USP48 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.94 USP48 Zornitza Stark gene: USP48 was added
gene: USP48 was added to Deafness_IsolatedAndComplex. 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_IsolatedAndComplex v1.93 SPEN Zornitza Stark Marked gene: SPEN as ready
Deafness_IsolatedAndComplex v1.93 SPEN Zornitza Stark Gene: spen has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.93 SPEN Zornitza Stark Classified gene: SPEN as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.93 SPEN Zornitza Stark Gene: spen has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.92 SPEN Elena Savva gene: SPEN was added
gene: SPEN was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPEN were set to PMID: 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome MIM#619312
Review for gene: SPEN was set to AMBER
Added comment: PMID: 33596411
- 34 individuals with truncating variants in SPEN reported, most are de novo variants.
- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.

Hearing loss reported in ~10% of patients, uncommon phenotype
Sources: Literature
Deafness_IsolatedAndComplex v1.92 GGPS1 Zornitza Stark Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency
Deafness_IsolatedAndComplex v1.91 GGPS1 Zornitza Stark edited their review of gene: GGPS1: Changed phenotypes: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518, Muscular dystrophy, Deafness, Ovarian insufficiency
Deafness_IsolatedAndComplex v1.91 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Deafness_IsolatedAndComplex v1.91 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.91 MAP1B Zornitza Stark Classified gene: MAP1B as Green List (high evidence)
Deafness_IsolatedAndComplex v1.91 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.90 MAP1B Elena Savva gene: MAP1B was added
gene: MAP1B was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP1B were set to PMID: 33268592
Phenotypes for gene: MAP1B were set to Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss
Review for gene: MAP1B was set to GREEN
Added comment: PMID: 33268592 - three unrelated patients with heterozygous missense variants and nonsyndromic sensorineural hearing loss. Functional studies on one missense show reduced protein expression and less phosphorylation.
Variant correction via CRISPR rescued cell dysfunction, and K/O mice show hearing loss
Sources: Literature
Deafness_IsolatedAndComplex v1.90 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant 81, MIM# 619500
Deafness_IsolatedAndComplex v1.89 ELMOD3 Zornitza Stark edited their review of gene: ELMOD3: Changed phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant 81, MIM# 619500
Deafness_IsolatedAndComplex v1.89 RNF220 Zornitza Stark Marked gene: RNF220 as ready
Deafness_IsolatedAndComplex v1.89 RNF220 Zornitza Stark Gene: rnf220 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.89 RNF220 Zornitza Stark Classified gene: RNF220 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.89 RNF220 Zornitza Stark Gene: rnf220 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.88 RNF220 Zornitza Stark gene: RNF220 was added
gene: RNF220 was added to Deafness_IsolatedAndComplex. Sources: Literature
founder tags were added to gene: RNF220.
Mode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF220 were set to 33964137; 10881263
Phenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Review for gene: RNF220 was set to GREEN
Added comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.

Other neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).

The authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).

Extensive segregation analyses were carried out including several affected and unaffected members.

RNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development

Evidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :
*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)
*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.
*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.
*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2).
*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.
*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.
*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies.
Sources: Literature
Deafness_IsolatedAndComplex v1.87 CLDN9 Bryony Thompson Publications for gene: CLDN9 were set to 31175426; 19696885
Deafness_IsolatedAndComplex v1.86 CLDN9 Bryony Thompson Classified gene: CLDN9 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.86 CLDN9 Bryony Thompson Gene: cldn9 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.85 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_IsolatedAndComplex v1.85 AK2 Zornitza Stark Marked gene: AK2 as ready
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Classified gene: AK2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.84 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416
Phenotypes for gene: AK2 were set to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973
Review for gene: AK2 was set to GREEN
Added comment: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Sources: Literature
Deafness_IsolatedAndComplex v1.83 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature; deafness to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness
Deafness_IsolatedAndComplex v1.82 KDM3B Zornitza Stark edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, short stature, deafness
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Marked gene: YARS as ready
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Classified gene: YARS as Green List (high evidence)
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.81 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Review for gene: YARS was set to GREEN
Added comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Deafness_IsolatedAndComplex v1.80 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to 23345450; 24211385
Deafness_IsolatedAndComplex v1.79 P2RX2 Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791800; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Marked gene: KDM3B as ready
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Classified gene: KDM3B as Green List (high evidence)
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.78 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; short stature; deafness
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B (inherited variants segregated with phenotype). 4 individuals had deafness.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Marked gene: KCNJ16 as ready
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Classified gene: KCNJ16 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.76 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness
Review for gene: KCNJ16 was set to GREEN
Added comment: 8 unrelated families reported.
Sources: Literature
Deafness_IsolatedAndComplex v1.75 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to 29961569
Deafness_IsolatedAndComplex v1.74 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.74 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.73 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376980; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.73 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Deafness_IsolatedAndComplex v1.72 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.71 ZMIZ1 Michelle Torres gene: ZMIZ1 was added
gene: ZMIZ1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659)
Review for gene: ZMIZ1 was set to GREEN
Added comment: Out of 19 individuals reported with a neurodevelopmental phenotype (16 unrelated), 4 presented hearing loss. One of these individuals (#13) also had 2 affected siblings that did not present hearing loss (#14 and #15) (PMID: 30639322).
Sources: Literature
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.70 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Deafness_IsolatedAndComplex v1.69 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; MONDO:0010549
Deafness_IsolatedAndComplex v1.68 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Deafness_IsolatedAndComplex v1.67 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v1.66 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v1.65 GJB1 Zornitza Stark Classified gene: GJB1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.65 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Tag SV/CNV tag was added to gene: NMNAT1.
Tag founder tag was added to gene: NMNAT1.
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Classified gene: NMNAT1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.63 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 32533184; 33668384
Phenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Review for gene: NMNAT1 was set to AMBER
Added comment: Three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.
Sources: Literature
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Classified gene: TXNL4A as Green List (high evidence)
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.61 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Deafness_IsolatedAndComplex. Sources: Expert Review
SV/CNV, 5'UTR tags were added to gene: TXNL4A.
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNL4A were set to 25434003
Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Review for gene: TXNL4A was set to GREEN
Added comment: Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Note 34-bp deletion in the promoter of the TXNL4A gene (chr18:77,748,581-77,748,614del, GRCh37) was identified in heterozygous or homozygous state in all the families reported originally. Haplotype analysis revealed that the promoter deletions were located on different haplotypes and thus most likely occurred due to recurrent events rather than a founder effect.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.60 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Conductive and sensorineural hearing loss to Conductive and sensorineural hearing loss; CEBALID syndrome, MIM# 618774
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Marked gene: MN1 as ready
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Classified gene: MN1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.58 MN1 Michelle Torres gene: MN1 was added
gene: MN1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MN1 were set to 31834374
Phenotypes for gene: MN1 were set to Conductive and sensorineural hearing loss
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: MN1 is associated to CEBALID syndrome (MIM# 618774), and 16 out of 20 individuals with this condition reported by PMID 31834374, presented conductive or sensorineural hearing loss, accompanied by other features such as facial dysmorphism and ID.
Sources: Literature
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.57 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP2 were set to 15793586; 22887808; 23995685; 23726037; 27761245; 20460369; 32677750; 32015000
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Review for gene: CDK5RAP2 was set to GREEN
Added comment: More than 10 unrelated families and an animal model support gene-disease association. In addition to microcephaly and ID, a recent series of 7 deeply phenotyped individuals also reported small cochlea with incomplete partition type II was found in all cases, which was associated with progressive deafness in 4. Microphthalmia was also present in all along with retinal pigmentation changes and lipofuscin deposits. Finally, hypothalamic anomalies consisting of interhypothalamic adhesions, a congenital midline defect usually associated with holoprosencephaly, was detected in 5 cases.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.56 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101; dominant deafness
Deafness_IsolatedAndComplex v1.55 MYO3A Zornitza Stark Publications for gene: MYO3A were set to 21165622; 26754646; 23990876
Deafness_IsolatedAndComplex v1.54 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.53 MYO3A Zornitza Stark changed review comment from: Multiple families and animal model data.; to: Multiple families and animal model data support association of bi-allelic variants and deafness.

Variants in this gene has also been associated with autosomal dominant hearing loss in an African American family (PMID: 26841241 Grati et al 2016) and 2 large, remotely-related Brazilian families (PMID: 29880844 - Dantas et al 2018, same variant reported in the 2 families): association of mono-allelic variants with deafness is limited/moderate.
Deafness_IsolatedAndComplex v1.53 MYO3A Zornitza Stark edited their review of gene: MYO3A: Changed publications: 21165622, 26754646, 23990876, 33078831, 26841241, 29880844; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.53 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM# 613916 to Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196; Deafness, autosomal recessive 89, MIM# 613916
Deafness_IsolatedAndComplex v1.52 KARS Zornitza Stark edited their review of gene: KARS: Changed phenotypes: Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Deafness_IsolatedAndComplex v1.52 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.52 CRYM Zornitza Stark Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Deafness_IsolatedAndComplex v1.51 CRYM Zornitza Stark Classified gene: CRYM as Green List (high evidence)
Deafness_IsolatedAndComplex v1.51 CRYM Zornitza Stark Gene: crym has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.50 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: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Deafness_IsolatedAndComplex v1.50 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_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark edited their review of gene: CLRN2: Changed phenotypes: Non-syndromic hearing loss, Deafness, autosomal recessive 117, MIM# 619174
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Marked gene: CLRN2 as ready
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Classified gene: CLRN2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.48 CLRN2 Zornitza Stark gene: CLRN2 was added
gene: CLRN2 was added to Deafness_IsolatedAndComplex. 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
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_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Classified gene: PDSS1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.46 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 33285023
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Review for gene: PDSS1 was set to AMBER
Added comment: Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: Literature
Deafness_IsolatedAndComplex v1.45 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Deafness_IsolatedAndComplex v1.44 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090, Developmental delay, Intellectual disability, Growth retardation, Microcephaly, Craniofacial dysmorphism, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Classified gene: FBRSL1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.43 FBRSL1 Sue White reviewed gene: FBRSL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v1.43 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to AMBER
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.
2/3 had heart defects, cleft palate and hearing impairment.
Variant pathogenicity supported by Xenopus oocyte functional studies
Sources: Literature
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark changed review comment from: Well established gene-disease association, multiple families and animal models.; to: Waardenburg syndrome: Well established gene-disease association, multiple families and animal models.
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark edited their review of gene: MITF: Changed phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome, type 2A, MIM# 193510 to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Deafness_IsolatedAndComplex v1.42 MITF Zornitza Stark Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565; 9499424; 27349893
Deafness_IsolatedAndComplex v1.41 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.40 MITF Zornitza Stark edited their review of gene: MITF: Added comment: PMID 32728090: two families reported with bi-allelic variants and isolated deafness.; Changed publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893, 32728090; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Classified gene: CHSY1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.39 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 21129728; 21129727; 24269551
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Review for gene: CHSY1 was set to GREEN
Added comment: Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.37 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 15877282; 17287286; 17301081; 23759946; 33231368; 33230181; 28243576; 27913098; 27651038
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Review for gene: SUCLA2 was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with a disorder characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. More than 10 unrelated families reported.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Classified gene: RFT1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.35 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFT1 were set to 18313027; 19701946; 19856127; 23111317; 30071302; 29923091; 27927990; 26892341
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Review for gene: RFT1 was set to GREEN
Added comment: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.34 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark commented on gene: PTPRQ: Further heterozygous variants reported in PMID 33229591.
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.32 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Review for gene: MORC2 was set to GREEN
Added comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL.
Sources: Expert list
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Marked gene: NDRG1 as ready
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Phenotypes for gene: NDRG1 were changed from to Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder; Hereditary motor and sensory neuropathy Lom
Deafness_IsolatedAndComplex v1.30 NDRG1 Bryony Thompson Publications for gene: NDRG1 were set to
Deafness_IsolatedAndComplex v1.29 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Deafness_IsolatedAndComplex v1.29 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.29 NDRG1 Bryony Thompson Classified gene: NDRG1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.29 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.28 SLC52A3 Bryony Thompson Publications for gene: SLC52A3 were set to
Deafness_IsolatedAndComplex v1.27 TRPV4 Bryony Thompson Marked gene: TRPV4 as ready
Deafness_IsolatedAndComplex v1.27 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.26 TRPV4 Bryony Thompson Publications for gene: TRPV4 were set to
Deafness_IsolatedAndComplex v1.25 TRPV4 Bryony Thompson Phenotypes for gene: TRPV4 were changed from to Auditory neuropathy spectrum disorder; Peripheral neuropathy; Hearing loss
Deafness_IsolatedAndComplex v1.24 TRPV4 Bryony Thompson Classified gene: TRPV4 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.24 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.23 TRPV4 Bryony Thompson Classified gene: TRPV4 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.23 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.21 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.20 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Deafness_IsolatedAndComplex v1.19 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.17 CLDN9 Zornitza Stark Phenotypes for gene: CLDN9 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 116, MIM#619093
Deafness_IsolatedAndComplex v1.16 CLDN9 Zornitza Stark edited their review of gene: CLDN9: Changed phenotypes: Deafness, autosomal recessive 116, MIM#619093
Deafness_IsolatedAndComplex v1.16 SCD5 Zornitza Stark Marked gene: SCD5 as ready
Deafness_IsolatedAndComplex v1.16 SCD5 Zornitza Stark Gene: scd5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.16 SCD5 Zornitza Stark gene: SCD5 was added
gene: SCD5 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCD5 were set to 31972369
Phenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086
Review for gene: SCD5 was set to RED
Added comment: Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC.
Sources: Expert list
Deafness_IsolatedAndComplex v1.15 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay; Deafness, autosomal dominant 78, MIM# 619081
Deafness_IsolatedAndComplex v1.14 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies, Deafness, autosomal dominant 78, MIM# 619081
Deafness_IsolatedAndComplex v1.14 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay
Deafness_IsolatedAndComplex v1.13 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies
Deafness_IsolatedAndComplex v1.13 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092 to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v1.12 USH1C Zornitza Stark Publications for gene: USH1C were set to 10973247; 10973248; 11239869; 21203349; 12107438
Deafness_IsolatedAndComplex v1.11 USH1C Zornitza Stark Mode of inheritance for gene: USH1C was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.10 USH1C Elena Savva reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092, ?Non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.10 TBL1Y Zornitza Stark Phenotypes for gene: TBL1Y were changed from Hearing loss to Deafness, Y-linked 2, MIM# 400047
Deafness_IsolatedAndComplex v1.9 TBL1Y Zornitza Stark edited their review of gene: TBL1Y: Changed phenotypes: Deafness, Y-linked 2, MIM# 400047
Deafness_IsolatedAndComplex v1.9 MCM2 Zornitza Stark Phenotypes for gene: MCM2 were changed from Autosomal dominant hearing loss to Deafness, autosomal dominant 70, MIM# 616968
Deafness_IsolatedAndComplex v1.8 MCM2 Zornitza Stark reviewed gene: MCM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 70, MIM# 616968; Mode of inheritance: None
Deafness_IsolatedAndComplex v1.8 GJB4 Zornitza Stark Phenotypes for gene: GJB4 were changed from to Deafness
Deafness_IsolatedAndComplex v1.7 GJB4 Zornitza Stark edited their review of gene: GJB4: Changed phenotypes: Deafness
Deafness_IsolatedAndComplex v1.7 TMTC2 Zornitza Stark Phenotypes for gene: TMTC2 were changed from to Deafness, autosomal dominant
Deafness_IsolatedAndComplex v1.6 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness, MIM# 617879
Deafness_IsolatedAndComplex v1.5 TUBB4B Zornitza Stark reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis with early-onset deafness, MIM# 617879; Mode of inheritance: None
Deafness_IsolatedAndComplex v1.5 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Added comment: Second family with bi-allelic variants reported, encephalopathy and deafness.; Changed publications: 30740830, 32754646
Deafness_IsolatedAndComplex v1.5 PLOD3 Zornitza Stark Phenotypes for gene: PLOD3 were changed from Sensorineural deafness to Lysyl hydroxylase 3 deficiency, MIM# 612394; Sensorineural deafness
Deafness_IsolatedAndComplex v1.4 PLOD3 Zornitza Stark reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM# 612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.4 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_IsolatedAndComplex v1.3 DMXL2 Zornitza Stark Phenotypes for gene: DMXL2 were changed from Autosomal dominant hearing loss; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness to Deafness, autosomal dominant 71, MIM#617605; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness
Deafness_IsolatedAndComplex v1.2 DMXL2 Zornitza Stark reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 71, MIM#617605, Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.2 AP1B1 Zornitza Stark Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150; Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Deafness_IsolatedAndComplex v1.1 AP1B1 Zornitza Stark edited their review of gene: AP1B1: Changed phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150, Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma
Deafness_IsolatedAndComplex v1.1 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome 1, MIM# 243310; Dystonia, juvenile-onset, MIM# 607371
Deafness_IsolatedAndComplex v1.0 ACTB Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310, Dystonia, juvenile-onset, MIM# 607371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.0 Zornitza Stark promoted panel to version 1.0
Deafness_IsolatedAndComplex v0.587 THOC1 Melanie Marty changed review comment from: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.
Functional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the and the hypomorphic thoc1 in mouse induced hair cell apoptosis.
Sources: Literature; to: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.
Functional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the hypomorphic thoc1 in mouse induced hair cell apoptosis.
Sources: Literature
Deafness_IsolatedAndComplex v0.587 THOC1 Zornitza Stark Marked gene: THOC1 as ready
Deafness_IsolatedAndComplex v0.587 THOC1 Zornitza Stark Gene: thoc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.587 THOC1 Zornitza Stark Classified gene: THOC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.587 THOC1 Zornitza Stark Gene: thoc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.586 THOC1 Melanie Marty changed review comment from: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.
Functional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and in mouse it induced hair cell apoptosis.
Sources: Literature; to: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.
Functional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the and the hypomorphic thoc1 in mouse induced hair cell apoptosis.
Sources: Literature
Deafness_IsolatedAndComplex v0.586 THOC1 Melanie Marty gene: THOC1 was added
gene: THOC1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: THOC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THOC1 were set to 32776944
Phenotypes for gene: THOC1 were set to Nonsyndromic hearing loss
Review for gene: THOC1 was set to AMBER
Added comment: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.
Functional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and in mouse it induced hair cell apoptosis.
Sources: Literature
Deafness_IsolatedAndComplex v0.586 PLS1 Zornitza Stark Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76, MIM# 618787
Deafness_IsolatedAndComplex v0.585 PLS1 Zornitza Stark edited their review of gene: PLS1: Changed phenotypes: Deafness, autosomal dominant 76, MIM# 618787
Deafness_IsolatedAndComplex v0.585 HOMER2 Zornitza Stark Mode of inheritance for gene: HOMER2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.585 HOMER2 Zornitza Stark Mode of inheritance for gene: HOMER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.584 HOMER2 Zornitza Stark edited their review of gene: HOMER2: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.584 CEP250 Zornitza Stark Marked gene: CEP250 as ready
Deafness_IsolatedAndComplex v0.584 CEP250 Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.584 CEP250 Zornitza Stark Classified gene: CEP250 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.584 CEP250 Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.583 CEP250 Zornitza Stark gene: CEP250 was added
gene: CEP250 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP250 were set to 24780881; 29718797; 30459346
Phenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2, MIM# 618358
Review for gene: CEP250 was set to GREEN
Added comment: Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. Three unrelated families reported.
Sources: Expert list
Deafness_IsolatedAndComplex v0.582 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Deafness_IsolatedAndComplex v0.582 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.582 PEX1 Zornitza Stark Classified gene: PEX1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.582 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.581 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 32596134; 31831025; 27872819; 27633571; 27302843
Phenotypes for gene: PEX1 were set to Heimler syndrome 1, MIM# 234580
Review for gene: PEX1 was set to GREEN
Added comment: Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum, is a rare autosomal recessive disorder characterised by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, nail abnormalities, and retinitis pigmentosa. More than 5 unrelated families reported.
Sources: Expert list
Deafness_IsolatedAndComplex v0.580 KCNJ10 Zornitza Stark edited their review of gene: KCNJ10: Changed rating: GREEN; Changed phenotypes: SESAME syndrome 612780; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.580 TPRN Zornitza Stark Marked gene: TPRN as ready
Deafness_IsolatedAndComplex v0.580 TPRN Zornitza Stark Gene: tprn has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.580 TPRN Zornitza Stark Phenotypes for gene: TPRN were changed from to Deafness, autosomal recessive 79, MIM# 613307
Deafness_IsolatedAndComplex v0.579 TPRN Zornitza Stark Publications for gene: TPRN were set to
Deafness_IsolatedAndComplex v0.578 TPRN Zornitza Stark Mode of inheritance for gene: TPRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.577 TPRN Zornitza Stark edited their review of gene: TPRN: Changed phenotypes: Deafness, autosomal recessive 79, MIM# 613307
Deafness_IsolatedAndComplex v0.577 TPRN Zornitza Stark reviewed gene: TPRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19603065, 20170898, 20170899, 23340767, 25129962, 20170899, 20170899, 27693694, 24285636; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.577 TMC1 Zornitza Stark Marked gene: TMC1 as ready
Deafness_IsolatedAndComplex v0.577 TMC1 Zornitza Stark Gene: tmc1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.577 TMC1 Zornitza Stark Phenotypes for gene: TMC1 were changed from to Deafness, autosomal dominant 36, MIM# 606705; Deafness, autosomal recessive 7, MIM# 600974
Deafness_IsolatedAndComplex v0.576 TMC1 Zornitza Stark Publications for gene: TMC1 were set to
Deafness_IsolatedAndComplex v0.575 TMC1 Zornitza Stark Mode of inheritance for gene: TMC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.574 TMC1 Zornitza Stark reviewed gene: TMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11850618, 17250663, 18616530, 24827932, 11850623, 22105175; Phenotypes: Deafness, autosomal dominant 36, MIM# 606705, Deafness, autosomal recessive 7, MIM# 600974; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.574 TMIE Zornitza Stark Marked gene: TMIE as ready
Deafness_IsolatedAndComplex v0.574 TMIE Zornitza Stark Gene: tmie has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.574 TMIE Zornitza Stark Phenotypes for gene: TMIE were changed from to Deafness, autosomal recessive 6, MIM# 600971
Deafness_IsolatedAndComplex v0.573 TMIE Zornitza Stark Publications for gene: TMIE were set to
Deafness_IsolatedAndComplex v0.572 TMIE Zornitza Stark Mode of inheritance for gene: TMIE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.571 TMIE Zornitza Stark reviewed gene: TMIE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145746, 19438934, 24416283, 25467981, 25475183, 19934034, 12140191; Phenotypes: Deafness, autosomal recessive 6, MIM# 600971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.571 TRIOBP Zornitza Stark Marked gene: TRIOBP as ready
Deafness_IsolatedAndComplex v0.571 TRIOBP Zornitza Stark Gene: triobp has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.571 TRIOBP Zornitza Stark Phenotypes for gene: TRIOBP were changed from to Deafness, autosomal recessive 28, MIM# 609823
Deafness_IsolatedAndComplex v0.570 TRIOBP Zornitza Stark Publications for gene: TRIOBP were set to
Deafness_IsolatedAndComplex v0.569 TRIOBP Zornitza Stark Mode of inheritance for gene: TRIOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.568 TRIOBP Zornitza Stark reviewed gene: TRIOBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385458, 16385457, 23226338, 27014650, 24853665, 27344577, 20510926; Phenotypes: Deafness, autosomal recessive 28, MIM# 609823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.568 USH1C Zornitza Stark Marked gene: USH1C as ready
Deafness_IsolatedAndComplex v0.568 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.568 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092
Deafness_IsolatedAndComplex v0.567 USH1C Zornitza Stark Publications for gene: USH1C were set to
Deafness_IsolatedAndComplex v0.566 USH1C Zornitza Stark Mode of inheritance for gene: USH1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.565 USH1C Zornitza Stark reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.565 USH1G Zornitza Stark Marked gene: USH1G as ready
Deafness_IsolatedAndComplex v0.565 USH1G Zornitza Stark Gene: ush1g has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.565 USH1G Zornitza Stark Phenotypes for gene: USH1G were changed from to Usher syndrome, type 1G, MIM# 606943
Deafness_IsolatedAndComplex v0.564 USH1G Zornitza Stark Mode of inheritance for gene: USH1G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.563 USH1G Zornitza Stark reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1G, MIM# 606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.563 USH2A Zornitza Stark Marked gene: USH2A as ready
Deafness_IsolatedAndComplex v0.563 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.563 USH2A Zornitza Stark Phenotypes for gene: USH2A were changed from to Usher syndrome, type 2A, MIM# 276901
Deafness_IsolatedAndComplex v0.562 USH2A Zornitza Stark Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.561 USH2A Zornitza Stark reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2A, MIM# 276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.561 STRC Zornitza Stark Marked gene: STRC as ready
Deafness_IsolatedAndComplex v0.561 STRC Zornitza Stark Gene: strc has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.561 STRC Zornitza Stark Phenotypes for gene: STRC were changed from to Deafness, autosomal recessive 16, MIM# 603720
Deafness_IsolatedAndComplex v0.560 STRC Zornitza Stark Publications for gene: STRC were set to
Deafness_IsolatedAndComplex v0.559 STRC Zornitza Stark Mode of inheritance for gene: STRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.558 STRC Zornitza Stark Tag SV/CNV tag was added to gene: STRC.
Deafness_IsolatedAndComplex v0.558 STRC Zornitza Stark reviewed gene: STRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687802, 26011646, 26746617, 20301780; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.558 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Deafness_IsolatedAndComplex v0.558 SIX1 Zornitza Stark Gene: six1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.558 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from to Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389
Deafness_IsolatedAndComplex v0.557 SIX1 Zornitza Stark Publications for gene: SIX1 were set to
Deafness_IsolatedAndComplex v0.556 SIX1 Zornitza Stark Mode of inheritance for gene: SIX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.555 SIX1 Zornitza Stark reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15141091, 18330911, 21254961, 17637804, 29500469, 21700001, 24164807; Phenotypes: Deafness, autosomal dominant 23, MIM# 605192, Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.555 PTPRQ Zornitza Stark Phenotypes for gene: PTPRQ were changed from Deafness, autosomal recessive 84A, MIM# 613391 to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Changed phenotypes: Deafness, autosomal recessive 84A, MIM# 613391, Deafness, autosomal dominant 73, MIM# 617663
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark Marked gene: PTPRQ as ready
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark Gene: ptprq has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark Phenotypes for gene: PTPRQ were changed from to Deafness, autosomal recessive 84A, MIM# 613391
Deafness_IsolatedAndComplex v0.553 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to
Deafness_IsolatedAndComplex v0.552 PTPRQ Zornitza Stark Mode of inheritance for gene: PTPRQ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.551 PTPRQ Zornitza Stark reviewed gene: PTPRQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630; Phenotypes: Deafness, autosomal recessive 84A, MIM# 613391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.551 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Deafness_IsolatedAndComplex v0.551 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.551 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_IsolatedAndComplex v0.550 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Deafness_IsolatedAndComplex v0.549 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.548 PRPS1 Zornitza Stark reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512; Phenotypes: Deafness, X-linked 1, MIM# 304500, Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070, Arts syndrome, MIM# 301835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.548 POU4F3 Zornitza Stark changed review comment from: The hearing loss in DFNA15 individuals is progressive, with a highly variable age of onset between the second and fifth decades of life. The mechanism for disease is likely haploinsufficiency, due to the wide variant spectrum, however mice require only one copy of the functional gene to retain hearing. Over 80 affected individuals reported. Gene-disease association is supported by multiple lines of functional evidence.; to: The hearing loss in DFNA15 individuals is progressive, with a highly variable age of onset between the second and fifth decades of life. The mechanism for disease is likely haploinsufficiency, due to the wide variant spectrum, however mice require only one copy of the functional gene to retain hearing. Over 80 affected individuals reported. Gene-disease association is supported by multiple lines of functional evidence. DEFINITIVE by ClinGen.
Deafness_IsolatedAndComplex v0.548 POU4F3 Zornitza Stark Marked gene: POU4F3 as ready
Deafness_IsolatedAndComplex v0.548 POU4F3 Zornitza Stark Gene: pou4f3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.548 POU4F3 Zornitza Stark Phenotypes for gene: POU4F3 were changed from to Deafness, autosomal dominant 15, MIM# 602459
Deafness_IsolatedAndComplex v0.547 POU4F3 Zornitza Stark Publications for gene: POU4F3 were set to
Deafness_IsolatedAndComplex v0.546 POU4F3 Zornitza Stark Mode of inheritance for gene: POU4F3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.545 POU4F3 Zornitza Stark reviewed gene: POU4F3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18228599, 9506947, 20434433, 28545070, 15254021, 8637595; Phenotypes: Deafness, autosomal dominant 15, MIM# 602459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.545 PDZD7 Zornitza Stark Marked gene: PDZD7 as ready
Deafness_IsolatedAndComplex v0.545 PDZD7 Zornitza Stark Gene: pdzd7 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.545 PDZD7 Zornitza Stark Phenotypes for gene: PDZD7 were changed from to Deafness, autosomal recessive 57, MIM# 618003
Deafness_IsolatedAndComplex v0.544 PDZD7 Zornitza Stark Publications for gene: PDZD7 were set to
Deafness_IsolatedAndComplex v0.543 PDZD7 Zornitza Stark Mode of inheritance for gene: PDZD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.542 PDZD7 Zornitza Stark reviewed gene: PDZD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19028668, 26416264, 26849169, 27068579, 26445815, 28173822, 24334608; Phenotypes: Deafness, autosomal recessive 57, MIM# 618003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.542 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Deafness_IsolatedAndComplex v0.542 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.542 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from to Usher syndrome, type 1F, MIM# 602083; Deafness, autosomal recessive 23, MIM# 609533
Deafness_IsolatedAndComplex v0.541 PCDH15 Zornitza Stark Publications for gene: PCDH15 were set to
Deafness_IsolatedAndComplex v0.540 PCDH15 Zornitza Stark Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.539 PCDH15 Zornitza Stark reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779; Phenotypes: Usher syndrome, type 1F, MIM# 602083, Deafness, autosomal recessive 23, MIM# 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.539 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Deafness_IsolatedAndComplex v0.539 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.539 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_IsolatedAndComplex v0.538 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Deafness_IsolatedAndComplex v0.537 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.536 WFS1 Zornitza Stark edited their review of gene: WFS1: Changed publications: 11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044, 12754709, 16151413, 21446023, 21602428
Deafness_IsolatedAndComplex v0.536 WFS1 Zornitza Stark reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044; Phenotypes: Deafness, autosomal dominant 6/14/38, MIM# 600965, Wolfram syndrome 1 222300, Wolfram-like syndrome, autosomal dominant, MIM# 614296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.536 WHRN Zornitza Stark edited their review of gene: WHRN: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.536 WHRN Zornitza Stark Marked gene: WHRN as ready
Deafness_IsolatedAndComplex v0.536 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.536 WHRN Zornitza Stark Phenotypes for gene: WHRN were changed from to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084
Deafness_IsolatedAndComplex v0.535 WHRN Zornitza Stark Mode of inheritance for gene: WHRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.534 WHRN Zornitza Stark Publications for gene: WHRN were set to
Deafness_IsolatedAndComplex v0.533 WHRN Zornitza Stark edited their review of gene: WHRN: Changed phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084
Deafness_IsolatedAndComplex v0.533 WHRN Zornitza Stark changed review comment from: Association with Usher syndrome: DEFINITIVE by ClinGen, multiple families and animal models. Of note, the Whrn(neo/neo) mouse model, in which the N-terminal and long transcripts are ablated, leads to Usher syndrome (Mather et al. 2015, PMID: 26307081).

Associated with isolated AR deafness: MODERATE by ClinGen. Of note, the Whrn(wi/wi) model, which disrupts only the long and C-terminal transcripts, results in a mouse with profound hearing loss and severe vestibular defect without a retinal phenotype (Ebrahim et al. 2016, PMID: 27117407). The Whrn(tm1b/tm1b) model disrupts the C-terminal transcripts, resulting in a mouse with mild-hearing loss and no vestibular or retinal defects (Ebrahim et al. 2016, PMID: 27117407). Several families reported with AR deafness, however, in many reports, there is insufficient phenotyping to be certain an eye phenotype is absent.; to: Multiple transcripts with differential tissue expression exist for WHRN which are thought to explain the basis for distinct phenotypes. The long transcript is expressed in the retina, vestibule and cochlea, whereas the C-terminal transcript is expressed exclusively in the cochlea and vestibule and the N-terminal transcript is expressed exclusively in the retina (Ebrahim et al. 2016, PMID: 27117407).

Association with Usher syndrome: DEFINITIVE by ClinGen, multiple families and animal models. Of note, the Whrn(neo/neo) mouse model, in which the N-terminal and long transcripts are ablated, leads to Usher syndrome (Mather et al. 2015, PMID: 26307081).

Associated with isolated AR deafness: MODERATE by ClinGen. Of note, the Whrn(wi/wi) model, which disrupts only the long and C-terminal transcripts, results in a mouse with profound hearing loss and severe vestibular defect without a retinal phenotype (Ebrahim et al. 2016, PMID: 27117407). The Whrn(tm1b/tm1b) model disrupts the C-terminal transcripts, resulting in a mouse with mild-hearing loss and no vestibular or retinal defects (Ebrahim et al. 2016, PMID: 27117407). Several families reported with AR deafness, however, in many reports, there is insufficient phenotyping to be certain an eye phenotype is absent.
Deafness_IsolatedAndComplex v0.533 WHRN Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.533 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Deafness_IsolatedAndComplex v0.533 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.533 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from to Waardenburg syndrome, type 1, MIM# 193500
Deafness_IsolatedAndComplex v0.532 PAX3 Zornitza Stark Publications for gene: PAX3 were set to
Deafness_IsolatedAndComplex v0.531 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_IsolatedAndComplex v0.530 PAX3 Zornitza Stark reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27759048, 7897628, 28690861, 30314436, 25932447, 7726174, 12949970; Phenotypes: Waardenburg syndrome, type 1, MIM# 193500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.530 OTOGL Zornitza Stark Marked gene: OTOGL as ready
Deafness_IsolatedAndComplex v0.530 OTOGL Zornitza Stark Gene: otogl has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.530 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from Deafness, autosomal recessive 84B, MIM# 614944 to Deafness, autosomal recessive 84B, MIM# 614944
Deafness_IsolatedAndComplex v0.530 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from to Deafness, autosomal recessive 84B, MIM# 614944
Deafness_IsolatedAndComplex v0.529 OTOGL Zornitza Stark Publications for gene: OTOGL were set to
Deafness_IsolatedAndComplex v0.528 OTOGL Zornitza Stark Mode of inheritance for gene: OTOGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.527 OTOGL Zornitza Stark reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122586, 23850727, 25829320, ​25719458, 28426234; Phenotypes: Deafness, autosomal recessive 84B, MIM# 614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.527 RDX Zornitza Stark Marked gene: RDX as ready
Deafness_IsolatedAndComplex v0.527 RDX Zornitza Stark Gene: rdx has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.527 RDX Zornitza Stark Phenotypes for gene: RDX were changed from to Deafness, autosomal recessive 24, MIM# 611022
Deafness_IsolatedAndComplex v0.526 RDX Zornitza Stark Publications for gene: RDX were set to
Deafness_IsolatedAndComplex v0.525 RDX Zornitza Stark Mode of inheritance for gene: RDX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.524 RDX Zornitza Stark reviewed gene: RDX: Rating: GREEN; Mode of pathogenicity: None; Publications: 17226784, 19215054, 22567349, 26226137, 15314067; Phenotypes: Deafness, autosomal recessive 24, MIM# 611022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.524 OTOA Zornitza Stark Marked gene: OTOA as ready
Deafness_IsolatedAndComplex v0.524 OTOA Zornitza Stark Gene: otoa has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.524 OTOA Zornitza Stark Phenotypes for gene: OTOA were changed from to Deafness, autosomal recessive 22, MIM# 607039
Deafness_IsolatedAndComplex v0.523 OTOA Zornitza Stark Publications for gene: OTOA were set to
Deafness_IsolatedAndComplex v0.522 OTOA Zornitza Stark Mode of inheritance for gene: OTOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.521 OTOA Zornitza Stark reviewed gene: OTOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11972037, 19888295, 23173898, 16460646, 26029705, 26969326, 23129639; Phenotypes: Deafness, autosomal recessive 22, MIM# 607039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.521 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Deafness_IsolatedAndComplex v0.521 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.521 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_IsolatedAndComplex v0.520 MYO7A Zornitza Stark Publications for gene: MYO7A were set to
Deafness_IsolatedAndComplex v0.519 MYO7A Zornitza Stark Mode of inheritance for gene: MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.518 MYO7A Zornitza Stark reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9354784, 15300860, 15121790, 15221449, 16449806, 21150918, 23451214, 23383098, 28802369, 29400105, 23559863, 18181211, 25211151; Phenotypes: Deafness, autosomal dominant 11, MIM# 601317, Deafness, autosomal recessive 2, 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.518 SMPX Zornitza Stark Marked gene: SMPX as ready
Deafness_IsolatedAndComplex v0.518 SMPX Zornitza Stark Gene: smpx has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.518 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066 to Deafness, X-linked 4, MIM# 300066
Deafness_IsolatedAndComplex v0.517 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from to Deafness, X-linked 4, MIM# 300066
Deafness_IsolatedAndComplex v0.516 SMPX Zornitza Stark Publications for gene: SMPX were set to
Deafness_IsolatedAndComplex v0.515 SMPX Zornitza Stark Mode of inheritance for gene: SMPX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.514 SMPX Zornitza Stark reviewed gene: SMPX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549342, 21549336, 21893181, 22911656, 28542515; Phenotypes: Deafness, X-linked 4, MIM# 300066; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.514 MYO6 Zornitza Stark Marked gene: MYO6 as ready
Deafness_IsolatedAndComplex v0.514 MYO6 Zornitza Stark Gene: myo6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.514 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from to Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821
Deafness_IsolatedAndComplex v0.513 MYO6 Zornitza Stark Publications for gene: MYO6 were set to
Deafness_IsolatedAndComplex v0.512 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_IsolatedAndComplex v0.511 MYO6 Zornitza Stark reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105371, 11468689, 25999546, 25227905, 18348273, 27171474; Phenotypes: Deafness, autosomal dominant 22, MIM# 606346, Deafness, autosomal recessive 37, MIM# 607821; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.511 MYO15A Zornitza Stark Marked gene: MYO15A as ready
Deafness_IsolatedAndComplex v0.511 MYO15A Zornitza Stark Gene: myo15a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.511 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from to Deafness, autosomal recessive 3, MIM# 600316
Deafness_IsolatedAndComplex v0.510 MYO15A Zornitza Stark Publications for gene: MYO15A were set to
Deafness_IsolatedAndComplex v0.509 MYO15A Zornitza Stark Mode of inheritance for gene: MYO15A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.508 MYO15A Zornitza Stark reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27375115, 26226137, 23208854, 19309289, 9603735, 10915760; Phenotypes: Deafness, autosomal recessive 3, MIM# 600316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.508 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Deafness_IsolatedAndComplex v0.508 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.508 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_IsolatedAndComplex v0.507 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Deafness_IsolatedAndComplex v0.506 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.505 MYH9 Zornitza Stark edited their review of gene: MYH9: Changed phenotypes: Deafness, autosomal dominant 17, MIM# 603622, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100, MYH9-related disorders
Deafness_IsolatedAndComplex v0.505 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17, MIM# 603622, MYH9-related disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.505 MITF Zornitza Stark Marked gene: MITF as ready
Deafness_IsolatedAndComplex v0.505 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.505 MITF Zornitza Stark Phenotypes for gene: MITF were changed from to Waardenburg syndrome, type 2A, MIM# 193510
Deafness_IsolatedAndComplex v0.504 MITF Zornitza Stark Publications for gene: MITF were set to
Deafness_IsolatedAndComplex v0.503 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.502 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.502 MARVELD2 Zornitza Stark Marked gene: MARVELD2 as ready
Deafness_IsolatedAndComplex v0.502 MARVELD2 Zornitza Stark Gene: marveld2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.502 MARVELD2 Zornitza Stark Phenotypes for gene: MARVELD2 were changed from to Deafness, autosomal recessive 49, MIM# 610153
Deafness_IsolatedAndComplex v0.501 MARVELD2 Zornitza Stark Publications for gene: MARVELD2 were set to
Deafness_IsolatedAndComplex v0.500 MARVELD2 Zornitza Stark Mode of inheritance for gene: MARVELD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.499 MARVELD2 Zornitza Stark reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186462, 18084694, 22903915, 27344577, 26677943, 23979167; Phenotypes: Deafness, autosomal recessive 49, MIM# 610153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.499 LRTOMT Zornitza Stark Marked gene: LRTOMT as ready
Deafness_IsolatedAndComplex v0.499 LRTOMT Zornitza Stark Gene: lrtomt has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.499 LRTOMT Zornitza Stark Phenotypes for gene: LRTOMT were changed from to Deafness, autosomal recessive 63, MIM# 611451
Deafness_IsolatedAndComplex v0.498 LRTOMT Zornitza Stark Publications for gene: LRTOMT were set to
Deafness_IsolatedAndComplex v0.497 LRTOMT Zornitza Stark Mode of inheritance for gene: LRTOMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.496 LRTOMT Zornitza Stark reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953341, 18794526, 21739586, 18794526; Phenotypes: Deafness, autosomal recessive 63, MIM# 611451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.496 LHFPL5 Zornitza Stark Marked gene: LHFPL5 as ready
Deafness_IsolatedAndComplex v0.496 LHFPL5 Zornitza Stark Gene: lhfpl5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.496 LHFPL5 Zornitza Stark Phenotypes for gene: LHFPL5 were changed from to Deafness, autosomal recessive 67, MIM# 610265
Deafness_IsolatedAndComplex v0.495 LHFPL5 Zornitza Stark Publications for gene: LHFPL5 were set to
Deafness_IsolatedAndComplex v0.494 LHFPL5 Zornitza Stark Mode of inheritance for gene: LHFPL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.493 LHFPL5 Zornitza Stark reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16459341, 16752389, 21816241, 19888295, 26437881, 26029705, 15905332, 19102128, 25550511; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.493 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Deafness_IsolatedAndComplex v0.493 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.493 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Jervell and Lange-Nielsen syndrome, MIM# 220400
Deafness_IsolatedAndComplex v0.492 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.491 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome, MIM# 220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.491 ILDR1 Zornitza Stark Marked gene: ILDR1 as ready
Deafness_IsolatedAndComplex v0.491 ILDR1 Zornitza Stark Gene: ildr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.491 ILDR1 Zornitza Stark Phenotypes for gene: ILDR1 were changed from to Deafness, autosomal recessive 42, MIM# 609646
Deafness_IsolatedAndComplex v0.490 ILDR1 Zornitza Stark Publications for gene: ILDR1 were set to
Deafness_IsolatedAndComplex v0.489 ILDR1 Zornitza Stark Mode of inheritance for gene: ILDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.488 ILDR1 Zornitza Stark reviewed gene: ILDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21255762, 23226338, 22903915, 27344577, 21255762, 23239027, 25822906, 25819842, 24990150; Phenotypes: Deafness, autosomal recessive 42, MIM# 609646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.488 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Deafness_IsolatedAndComplex v0.488 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.488 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from to Perrault syndrome 1, MIM# 233400
Deafness_IsolatedAndComplex v0.487 HSD17B4 Zornitza Stark Publications for gene: HSD17B4 were set to
Deafness_IsolatedAndComplex v0.486 HSD17B4 Zornitza Stark Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.485 HSD17B4 Zornitza Stark reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24553428, 23181892, 20673864; Phenotypes: Perrault syndrome 1, MIM# 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.485 HOXA2 Zornitza Stark edited their review of gene: HOXA2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.485 HOXA2 Zornitza Stark Marked gene: HOXA2 as ready
Deafness_IsolatedAndComplex v0.485 HOXA2 Zornitza Stark Gene: hoxa2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.485 HOXA2 Zornitza Stark Phenotypes for gene: HOXA2 were changed from to Microtia with or without hearing impairment, MIM# 612290
Deafness_IsolatedAndComplex v0.484 HOXA2 Zornitza Stark Publications for gene: HOXA2 were set to
Deafness_IsolatedAndComplex v0.483 HOXA2 Zornitza Stark Mode of inheritance for gene: HOXA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.482 HOXA2 Zornitza Stark reviewed gene: HOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394579, 23775976, 27503514, 32649979, 31567444; Phenotypes: Microtia with or without hearing impairment, MIM# 612290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.482 GRXCR1 Zornitza Stark Marked gene: GRXCR1 as ready
Deafness_IsolatedAndComplex v0.482 GRXCR1 Zornitza Stark Gene: grxcr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.482 GRXCR1 Zornitza Stark Phenotypes for gene: GRXCR1 were changed from to Deafness, autosomal recessive 25, MIM# 613285
Deafness_IsolatedAndComplex v0.481 GRXCR1 Zornitza Stark Publications for gene: GRXCR1 were set to
Deafness_IsolatedAndComplex v0.480 GRXCR1 Zornitza Stark Mode of inheritance for gene: GRXCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.479 GRXCR1 Zornitza Stark reviewed gene: GRXCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137778, 25802247, 26226137, 26445815, 26969326, 20137774; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.479 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Deafness_IsolatedAndComplex v0.479 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.479 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM# 604213
Deafness_IsolatedAndComplex v0.478 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Deafness_IsolatedAndComplex v0.477 GPSM2 Zornitza Stark Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.476 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome, MIM# 604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.476 GIPC3 Zornitza Stark Marked gene: GIPC3 as ready
Deafness_IsolatedAndComplex v0.476 GIPC3 Zornitza Stark Gene: gipc3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.476 GIPC3 Zornitza Stark Phenotypes for gene: GIPC3 were changed from to Deafness, autosomal recessive 15, MIM# 601869
Deafness_IsolatedAndComplex v0.475 GIPC3 Zornitza Stark Publications for gene: GIPC3 were set to
Deafness_IsolatedAndComplex v0.474 GIPC3 Zornitza Stark Mode of inheritance for gene: GIPC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.473 GIPC3 Zornitza Stark reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21326233, 21660509; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.473 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094Deafness, autosomal recessive 110, MIM# 618094 to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
Deafness_IsolatedAndComplex v0.472 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369 to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094Deafness, autosomal recessive 110, MIM# 618094
Deafness_IsolatedAndComplex v0.471 COCH Zornitza Stark Publications for gene: COCH were set to 16151338; 28116169; 28099493; 9806553; 17561763; 21046548; 26256111; 22931125; 22610276; 18312449; 28733840; 18697796; 29449721
Deafness_IsolatedAndComplex v0.470 COCH Zornitza Stark changed review comment from: Over 50 affected individuals from more than 10 families reported, mouse model. Single family with two siblings reported with bi-allelic variants in this gene and deafness (homozygous LOF) in PMID 29449721, evidence for bi-allelic disease is limited.; to: Mono-allelic variants: Over 50 affected individuals from more than 10 families reported, mouse model. Dominant negative effect postulated.

Bi-allelic variants: three families reported with bi-allelic variants in this gene and deafness. All variants are LOF, some functional data. PMIDs 29449721, 32939038, 32562050.
Deafness_IsolatedAndComplex v0.470 COCH Zornitza Stark edited their review of gene: COCH: Changed publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721, 32939038, 32562050
Deafness_IsolatedAndComplex v0.470 COCH Zornitza Stark edited their review of gene: COCH: Changed phenotypes: Deafness, autosomal dominant 9, MIM# 601369, Deafness, autosomal recessive 110, MIM# 618094
Deafness_IsolatedAndComplex v0.470 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Deafness_IsolatedAndComplex v0.470 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.470 GATA3 Zornitza Stark Phenotypes for gene: GATA3 were changed from to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Deafness_IsolatedAndComplex v0.469 GATA3 Zornitza Stark Publications for gene: GATA3 were set to
Deafness_IsolatedAndComplex v0.468 GATA3 Zornitza Stark Mode of inheritance for gene: GATA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.467 GATA3 Zornitza Stark reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.467 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Deafness_IsolatedAndComplex v0.467 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.467 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706
Deafness_IsolatedAndComplex v0.466 FGF3 Zornitza Stark Publications for gene: FGF3 were set to
Deafness_IsolatedAndComplex v0.465 FGF3 Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.464 FGF3 Zornitza Stark reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.464 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Deafness_IsolatedAndComplex v0.464 EYA4 Zornitza Stark Gene: eya4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.464 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from to Deafness, autosomal dominant 10, MIM# 601316
Deafness_IsolatedAndComplex v0.463 EYA4 Zornitza Stark Publications for gene: EYA4 were set to
Deafness_IsolatedAndComplex v0.462 EYA4 Zornitza Stark Mode of inheritance for gene: EYA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.461 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159937, ​17568404, 25681523, 25963406, 25242383, 26331839, 18219393, 27545760, 15735644; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.461 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Deafness_IsolatedAndComplex v0.461 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.461 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from to Branchiootic syndrome 1, MIM# 602588
Deafness_IsolatedAndComplex v0.460 EYA1 Zornitza Stark Mode of inheritance for gene: EYA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.459 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 1, MIM# 602588; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.459 ESPN Zornitza Stark Marked gene: ESPN as ready
Deafness_IsolatedAndComplex v0.459 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.459 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_IsolatedAndComplex v0.458 ESPN Zornitza Stark Publications for gene: ESPN were set to
Deafness_IsolatedAndComplex v0.457 ESPN Zornitza Stark Mode of inheritance for gene: ESPN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.456 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006, Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.456 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Deafness_IsolatedAndComplex v0.456 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.456 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Deafness_IsolatedAndComplex v0.455 DIAPH1 Zornitza Stark Publications for gene: DIAPH1 were set to
Deafness_IsolatedAndComplex v0.454 DIAPH1 Zornitza Stark Mode of pathogenicity for gene: DIAPH1 was changed from to None
Deafness_IsolatedAndComplex v0.453 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.452 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
Deafness_IsolatedAndComplex v0.452 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.452 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from to Deafness, autosomal recessive 59, MIM# 610220
Deafness_IsolatedAndComplex v0.451 DFNB59 Zornitza Stark Publications for gene: DFNB59 were set to
Deafness_IsolatedAndComplex v0.450 DFNB59 Zornitza Stark Mode of inheritance for gene: DFNB59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.449 DFNB59 Zornitza Stark changed review comment from: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.; to: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.

New HGNC name is PJVK.
Deafness_IsolatedAndComplex v0.449 DFNB59 Zornitza Stark reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: 16804542, 26166082, 22617256, 28964305, 17373699, 25631766, 28209736; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.449 DFNB59 Zornitza Stark Tag new gene name tag was added to gene: DFNB59.
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is GSDME
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.449 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from to Deafness, autosomal dominant 5, MIM# 600994
Deafness_IsolatedAndComplex v0.448 DFNA5 Zornitza Stark Publications for gene: DFNA5 were set to
Deafness_IsolatedAndComplex v0.447 DFNA5 Zornitza Stark Mode of inheritance for gene: DFNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.446 DFNA5 Zornitza Stark Tag new gene name tag was added to gene: DFNA5.
Deafness_IsolatedAndComplex v0.446 DFNA5 Zornitza Stark reviewed gene: DFNA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771715, 14676472, ​14559215, 24933359, 17868390, 24506266, 12853124, 14736743, 22848872; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.446 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Deafness_IsolatedAndComplex v0.446 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.446 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from to Stickler syndrome
Deafness_IsolatedAndComplex v0.445 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to
Deafness_IsolatedAndComplex v0.444 COL9A3 Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.443 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450842, 31090205, 24273071; Phenotypes: Stickler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.443 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Deafness_IsolatedAndComplex v0.443 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.443 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V, MIM# 614284
Deafness_IsolatedAndComplex v0.442 COL9A2 Zornitza Stark Publications for gene: COL9A2 were set to
Deafness_IsolatedAndComplex v0.441 COL9A2 Zornitza Stark Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.440 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31090205, 21671392, 20686772, 27666725, 15802199, 15710493; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.440 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Deafness_IsolatedAndComplex v0.440 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.440 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from to Alport syndrome 1, X-linked, MIM# 301050
Deafness_IsolatedAndComplex v0.439 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.438 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.438 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Deafness_IsolatedAndComplex v0.438 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.438 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from to Deafness, autosomal dominant 13, MIM# 601868; Deafness, autosomal recessive 53, MIM# 609706; Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Deafness_IsolatedAndComplex v0.437 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to 10581026; 25633957; 16033917
Deafness_IsolatedAndComplex v0.437 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Deafness_IsolatedAndComplex v0.436 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.435 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917; Phenotypes: Deafness, autosomal dominant 13, MIM# 601868, Deafness, autosomal recessive 53, MIM# 609706, Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.435 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Deafness_IsolatedAndComplex v0.435 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.435 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Stickler syndrome, type II, MIM# 604841; Marshall syndrome, MIM# 154780
Deafness_IsolatedAndComplex v0.434 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.433 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841, Marshall syndrome, MIM# 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark Marked gene: COCH as ready
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark edited their review of gene: COCH: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.433 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.432 COCH Zornitza Stark Phenotypes for gene: COCH were changed from to Deafness, autosomal dominant 9, MIM# 601369
Deafness_IsolatedAndComplex v0.431 COCH Zornitza Stark Publications for gene: COCH were set to
Deafness_IsolatedAndComplex v0.430 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.429 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.429 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Deafness_IsolatedAndComplex v0.429 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.429 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from to Usher syndrome, type 3A, MIM# 276902
Deafness_IsolatedAndComplex v0.428 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to 11524702; 24596593; 22135276; 21675857; 19753315; 27110679; 26943149; 22787034
Deafness_IsolatedAndComplex v0.428 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Deafness_IsolatedAndComplex v0.427 CLRN1 Zornitza Stark Mode of inheritance for gene: CLRN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.426 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.426 CLPP Zornitza Stark Publications for gene: CLPP were set to 23541340; 27087618; 27899912; 25254289
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark edited their review of gene: CLPP: Changed publications: 23541340, 27087618, 27899912, 25254289, 23851121
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark changed review comment from: Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families reported.; to: Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families (11 probands) reported, mouse model.
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark Marked gene: CLPP as ready
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.425 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Deafness_IsolatedAndComplex v0.424 CLPP Zornitza Stark Publications for gene: CLPP were set to
Deafness_IsolatedAndComplex v0.423 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.422 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.422 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Deafness_IsolatedAndComplex v0.422 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.422 CIB2 Zornitza Stark Phenotypes for gene: CIB2 were changed from to Deafness, autosomal recessive 48, MIM# 609439
Deafness_IsolatedAndComplex v0.421 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Deafness_IsolatedAndComplex v0.421 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.421 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035
Deafness_IsolatedAndComplex v0.420 CLDN14 Zornitza Stark Publications for gene: CLDN14 were set to
Deafness_IsolatedAndComplex v0.419 CLDN14 Zornitza Stark Mode of inheritance for gene: CLDN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.418 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.418 CIB2 Zornitza Stark Publications for gene: CIB2 were set to
Deafness_IsolatedAndComplex v0.417 CIB2 Zornitza Stark Mode of inheritance for gene: CIB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.416 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.416 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Deafness_IsolatedAndComplex v0.416 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.416 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Deafness_IsolatedAndComplex v0.415 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.414 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.414 BSND Zornitza Stark Marked gene: BSND as ready
Deafness_IsolatedAndComplex v0.414 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.414 BSND Zornitza Stark Phenotypes for gene: BSND were changed from to Sensorineural deafness with mild renal dysfunction, MIM# 602522; Bartter syndrome, type 4a, MIM# 602522
Deafness_IsolatedAndComplex v0.413 BSND Zornitza Stark Publications for gene: BSND were set to
Deafness_IsolatedAndComplex v0.412 BSND Zornitza Stark Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.411 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646679; Phenotypes: Sensorineural deafness with mild renal dysfunction, MIM# 602522, Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.411 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Deafness_IsolatedAndComplex v0.411 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.411 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Deafness_IsolatedAndComplex v0.410 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Deafness_IsolatedAndComplex v0.409 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.408 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 24172246, 17314340; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.408 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Deafness_IsolatedAndComplex v0.408 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.408 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Deafness_IsolatedAndComplex v0.407 ATP6V1B1 Zornitza Stark Publications for gene: ATP6V1B1 were set to
Deafness_IsolatedAndComplex v0.406 ATP6V1B1 Zornitza Stark Mode of inheritance for gene: ATP6V1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.405 ATP6V1B1 Zornitza Stark reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916796, 12414817, 16611712, 18798332; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.405 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_IsolatedAndComplex v0.404 ATP2B2 Zornitza Stark reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535804, 15829536; Phenotypes: Dominant deafness, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.404 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Deafness_IsolatedAndComplex v0.404 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.404 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Deafness_IsolatedAndComplex v0.403 ALMS1 Zornitza Stark Publications for gene: ALMS1 were set to
Deafness_IsolatedAndComplex v0.402 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.401 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941369, 17594715; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.401 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Deafness_IsolatedAndComplex v0.401 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.401 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from to Usher syndrome, type 2C, MIM# 605472
Deafness_IsolatedAndComplex v0.400 ADGRV1 Zornitza Stark Publications for gene: ADGRV1 were set to
Deafness_IsolatedAndComplex v0.399 ADGRV1 Zornitza Stark Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.398 ADGRV1 Zornitza Stark reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22147658, 25572244, 14740321; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.398 LMX1A Bryony Thompson Publications for gene: LMX1A were set to 29754270; 29971487
Deafness_IsolatedAndComplex v0.397 LMX1A Bryony Thompson Classified gene: LMX1A as Green List (high evidence)
Deafness_IsolatedAndComplex v0.397 LMX1A Bryony Thompson Gene: lmx1a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.396 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_IsolatedAndComplex v0.396 ACTG1 Zornitza Stark Mode of pathogenicity for gene: ACTG1 was changed from to Other
Deafness_IsolatedAndComplex v0.395 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Deafness_IsolatedAndComplex v0.395 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.395 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Deafness, autosomal dominant 20/26, MIM# 604717
Deafness_IsolatedAndComplex v0.394 ACTG1 Zornitza Stark Publications for gene: ACTG1 were set to
Deafness_IsolatedAndComplex v0.393 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.392 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 13680526, 14684684, 16773128, 19477959, 19497859; Phenotypes: Deafness, autosomal dominant 20/26, MIM# 604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.392 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Deafness_IsolatedAndComplex v0.392 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.392 ABHD12 Zornitza Stark Phenotypes for gene: ABHD12 were changed from to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Deafness_IsolatedAndComplex v0.391 ABHD12 Zornitza Stark Publications for gene: ABHD12 were set to
Deafness_IsolatedAndComplex v0.390 ABHD12 Zornitza Stark Mode of inheritance for gene: ABHD12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.389 ABHD12 Zornitza Stark reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Classified gene: SLC19A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.388 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 10391221; 10978358
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Review for gene: SLC19A2 was set to GREEN
Added comment: Over 5 unrelated families reported, sensorineural deafness is part of the phenotype.
Sources: Expert Review
Deafness_IsolatedAndComplex v0.387 DMXL2 Zornitza Stark Phenotypes for gene: DMXL2 were changed from Autosomal dominant hearing loss; autosomal recessive EE with deafness to Autosomal dominant hearing loss; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness
Deafness_IsolatedAndComplex v0.386 DMXL2 Chern Lim reviewed gene: DMXL2: Rating: ; Mode of pathogenicity: None; Publications: 30732576, 27657680; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM#618663, Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Deafness_IsolatedAndComplex v0.386 COL9A1 Teresa Zhao Deleted their review
Deafness_IsolatedAndComplex v0.386 COL9A1 Teresa Zhao reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16909383, 2142186, 11565064; Phenotypes: Stickler syndrome, type IV (MIM#614134) AR, ?Multiple epiphyseal dysplasia 6 (MIM#614135) AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.386 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Deafness_IsolatedAndComplex v0.386 TIMM8A Zornitza Stark Gene: timm8a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.386 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome, MIM# 304700
Deafness_IsolatedAndComplex v0.385 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Deafness_IsolatedAndComplex v0.384 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_IsolatedAndComplex v0.383 TIMM8A Zornitza Stark reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816, 32820032; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.383 DIAPH1 Dean Phelan reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24781755, 27707755, 27808407, 28003573, 28815995; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia 124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.383 DNMT1 Zornitza Stark Marked gene: DNMT1 as ready
Deafness_IsolatedAndComplex v0.383 DNMT1 Zornitza Stark Gene: dnmt1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.383 DNMT1 Zornitza Stark Phenotypes for gene: DNMT1 were changed from to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116
Deafness_IsolatedAndComplex v0.382 DNMT1 Zornitza Stark Publications for gene: DNMT1 were set to
Deafness_IsolatedAndComplex v0.381 DNMT1 Zornitza Stark Mode of inheritance for gene: DNMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.380 DNMT1 Zornitza Stark reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22328086, 21532572, 31984424; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.380 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Deafness_IsolatedAndComplex v0.380 RIPOR2 Zornitza Stark Added comment: Comment when marking as ready: Insufficient evidence for Green rating for either MOI.
Deafness_IsolatedAndComplex v0.380 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.380 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_IsolatedAndComplex v0.379 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_IsolatedAndComplex v0.378 RIPOR2 Zornitza Stark Publications for gene: RIPOR2 were set to 24958875
Deafness_IsolatedAndComplex v0.377 RIPOR2 Zornitza Stark Tag founder tag was added to gene: RIPOR2.
Deafness_IsolatedAndComplex v0.377 RIPOR2 Zornitza Stark changed review comment from: Single family and animal model data.
Sources: Expert list; to: Single family with bi-allelic variants and animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.377 RIPOR2 Zornitza Stark edited their review of gene: RIPOR2: Added comment: PMID: 32631815 (2020) - A heterozygous 12 nucleotide in-frame deletion (c.1696_1707del, p.Gln566_Lys569del) in RIPOR2 was detected in 12 families of Dutch origin with non-syndromic hearing loss.

In total, the variant was detected in 59/63 affected participants, but also in five unaffected subjects from three family. Age of onset was highly variable, from congenital to 70 years (mean age: 30.6 years) - unaffected family members who harboured the variant were aged 23, 40, 49, 50, and 51 years, respectively. The authors speculate that the four affected subjects without the variant represent phenocopies. The presence of an identical variant in 12 families of common origin, as well as haplotype analysis, indicates a founder effect.

Functional analysis of the variant showed aberrant localisation of mutant-RIPOR2 in early postnatal mouse hair cells, ex vivo; and failure to rescue the stereocilia defects of Ripor2 knockout mice, in contrast to the rescue effect observed in cells expressing wild-type RIPOR2.; Changed publications: 24958875, 32631815; Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Deafness_IsolatedAndComplex v0.376 ESRRB Zornitza Stark Publications for gene: ESRRB were set to
Deafness_IsolatedAndComplex v0.375 ESRRB Zornitza Stark Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.374 ESRRB Zornitza Stark 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_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.373 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101
Deafness_IsolatedAndComplex v0.371 KCNQ4 Zornitza Stark Publications for gene: KCNQ4 were set to
Deafness_IsolatedAndComplex v0.370 KCNQ4 Zornitza Stark Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.369 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_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Deafness_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Classified gene: ACOX1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.368 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACOX1 were set to 32169171
Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960
Review for gene: ACOX1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder.
Sources: Expert list
Deafness_IsolatedAndComplex v0.367 Zornitza Stark Panel name changed from Deafness_ComplexAndIsolated to Deafness_IsolatedAndComplex
Deafness_IsolatedAndComplex v0.366 Zornitza Stark Panel name changed from Deafness to Deafness_ComplexAndIsolated
Deafness_IsolatedAndComplex v0.365 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Deafness_IsolatedAndComplex v0.365 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.365 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_IsolatedAndComplex v0.364 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Deafness_IsolatedAndComplex v0.363 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.362 SOX10 Crystle Lee reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 24845202; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness_IsolatedAndComplex v0.362 GGPS1 Zornitza Stark Marked gene: GGPS1 as ready
Deafness_IsolatedAndComplex v0.362 GGPS1 Zornitza Stark Gene: ggps1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.362 GGPS1 Zornitza Stark Classified gene: GGPS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.362 GGPS1 Zornitza Stark Gene: ggps1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.361 GGPS1 Zornitza Stark gene: GGPS1 was added
gene: GGPS1 was added to Deafness. Sources: Literature
Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGPS1 were set to 32403198
Phenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency
Review for gene: GGPS1 was set to GREEN
Added comment: 11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality.
Sources: Literature
Deafness_IsolatedAndComplex v0.360 PNPT1 Zornitza Stark edited their review of gene: PNPT1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.360 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.359 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to 23084290; 31752325
Deafness_IsolatedAndComplex v0.358 PNPT1 Zornitza Stark edited their review of gene: PNPT1: Changed rating: GREEN
Deafness_IsolatedAndComplex v0.358 PNPT1 Lilian Downie reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30244537; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.358 FOXI1 Lilian Downie commented on gene: FOXI1: Disputed evidence for enlarged vestibular aqueduct PMID: 19204907
Deafness_IsolatedAndComplex v0.358 DSPP Zornitza Stark Marked gene: DSPP as ready
Deafness_IsolatedAndComplex v0.358 DSPP Zornitza Stark Added comment: Comment when marking as ready: Three families altogether, two with the same variant, V18F. One with isolated deafness, two with dental phenotype as well as deafness. Some functional data to support impact on protein. Mouse model has dental phenotype.
Deafness_IsolatedAndComplex v0.358 DSPP Zornitza Stark Gene: dspp has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.358 DSPP Zornitza Stark Publications for gene: DSPP were set to 29741433
Deafness_IsolatedAndComplex v0.357 DSPP Zornitza Stark Phenotypes for gene: DSPP were changed from Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594 to Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594
Deafness_IsolatedAndComplex v0.356 DSPP Zornitza Stark Phenotypes for gene: DSPP were changed from to Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594
Deafness_IsolatedAndComplex v0.356 DSPP Zornitza Stark Publications for gene: DSPP were set to
Deafness_IsolatedAndComplex v0.355 DSPP Zornitza Stark Mode of inheritance for gene: DSPP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.354 DSPP Zornitza Stark Classified gene: DSPP as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.354 DSPP Zornitza Stark Gene: dspp has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.353 DSPP Lilian Downie reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29741433; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.353 CNRIP1 Zornitza Stark Marked gene: CNRIP1 as ready
Deafness_IsolatedAndComplex v0.353 CNRIP1 Zornitza Stark Gene: cnrip1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.353 CNRIP1 Zornitza Stark gene: CNRIP1 was added
gene: CNRIP1 was added to Deafness. Sources: Literature
Mode of inheritance for gene: CNRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNRIP1 were set to 32337552; 19159392
Phenotypes for gene: CNRIP1 were set to Deafness, autosomal dominant 58 MIM#615654
Review for gene: CNRIP1 was set to RED
Added comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members.
Sources: Literature
Deafness_IsolatedAndComplex v0.352 ABCC1 Zornitza Stark Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915 to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915
Deafness_IsolatedAndComplex v0.352 ABCC1 Zornitza Stark Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss (PMID: 31273342) to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915
Deafness_IsolatedAndComplex v0.351 ABCC1 Zornitza Stark edited their review of gene: ABCC1: Changed rating: AMBER; Changed phenotypes: Deafness-77, autosomal dominant (DFNA77), MIM#618915
Deafness_IsolatedAndComplex v0.351 FITM2 Bryony Thompson Marked gene: FITM2 as ready
Deafness_IsolatedAndComplex v0.351 FITM2 Bryony Thompson Gene: fitm2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.351 FITM2 Bryony Thompson Classified gene: FITM2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.351 FITM2 Bryony Thompson Gene: fitm2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.350 FITM2 Bryony Thompson gene: FITM2 was added
gene: FITM2 was added to Deafness. Sources: Literature
Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FITM2 were set to 28067622; 30214770; 30288795
Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness
Review for gene: FITM2 was set to GREEN
Added comment: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model.
Sources: Literature
Deafness_IsolatedAndComplex v0.349 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation to Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay
Deafness_IsolatedAndComplex v0.348 SLC12A2 Zornitza Stark Publications for gene: SLC12A2 were set to 30740830
Deafness_IsolatedAndComplex v0.347 SLC12A2 Zornitza Stark Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.346 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.346 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.345 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.345 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.344 SLC12A2 Ee Ming Wong reviewed gene: SLC12A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32294086; Phenotypes: Congenital, severe to profound hearing loss, minor motor developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.344 TSPEAR Zornitza Stark Tag disputed tag was added to gene: TSPEAR.
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark Marked gene: TBL1Y as ready
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark gene: TBL1Y was added
gene: TBL1Y was added to Deafness. Sources: Literature
Mode of inheritance for gene: TBL1Y was set to Other
Publications for gene: TBL1Y were set to 30341416
Phenotypes for gene: TBL1Y were set to Hearing loss
Review for gene: TBL1Y was set to RED
Added comment: Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Marked gene: FOXF2 as ready
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Classified gene: FOXF2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.342 FOXF2 Zornitza Stark gene: FOXF2 was added
gene: FOXF2 was added to Deafness. Sources: Literature
Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXF2 were set to 30561639; 22022403
Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea
Review for gene: FOXF2 was set to AMBER
Added comment: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Sources: Literature
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Marked gene: ABCC1 as ready
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Added comment: Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants.
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.339 ABCC1 Crystle Lee gene: ABCC1 was added
gene: ABCC1 was added to Deafness. Sources: Expert Review
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss (PMID: 31273342)
Review for gene: ABCC1 was set to GREEN
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected)

PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual
ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD.
Sources: Expert Review
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Mode of inheritance for gene: POLD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.338 POLD1 Zornitza Stark Classified gene: POLD1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.338 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.337 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Deafness. Sources: Literature
Mode of inheritance for gene: POLD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness
Review for gene: POLD1 was set to GREEN
Added comment: Established gene-disease association for mono-allelic variants with syndromic condition MIM#615381, which has deafness as a feature. Recent report of 5 individuals from a single family segregating bi-allelic variants in this gene and non-syndromic deafness. Please note association with non-syndromic deafness does not currently meet evidence threshold for Green rating.
Sources: Literature
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Marked gene: TECTA as ready
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Deafness_IsolatedAndComplex v0.335 TECTA Zornitza Stark Publications for gene: TECTA were set to
Deafness_IsolatedAndComplex v0.334 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.333 TECTA Zornitza Stark reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.332 SLC9A1 Zornitza Stark gene: SLC9A1 was added
gene: SLC9A1 was added to Deafness. Sources: Expert list
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291
Review for gene: SLC9A1 was set to AMBER
Added comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Deafness_IsolatedAndComplex v0.331 HAAO Zornitza Stark edited their review of gene: HAAO: Changed rating: GREEN; Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.330 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Deafness. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.328 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Deafness. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 31129566
Phenotypes for gene: PLOD3 were set to Sensorineural deafness
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: This gene has a complex phenotype that includes features of a connective tissue disorder; 3/5 described unrelated families have sensorineural deafness as a feature (PMID as above plus an abstract from 2013 ESHG by Steichen-Gersdorf et al). At least one proband has required cochlear implantation.
Sources: Literature
Deafness_IsolatedAndComplex v0.328 CDC14A Lilian Downie commented on gene: CDC14A
Deafness_IsolatedAndComplex v0.328 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Deafness_IsolatedAndComplex v0.328 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.328 LOXHD1 Zornitza Stark Phenotypes for gene: LOXHD1 were changed from to Deafness, autosomal recessive 77, MIM# 613079
Deafness_IsolatedAndComplex v0.327 LOXHD1 Zornitza Stark Publications for gene: LOXHD1 were set to
Deafness_IsolatedAndComplex v0.326 LOXHD1 Zornitza Stark Mode of inheritance for gene: LOXHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.325 LOXHD1 Melanie Marty edited their review of gene: LOXHD1: Changed publications: 19732867, 25792669
Deafness_IsolatedAndComplex v0.325 LOXHD1 Melanie Marty reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732867; Phenotypes: Deafness, autosomal recessive 77 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.325 TMPRSS3 Zornitza Stark Marked gene: TMPRSS3 as ready
Deafness_IsolatedAndComplex v0.325 TMPRSS3 Zornitza Stark Gene: tmprss3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.325 TMPRSS3 Zornitza Stark Phenotypes for gene: TMPRSS3 were changed from to Deafness, autosomal recessive 8/10, MIM#601072
Deafness_IsolatedAndComplex v0.324 TMPRSS3 Zornitza Stark Publications for gene: TMPRSS3 were set to
Deafness_IsolatedAndComplex v0.323 TMPRSS3 Zornitza Stark Mode of inheritance for gene: TMPRSS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.322 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Deafness_IsolatedAndComplex v0.322 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.322 GJB2 Zornitza Stark Phenotypes for gene: GJB2 were changed from to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Deafness_IsolatedAndComplex v0.321 GJB2 Zornitza Stark Publications for gene: GJB2 were set to
Deafness_IsolatedAndComplex v0.320 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.319 POU3F4 Zornitza Stark Marked gene: POU3F4 as ready
Deafness_IsolatedAndComplex v0.319 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.319 POU3F4 Zornitza Stark Phenotypes for gene: POU3F4 were changed from to Deafness, X-linked 2, MIM# 304400
Deafness_IsolatedAndComplex v0.318 POU3F4 Zornitza Stark Publications for gene: POU3F4 were set to
Deafness_IsolatedAndComplex v0.317 POU3F4 Zornitza Stark Mode of inheritance for gene: POU3F4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.316 POU3F4 Zornitza Stark reviewed gene: POU3F4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31786483, 30176854; Phenotypes: Deafness, X-linked 2, MIM# 304400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.316 OTOF Zornitza Stark Marked gene: OTOF as ready
Deafness_IsolatedAndComplex v0.316 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.316 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071
Deafness_IsolatedAndComplex v0.315 OTOF Zornitza Stark Publications for gene: OTOF were set to
Deafness_IsolatedAndComplex v0.314 OTOF Zornitza Stark Mode of inheritance for gene: OTOF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.313 TMPRSS3 Chern Lim reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21786053, 17551081; Phenotypes: Deafness, autosomal recessive 8/10, MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.313 GJB2 Chern Lim reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9529365, 14985372, 19941053, 11354642; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.313 OTOF Ain Roesley reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: 16371502, 22906306; Phenotypes: Auditory neuropathy, autosomal recessive, 1 (MIM # 601071), Deafness, autosomal recessive 9 (MIM # 601071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.313 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Deafness_IsolatedAndComplex v0.313 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.313 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)
Deafness_IsolatedAndComplex v0.312 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
Deafness_IsolatedAndComplex v0.311 CDH23 Zornitza Stark Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.310 CDH23 Zornitza Stark reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.309 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Deafness_IsolatedAndComplex v0.308 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to 23543054; 29551497
Deafness_IsolatedAndComplex v0.307 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to 23543054
Deafness_IsolatedAndComplex v0.306 SLITRK6 Zornitza Stark reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29551497; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, MIM# 257920 to 3MC syndrome 1, MIM# 257920
Deafness_IsolatedAndComplex v0.305 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from to 3MC syndrome 1, MIM# 257920
Deafness_IsolatedAndComplex v0.305 MASP1 Zornitza Stark Mode of inheritance for gene: MASP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Marked gene: P2RX2 as ready
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to
Deafness_IsolatedAndComplex v0.303 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Deafness_IsolatedAndComplex v0.303 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.303 P2RX2 Zornitza Stark Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224
Deafness_IsolatedAndComplex v0.302 P2RX2 Zornitza Stark Mode of pathogenicity for gene: P2RX2 was changed from to Other
Deafness_IsolatedAndComplex v0.302 P2RX2 Zornitza Stark Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.301 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM# 615560
Deafness_IsolatedAndComplex v0.300 PAX1 Zornitza Stark Publications for gene: PAX1 were set to
Deafness_IsolatedAndComplex v0.299 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Deafness_IsolatedAndComplex v0.299 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.299 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Deafness_IsolatedAndComplex v0.299 PAX2 Zornitza Stark Gene: pax2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.299 PAX1 Zornitza Stark Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.298 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330
Deafness_IsolatedAndComplex v0.298 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Deafness_IsolatedAndComplex v0.297 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.296 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Deafness_IsolatedAndComplex v0.295 PAX2 Zornitza Stark Classified gene: PAX2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.295 PAX2 Zornitza Stark Gene: pax2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.294 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM#610896
Deafness_IsolatedAndComplex v0.294 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.293 SIX5 Zornitza Stark Classified gene: SIX5 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.293 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.293 SLC17A8 Zornitza Stark Marked gene: SLC17A8 as ready
Deafness_IsolatedAndComplex v0.293 SLC17A8 Zornitza Stark Gene: slc17a8 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Marked gene: SLITRK6 as ready
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Phenotypes for gene: SLITRK6 were changed from to deafness and myopia, MIM#221200
Deafness_IsolatedAndComplex v0.292 SLC17A8 Zornitza Stark Publications for gene: SLC17A8 were set to
Deafness_IsolatedAndComplex v0.292 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to
Deafness_IsolatedAndComplex v0.292 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.291 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.290 SLC17A8 Zornitza Stark Phenotypes for gene: SLC17A8 were changed from to Deafness, autosomal dominant 25, MIM#605583
Deafness_IsolatedAndComplex v0.289 SLC17A8 Zornitza Stark Mode of inheritance for gene: SLC17A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Gene: traf7 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900 to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900
Deafness_IsolatedAndComplex v0.286 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900
Deafness_IsolatedAndComplex v0.286 SOX2 Zornitza Stark Publications for gene: SOX2 were set to 30262714; 16932809; 16145681
Deafness_IsolatedAndComplex v0.285 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Deafness_IsolatedAndComplex v0.284 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.283 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Deafness_IsolatedAndComplex v0.282 SOX2 Zornitza Stark Classified gene: SOX2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.282 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Classified gene: TRAF7 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Gene: traf7 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to 29198720
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to
Deafness_IsolatedAndComplex v0.278 TUBB4B Zornitza Stark Mode of inheritance for gene: TUBB4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Marked gene: FDXR as ready
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Deafness_IsolatedAndComplex v0.276 FDXR Zornitza Stark Publications for gene: FDXR were set to
Deafness_IsolatedAndComplex v0.275 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.274 FDXR Zornitza Stark reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965846; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM#614134
Deafness_IsolatedAndComplex v0.273 COL9A1 Zornitza Stark Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.272 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Stickler syndrome, type I, MIM108300
Deafness_IsolatedAndComplex v0.271 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to
Deafness_IsolatedAndComplex v0.270 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Deafness_IsolatedAndComplex v0.270 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.270 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.269 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408751; Phenotypes: Stickler syndrome, type I, MIM108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.269 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to DOORS syndrome, MIM#220500; Deafness, autosomal dominant 65, MIM#616044; Deafness , autosomal recessive 86, MIM#614617
Deafness_IsolatedAndComplex v0.268 CD151 Zornitza Stark Classified gene: CD151 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.268 CD151 Zornitza Stark Gene: cd151 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.267 CD151 Zornitza Stark edited their review of gene: CD151: Added comment: Deafness not reported in the third family, downgrade to Amber.; Changed rating: AMBER
Deafness_IsolatedAndComplex v0.267 SPTBN4 Zornitza Stark Publications for gene: SPTBN4 were set to 29861105; 28540413
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Marked gene: SPTBN4 as ready
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Gene: sptbn4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Publications for gene: SPTBN4 were set to
Deafness_IsolatedAndComplex v0.265 TUBB4B Lilian Downie reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198720; Phenotypes: Leber congenital amaurosis with early-onset deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.265 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Deafness_IsolatedAndComplex v0.265 SYNE4 Zornitza Stark Marked gene: SYNE4 as ready
Deafness_IsolatedAndComplex v0.265 SYNE4 Zornitza Stark Gene: syne4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.265 SPTBN4 Zornitza Stark Phenotypes for gene: SPTBN4 were changed from to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519
Deafness_IsolatedAndComplex v0.264 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.263 SNAI2 Zornitza Stark Marked gene: SNAI2 as ready
Deafness_IsolatedAndComplex v0.263 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.263 TRAF7 Lilian Downie reviewed gene: TRAF7: Rating: RED; Mode of pathogenicity: None; Publications: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.263 TBC1D24 Zornitza Stark reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 24729539, 24729547, 24387994, 24291220; Phenotypes: DOORS syndrome, MIM#220500, Deafness, autosomal dominant 65, MIM#616044, Deafness , autosomal recessive 86, MIM#614617; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.263 SYNE4 Zornitza Stark Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540
Deafness_IsolatedAndComplex v0.262 SYNE4 Zornitza Stark Publications for gene: SYNE4 were set to
Deafness_IsolatedAndComplex v0.262 SOX2 Lilian Downie reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30262714, 16932809, 16145681; Phenotypes: Anopthalmia and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.262 SNAI2 Zornitza Stark Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890
Deafness_IsolatedAndComplex v0.262 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Deafness_IsolatedAndComplex v0.262 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.262 SYNE4 Zornitza Stark Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.261 SYNE4 Zornitza Stark reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.261 SLC4A11 Zornitza Stark Phenotypes for gene: SLC4A11 were changed from to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
Deafness_IsolatedAndComplex v0.260 SNAI2 Zornitza Stark Publications for gene: SNAI2 were set to
Deafness_IsolatedAndComplex v0.260 SPTBN4 Zornitza Stark Mode of inheritance for gene: SPTBN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.259 SPTBN4 Zornitza Stark reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861105, 28540413; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.259 SNAI2 Zornitza Stark Mode of inheritance for gene: SNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.258 SLC4A11 Zornitza Stark Mode of inheritance for gene: SLC4A11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.258 SERPINB6 Zornitza Stark Marked gene: SERPINB6 as ready
Deafness_IsolatedAndComplex v0.258 SERPINB6 Zornitza Stark Gene: serpinb6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.258 SNAI2 Zornitza Stark Classified gene: SNAI2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.258 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.257 SNAI2 Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.257 SLC4A11 Zornitza Stark Publications for gene: SLC4A11 were set to
Deafness_IsolatedAndComplex v0.257 SERPINB6 Zornitza Stark Phenotypes for gene: SERPINB6 were changed from to Deafness, autosomal recessive 91, MIM# 613453
Deafness_IsolatedAndComplex v0.256 SLITRK6 Lilian Downie reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23543054; Phenotypes: deafness and myopia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.256 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220209; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.256 SLC17A8 Lilian Downie reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674745, 26797701, 28647561; Phenotypes: Non syndrome hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.256 SERPINB6 Zornitza Stark Publications for gene: SERPINB6 were set to
Deafness_IsolatedAndComplex v0.255 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Deafness_IsolatedAndComplex v0.255 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.255 SERPINB6 Zornitza Stark Mode of inheritance for gene: SERPINB6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.254 SERPINB6 Zornitza Stark reviewed gene: SERPINB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451170, 25719458, 23669344; Phenotypes: Deafness, autosomal recessive 91, MIM# 613453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.254 SIX5 Lilian Downie reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: branchio-oto-renal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.253 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.253 PAX2 Lilian Downie reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16971658, 8588587; Phenotypes: Papillorenal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease, type 1E 118300 to Charcot-Marie-Tooth disease, type 1E 118300
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Gene: pmp22 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Gene: sall1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480
Deafness_IsolatedAndComplex v0.253 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.252 SALL4 Zornitza Stark reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.252 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Deafness_IsolatedAndComplex v0.251 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.250 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.250 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934 to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Deafness_IsolatedAndComplex v0.249 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1E 118300
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Added comment: Comment when marking as ready: Evidence for gene-disease association rated as LIMITED by ClinGen. However, note deafness is also a feature of the multi-system, Leigh-like disorder caused by bi-allelic PNPT1 variants and therefore rated as Green.
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Deafness_IsolatedAndComplex v0.248 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.248 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Classified gene: PNPT1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Classified gene: PNPT1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.246 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: None; Publications: 23084290, 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932, Deafness, autosomal recessive 70, MIM#614934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.246 PMP22 Zornitza Stark Classified gene: PMP22 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.246 PMP22 Zornitza Stark Gene: pmp22 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
Deafness_IsolatedAndComplex v0.245 PMP22 Zornitza Stark reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: None; Publications: 8355122, 10330345, 12578939; Phenotypes: Charcot-Marie-Tooth disease, type 1E 118300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.245 PAX1 Lilian Downie reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23851939, 29681087; Phenotypes: otofaciocervical syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.245 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Deafness_IsolatedAndComplex v0.244 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Deafness_IsolatedAndComplex v0.244 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.244 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.243 PBX1 Zornitza Stark reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.243 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Optic atrophy plus syndrome, MIM# 125250
Deafness_IsolatedAndComplex v0.242 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.241 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.241 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from Deafness, autosomal dominant 67, MIM# 616340 to Deafness, autosomal dominant 67, MIM# 616340
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Marked gene: OSBPL2 as ready
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67, MIM# 616340
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.239 P2RX2 Lilian Downie reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23345450, 24211385; Phenotypes: autosomal dominant deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.239 OSBPL2 Zornitza Stark Publications for gene: OSBPL2 were set to
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Classified gene: NR2F1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.238 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 19353646, 24462372; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.238 OSBPL2 Zornitza Stark Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.237 OSBPL2 Zornitza Stark reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67, MIM# 616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.237 MASP1 Lilian Downie reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.236 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.236 LHX3 Zornitza Stark Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.235 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Gene: myo3a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.234 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.233 MYO3A Zornitza Stark Publications for gene: MYO3A were set to
Deafness_IsolatedAndComplex v0.232 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Marked gene: GRAP as ready
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.231 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Deafness_IsolatedAndComplex v0.230 Zornitza Stark Panel name changed from Deafness_MelbourneGenomics_VCGS to Deafness
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Marked gene: OTOG as ready
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Publications for gene: OTOG were set to
Deafness_IsolatedAndComplex v0.228 OTOG Zornitza Stark Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B, MIM#614945
Deafness_IsolatedAndComplex v0.227 OTOG Zornitza Stark Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim Deleted their review
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 29800624; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Marked gene: ATP2B2 as ready
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Classified gene: ATP2B2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.225 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
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 progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to Incomplete
Review for gene: ATP2B2 was set to GREEN
Added comment: onset in first decade
LOF
Sources: Literature
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Marked gene: TSPEAR as ready
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Gene: tspear has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from Deafness, autosomal recessive 98, MIM#614861 to Deafness, autosomal recessive 98, MIM#614861
Deafness_IsolatedAndComplex v0.221 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from to Deafness, autosomal recessive 98, MIM#614861
Deafness_IsolatedAndComplex v0.220 TSPEAR Zornitza Stark Publications for gene: TSPEAR were set to
Deafness_IsolatedAndComplex v0.220 TSPEAR Zornitza Stark Mode of inheritance for gene: TSPEAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.219 TSPEAR Zornitza Stark Classified gene: TSPEAR as Red List (low evidence)
Deafness_IsolatedAndComplex v0.219 TSPEAR Zornitza Stark Gene: tspear has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.218 TSPEAR Zornitza Stark reviewed gene: TSPEAR: Rating: RED; Mode of pathogenicity: None; Publications: 22678063, 26969326; Phenotypes: Deafness, autosomal recessive 98, MIM#614861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Marked gene: TNC as ready
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Phenotypes for gene: TNC were changed from to Deafness, autosomal dominant 56, MIM# 615629
Deafness_IsolatedAndComplex v0.217 TNC Zornitza Stark Publications for gene: TNC were set to
Deafness_IsolatedAndComplex v0.216 TNC Zornitza Stark Mode of inheritance for gene: TNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.215 TNC Zornitza Stark Classified gene: TNC as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.215 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.214 TNC Zornitza Stark reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 23936043; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Gene: tjp2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from Deafness to Deafness
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Publications for gene: TJP2 were set to 24752540; 20602916; 18616530
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Deafness
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.212 TJP2 Zornitza Stark Classified gene: TJP2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.212 TJP2 Zornitza Stark Gene: tjp2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.211 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: RED; Mode of pathogenicity: None; Publications: 24752540, 20602916, 18616530; Phenotypes: Deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Deleted their comment
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Marked gene: MPZL2 as ready
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Publications for gene: MPZL2 were set to
Deafness_IsolatedAndComplex v0.207 MPZL2 Zornitza Stark Phenotypes for gene: MPZL2 were changed from to Deafness, autosomal recessive 111, MIM#618145
Deafness_IsolatedAndComplex v0.206 MPZL2 Zornitza Stark Mode of inheritance for gene: MPZL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.205 MPZL2 Zornitza Stark reviewed gene: MPZL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982980, 29961571; Phenotypes: Deafness, autosomal recessive 111, MIM#618145; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Marked gene: LMX1A as ready
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Added comment: Comment when marking as ready: Two families with mono-allelic variants and dominant pattern of deafness, one family with bi-allelic variants. Mouse model.
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Phenotypes for gene: LMX1A were changed from to Deafness, autosomal recessive and autosomal dominant
Deafness_IsolatedAndComplex v0.204 LMX1A Zornitza Stark Publications for gene: LMX1A were set to
Deafness_IsolatedAndComplex v0.203 LMX1A Zornitza Stark Mode of inheritance for gene: LMX1A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.202 LMX1A Zornitza Stark Classified gene: LMX1A as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.202 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Mode of inheritance for gene: LMX1A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Classified gene: LMX1A as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.200 LMX1A Zornitza Stark reviewed gene: LMX1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29971487; Phenotypes: Deafness, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Marked gene: HGF as ready
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Added comment: Comment when marking as ready: Note founder variants are synonymous (S165S) or deep intronic, c.482+1986_1988, c.482+1991_2000del
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Publications for gene: HGF were set to
Deafness_IsolatedAndComplex v0.199 GJB6 Zornitza Stark Classified gene: GJB6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.199 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Deafness, autosomal recessive and autosomal dominant
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Classified gene: GJB6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.197 GJB6 Zornitza Stark reviewed gene: GJB6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive and autosomal dominant; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Classified gene: GJB4 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.196 GJB4 Zornitza Stark reviewed gene: GJB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Gene: gjb1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Deafness_IsolatedAndComplex v0.195 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from Unknown to Other
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Classified gene: GJB1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Gene: gjb1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.193 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other
Deafness_IsolatedAndComplex v0.193 FOXI1 Zornitza Stark Added comment: Comment on publications: Another six individuals reported in 17503324, though in one digenic inheritance was suggested.
Deafness_IsolatedAndComplex v0.193 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Added comment: Comment when marking as ready: Additional family identified (PMID 27658576), promoted to Amber. Same variant.
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to 23441200; 20624953
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Added comment: Comment when marking as ready: Additional publication identified, promoted to Amber.
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Publications for gene: DIABLO were set to 21722859; 10929711
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Classified gene: DIABLO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Classified gene: DIABLO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Added comment: Comment when marking as ready: Additional family identified, classification changed to Green.
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912; 24875298
Deafness_IsolatedAndComplex v0.187 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912
Deafness_IsolatedAndComplex v0.186 CCDC50 Zornitza Stark Classified gene: CCDC50 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.186 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Marked gene: CATSPER2 as ready
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Gene: catsper2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Classified gene: CATSPER2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Gene: catsper2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.184 CATSPER2 Zornitza Stark reviewed gene: CATSPER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Deafness, X-linked 5, MIM# 300614
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.183 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Deafness_IsolatedAndComplex v0.183 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.182 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25986071; Phenotypes: Deafness, X-linked 5, MIM# 300614; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Marked gene: SPATC1L as ready
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Classified gene: SPATC1L as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.181 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: SPATC1L was set to AMBER
Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.179 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
Review for gene: SPATA5 was set to GREEN
Added comment: 14 children from 10 families reported, deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.177 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Review for gene: SLC52A2 was set to GREEN
Added comment: Deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.176 Zornitza Stark removed gene:SLC25A6 from the panel
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark gene: SLC26A5 was added
gene: SLC26A5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC26A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A5 were set to 24164807
Phenotypes for gene: SLC26A5 were set to Deafness, autosomal recessive 61, MIM# 613865
Review for gene: SLC26A5 was set to RED
Added comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Sources: Expert list
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.173 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28181337; 28165339; 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Classified gene: SERAC1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.171 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Review for gene: SERAC1 was set to GREEN
Added comment: Deafness is a common part of the phenotype of this metabolic condition.
Sources: Expert list
Deafness_IsolatedAndComplex v0.170 WBP2 Zornitza Stark Phenotypes for gene: WBP2 were changed from Deafness, autosomal recessive 107, MIM3 617639 to Deafness, autosomal recessive 107, MIM# 617639
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Marked gene: WBP2 as ready
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Classified gene: WBP2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.168 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: 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, MIM3 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Classified gene: TMEM132E as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.166 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: TMEM132E was set to AMBER
Added comment: Single family reported, supportive animal model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.165 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Marked gene: SPNS2 as ready
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Classified gene: SPNS2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.163 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Deafness_IsolatedAndComplex v0.162 ESRP1 Zornitza Stark Classified gene: ESRP1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.162 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.161 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: ESRP1 was set to AMBER
Added comment: Single family reported with affected sibs, mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark Marked gene: SLC25A6 as ready
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark Gene: slc25a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark gene: SLC25A6 was added
gene: SLC25A6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC25A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A6 were set to 24164807
Phenotypes for gene: SLC25A6 were set to Deafness, autosomal recessive 61, MIM# 613865
Review for gene: SLC25A6 was set to RED
Added comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Sources: Expert list
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Marked gene: PPIP5K2 as ready
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.158 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Marked gene: ROR1 as ready
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Classified gene: ROR1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.156 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: ROR1 was set to AMBER
Added comment: Single family, homozygous missense variant in sibs; mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Marked gene: S1PR2 as ready
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Classified gene: S1PR2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.154 S1PR2 Zornitza Stark gene: S1PR2 was added
gene: S1PR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S1PR2 were set to 26805784; 29776397; 27383011
Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419
Review for gene: S1PR2 was set to GREEN
Added comment: Three unrelated families and a mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Classified gene: RIPOR2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.152 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: RIPOR2 was set to AMBER
Added comment: Single family and animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Classified gene: NARS2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.150 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 25807530; 28077841; 30327238; 25385316
Phenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM# 618434; Combined oxidative phosphorylation deficiency 24, MIM#616239
Review for gene: NARS2 was set to GREEN
Added comment: Only one family described with isolated deafness; however, deafness is also part of the phenotype of the multi-system mitochondrial disorder associated with this gene.
Sources: Expert list
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Marked gene: KIT as ready
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Classified gene: KIT as Green List (high evidence)
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.148 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: KIT was set to GREEN
Added comment: Deafness described in a proportion of affected individuals.
Sources: Expert list
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Marked gene: HAAO as ready
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Classified gene: HAAO as Green List (high evidence)
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Marked gene: HAAO as ready
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Gene: haao has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Classified gene: HAAO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Gene: haao has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.145 HAAO Zornitza Stark gene: HAAO was added
gene: HAAO was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
Review for gene: HAAO was set to AMBER
Added comment: Two unrelated families described with bi-allelic variants in this gene and a multiple congenital anomalies disorder, including deafness. Functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.143 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 30561130; 28017832
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness
Review for gene: VPS33B was set to GREEN
Added comment: Four unrelated individuals reported with this phenotype.
This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: Literature
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Phenotypes for gene: CLDN9 were changed from to Deafness, autosomal recessive
Deafness_IsolatedAndComplex v0.141 CLDN9 Zornitza Stark Classified gene: CLDN9 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.141 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.140 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Review for gene: CLDN9 was set to AMBER
Added comment: Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.138 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: TOP2B was set to AMBER
Added comment: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Marked gene: BCAP31 as ready
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Classified gene: BCAP31 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.136 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989; 31330203; 28332767
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Review for gene: BCAP31 was set to GREEN
Added comment: Five unrelated families reported, deafness is part of the phenotype.
Sources: Literature
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Deafness_IsolatedAndComplex v0.134 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.134 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.133 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four families reported with bi-allelic LoF variants in this gene.
Sources: Literature
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Marked gene: BDP1 as ready
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Deafness_IsolatedAndComplex v0.131 BDP1 Zornitza Stark Publications for gene: BDP1 were set to
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Classified gene: BDP1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Added comment: Comment on list classification: Single family, nonstop variant.
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.129 BDP1 Zornitza Stark Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to
Deafness_IsolatedAndComplex v0.127 CCDC50 Zornitza Stark Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44, MIM# 607453; Childhood onset deafness, progressive
Deafness_IsolatedAndComplex v0.126 CCDC50 Zornitza Stark Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.125 CCDC50 Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.125 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss, MIM#617236
Deafness_IsolatedAndComplex v0.123 CEP78 Zornitza Stark Classified gene: CEP78 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.123 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Marked gene: CRYM as ready
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Gene: crym has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.121 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from Deafness, autosomal dominant 40, MIM# 616357 to Deafness, autosomal dominant 40, MIM# 616357
Deafness_IsolatedAndComplex v0.120 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.120 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.119 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40, MIM# 616357
Deafness_IsolatedAndComplex v0.119 CRYM Zornitza Stark Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Deafness_IsolatedAndComplex v0.118 CRYM Zornitza Stark Publications for gene: CRYM were set to
Deafness_IsolatedAndComplex v0.117 CRYM Zornitza Stark Classified gene: CRYM as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.117 CRYM Zornitza Stark Gene: crym has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Mode of inheritance for gene: DIABLO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.115 DIABLO Zornitza Stark Publications for gene: DIABLO were set to
Deafness_IsolatedAndComplex v0.114 DIABLO Zornitza Stark Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64, MIM# 614152
Deafness_IsolatedAndComplex v0.113 DIABLO Zornitza Stark Classified gene: DIABLO as Red List (low evidence)
Deafness_IsolatedAndComplex v0.113 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from to Deafness, autosomal recessive 102, MIM# 615974
Deafness_IsolatedAndComplex v0.110 EPS8 Zornitza Stark Publications for gene: EPS8 were set to
Deafness_IsolatedAndComplex v0.109 EPS8 Zornitza Stark Mode of inheritance for gene: EPS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.108 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.106 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to
Deafness_IsolatedAndComplex v0.106 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Deafness_IsolatedAndComplex v0.106 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from sensorineural deafness and distal renal tubular acidosis to Enlarged vestibular aqueduct, MIM# 600791
Deafness_IsolatedAndComplex v0.105 GRXCR2 Zornitza Stark Marked gene: GRXCR2 as ready
Deafness_IsolatedAndComplex v0.105 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.105 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from to sensorineural deafness and distal renal tubular acidosis
Deafness_IsolatedAndComplex v0.104 FOXI1 Zornitza Stark Mode of inheritance for gene: FOXI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.103 GRXCR2 Zornitza Stark Mode of inheritance for gene: GRXCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.102 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to
Deafness_IsolatedAndComplex v0.101 GRXCR2 Zornitza Stark Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837
Deafness_IsolatedAndComplex v0.100 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.100 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Deafness_IsolatedAndComplex v0.98 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Deafness_IsolatedAndComplex v0.97 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Deafness_IsolatedAndComplex v0.97 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Marked gene: KARS as ready
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Deafness, autosomal recessive 89, MIM# 613916
Deafness_IsolatedAndComplex v0.95 KARS Zornitza Stark Publications for gene: KARS were set to
Deafness_IsolatedAndComplex v0.94 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Added comment: Comment when marking as ready: Note that it is the association with isolated deafness that is disputed. There is ample evidence that bi-allelic variants cause syndromic deafness.
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
Deafness_IsolatedAndComplex v0.92 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Deafness_IsolatedAndComplex v0.91 KCNJ10 Zornitza Stark Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4, MIM#615300
Deafness_IsolatedAndComplex v0.89 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Marked gene: MCM2 as ready
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Classified gene: MCM2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from Autosomal dominant hearing loss to Deafness, autosomal dominant 50, MIM# 613074
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from to Autosomal dominant hearing loss
Deafness_IsolatedAndComplex v0.85 MIR96 Zornitza Stark Publications for gene: MIR96 were set to
Deafness_IsolatedAndComplex v0.85 MIR96 Zornitza Stark Mode of inheritance for gene: MIR96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.84 MIR96 Zornitza Stark Classified gene: MIR96 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.84 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.83 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21165622, 26754646, 23990876; Phenotypes: Deafness, autosomal recessive 30, MIM# 607101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from Deafness, autosomal dominant 4A, MIM# 600652 to Deafness, autosomal dominant 4A, MIM# 600652
Deafness_IsolatedAndComplex v0.82 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from to Deafness, autosomal dominant 4A, MIM# 600652
Deafness_IsolatedAndComplex v0.82 MYH14 Zornitza Stark Mode of inheritance for gene: MYH14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MIR96 Lilian Downie reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: None; Publications: 19363479, 29325119; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Marked gene: MSRB3 as ready
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Gene: msrb3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Phenotypes for gene: MSRB3 were changed from to Deafness, autosomal recessive 74, MIM# 613718
Deafness_IsolatedAndComplex v0.80 MSRB3 Zornitza Stark Publications for gene: MSRB3 were set to
Deafness_IsolatedAndComplex v0.79 MSRB3 Zornitza Stark reviewed gene: MSRB3: Rating: ; Mode of pathogenicity: None; Publications: 19650862, 24191262, 21185009; Phenotypes: Deafness, autosomal recessive 74, MIM# 613718; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark Marked gene: MET as ready
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark gene: MET was added
gene: MET was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MET was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MET were set to 25941349; 31801140
Phenotypes for gene: MET were set to Deafness, autosomal recessive 97, MIM# 616705
Review for gene: MET was set to RED
Added comment: Two families reported, no functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.78 MCM2 Lilian Downie gene: MCM2 was added
gene: MCM2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MCM2 were set to 26196677
Phenotypes for gene: MCM2 were set to Autosomal dominant hearing loss
Review for gene: MCM2 was set to RED
Added comment: One family, expression studies.
Sources: Expert list
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Marked gene: KITLG as ready
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.77 LARS2 Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541342, 27650058, 26970254, 26657938, 28832386, 28000701, 29205794; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.77 KITLG Zornitza Stark gene: KITLG was added
gene: KITLG was added to Deafness_MelbourneGenomics_VCGS. Sources: 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
Review for gene: KITLG was set to AMBER
Added comment: Two unrelated families, limited functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.76 KCNJ10 Lilian Downie reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, MIM# 612347 to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Deafness_IsolatedAndComplex v0.75 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Deafness_IsolatedAndComplex v0.75 KCNE1 Zornitza Stark Mode of inheritance for gene: KCNE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 KCNE1 Zornitza Stark reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 KARS Lilian Downie reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 23768514, 23768514, 14975237; Phenotypes: autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Phenotypes for gene: HOMER2 were changed from to Deafness, autosomal dominant 68, MIM# 616707
Deafness_IsolatedAndComplex v0.73 HOMER2 Zornitza Stark Publications for gene: HOMER2 were set to
Deafness_IsolatedAndComplex v0.72 HOMER2 Zornitza Stark reviewed gene: HOMER2: Rating: ; Mode of pathogenicity: None; Publications: 25816005, 30047143, 25816005; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.72 HARS2 Lilian Downie reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Marked gene: HGF as ready
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Phenotypes for gene: HGF were changed from to Deafness, autosomal recessive 39, MIM# 608265
Deafness_IsolatedAndComplex v0.71 HGF Zornitza Stark reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576567; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.71 HARS Zornitza Stark Publications for gene: HARS were set to 22279524
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Marked gene: HARS as ready
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Gene: hars has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Phenotypes for gene: HARS were changed from Usher syndrome type 3B, MIM# 614504 to Usher syndrome type 3B, MIM# 614504
Deafness_IsolatedAndComplex v0.69 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.69 HARS Zornitza Stark Phenotypes for gene: HARS were changed from to Usher syndrome type 3B, MIM# 614504
Deafness_IsolatedAndComplex v0.68 GRXCR2 Lilian Downie changed review comment from: Single family with multiple sibs, function studies.; to: Single family with multiple sibs, function studies. 'Moderate' classification from ClinGen expert panel.
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Publications for gene: HARS were set to
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Classified gene: HARS as Red List (low evidence)
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Gene: hars has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.67 GRXCR2 Lilian Downie reviewed gene: GRXCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24619944; Phenotypes: autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.67 HARS Zornitza Stark reviewed gene: HARS: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Usher syndrome type 3B, MIM# 614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Deafness, autosomal dominant 28, MIM# 608641 to Deafness, autosomal dominant 28, MIM# 608641
Deafness_IsolatedAndComplex v0.66 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.65 FOXI1 Lilian Downie reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29242249, 9843211; Phenotypes: sensorineural deafness and distal renal tubular acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.65 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from to Deafness, autosomal dominant 28, MIM# 608641
Deafness_IsolatedAndComplex v0.65 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.64 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from Deafness, autosomal dominant 2B, MIM# 612644 to Deafness, autosomal dominant 2B, MIM# 612644
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Publications for gene: GJB3 were set to 9843210
Deafness_IsolatedAndComplex v0.63 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Deafness, autosomal dominant 2B, MIM# 612644
Deafness_IsolatedAndComplex v0.63 GJB3 Zornitza Stark Publications for gene: GJB3 were set to
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Classified gene: GJB3 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.61 GJB3 Zornitza Stark reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 9843210; Phenotypes: Deafness, autosomal dominant 2B, MIM# 612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.60 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 23918390; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.59 EPS8 Lilian Downie reviewed gene: EPS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741995; Phenotypes: Nonsyndromic sensorineural deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Marked gene: ELMOD3 as ready
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.58 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.58 ELMOD3 Zornitza Stark Publications for gene: ELMOD3 were set to
Deafness_IsolatedAndComplex v0.57 ELMOD3 Zornitza Stark Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.56 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.56 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.55 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie changed review comment from: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families.
Sources: Expert list; to: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). As a dominant cause of non syndromic deafness this gene is RED. Single paper with AR phenotype in 3 unrelated families - for the AR phenotype is GREEN.
Sources: Expert list
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie edited their review of gene: DMXL2: Changed rating: GREEN
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie gene: DMXL2 was added
gene: DMXL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DMXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 27657680; 22875945; 31688942
Phenotypes for gene: DMXL2 were set to Autosomal dominant hearing loss; autosomal recessive EE with deafness
Review for gene: DMXL2 was set to RED
Added comment: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families.
Sources: Expert list
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM# 277580
Deafness_IsolatedAndComplex v0.54 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.53 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.53 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome, type 4B, MIM# 613265 to Waardenburg syndrome, type 4B, MIM# 613265
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, MIM# 613265
Deafness_IsolatedAndComplex v0.51 EDN3 Zornitza Stark Publications for gene: EDN3 were set to
Deafness_IsolatedAndComplex v0.50 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.49 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 19764030; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, MIM#609129 to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIABLO Lilian Downie reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: Other; Publications: 21722859, 10929711; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to
Deafness_IsolatedAndComplex v0.47 DIAPH3 Zornitza Stark Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.45 DIAPH3 Zornitza Stark reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.45 CRYM Lilian Downie reviewed gene: CRYM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCDC2 were set to 25601850; 22558177; 25130614
Phenotypes for gene: DCDC2 were set to Deafness, autosomal recessive 66, MIM# 610212
Review for gene: DCDC2 was set to RED
Added comment: Single family reported with deafness, some supportive functional data. Rated as LIMITED by ClinGen.
Sources: Expert list
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from Deafness, X-linked 6, MIM# 300914 to Deafness, X-linked 6, MIM# 300914
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Marked gene: COL4A6 as ready
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to 23714752
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6, MIM# 300914
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Mode of inheritance for gene: COL4A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.42 COL4A6 Zornitza Stark Classified gene: COL4A6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.42 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.41 COL4A6 Zornitza Stark reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM# 300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.41 CEP78 Lilian Downie gene: CEP78 was added
gene: CEP78 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP78 were set to 28005958; 27588451; 27588452; 27627988
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
Review for gene: CEP78 was set to GREEN
Added comment: Classified as 'Strong'by ClinGen hearing loss expert panel. Atypical Usher phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Marked gene: CLIC5 as ready
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.40 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.39 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.39 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to 24781754; 17021174
Deafness_IsolatedAndComplex v0.38 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to
Deafness_IsolatedAndComplex v0.38 CLIC5 Zornitza Stark Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.37 CLIC5 Zornitza Stark Classified gene: CLIC5 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.37 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.36 CLIC5 Zornitza Stark reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.36 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM# 604928 to Wolfram syndrome 2, MIM# 604928
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM# 604928
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.34 CISD2 Zornitza Stark reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM# 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Marked gene: CEACAM16 as ready
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Gene: ceacam16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Deafness_IsolatedAndComplex v0.33 CEACAM16 Zornitza Stark Publications for gene: CEACAM16 were set to
Deafness_IsolatedAndComplex v0.32 CEACAM16 Zornitza Stark Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.31 CEACAM16 Zornitza Stark reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.31 CCDC50 Lilian Downie reviewed gene: CCDC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 17503326, 27911912; Phenotypes: Childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Phenotypes for gene: CDC14A were changed from to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Deafness_IsolatedAndComplex v0.30 CDC14A Zornitza Stark Publications for gene: CDC14A were set to
Deafness_IsolatedAndComplex v0.29 CDC14A Zornitza Stark Mode of inheritance for gene: CDC14A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.28 CDC14A Zornitza Stark reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 27259055; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark Marked gene: CD164 as ready
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark Gene: cd164 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark gene: CD164 was added
gene: CD164 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CD164 were set to 26197441
Phenotypes for gene: CD164 were set to Deafness, autosomal dominant 66, MIM# 616969
Review for gene: CD164 was set to RED
Added comment: Single family reported; rated as LIMITED evidence by ClinGen.
Sources: Expert list
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from Sinoatrial node dysfunction and deafness, MIM# 614896 to Sinoatrial node dysfunction and deafness, MIM# 614896
Deafness_IsolatedAndComplex v0.26 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Sinoatrial node dysfunction and deafness, MIM# 614896
Deafness_IsolatedAndComplex v0.26 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.25 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Deafness_IsolatedAndComplex v0.24 CACNA1D Zornitza Stark Classified gene: CACNA1D as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.24 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.23 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: 21131953, 15357422, 22678062; Phenotypes: Sinoatrial node dysfunction and deafness, MIM# 614896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.23 BDP1 Lilian Downie reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Non syndromic hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899
Deafness_IsolatedAndComplex v0.22 CABP2 Zornitza Stark Publications for gene: CABP2 were set to
Deafness_IsolatedAndComplex v0.21 CABP2 Zornitza Stark Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.20 CABP2 Zornitza Stark reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Marked gene: ADCY1 as ready
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from Deafness, autosomal recessive 44, MIM# 610154 to Deafness, autosomal recessive 44, MIM# 610154
Deafness_IsolatedAndComplex v0.19 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154
Deafness_IsolatedAndComplex v0.19 ADCY1 Zornitza Stark Publications for gene: ADCY1 were set to
Deafness_IsolatedAndComplex v0.18 ADCY1 Zornitza Stark Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.17 ADCY1 Zornitza Stark Classified gene: ADCY1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.17 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.16 ADCY1 Zornitza Stark reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.16 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Marked gene: ACTB as ready
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Deafness_IsolatedAndComplex v0.14 ACTB Zornitza Stark Publications for gene: ACTB were set to
Deafness_IsolatedAndComplex v0.13 ACTB Zornitza Stark Mode of pathogenicity for gene: ACTB was changed from to Other
Deafness_IsolatedAndComplex v0.12 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.11 ACTB Lilian Downie reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25052316, PMID: 29788902; Phenotypes: Baraitser-Winter syndrome, Deafness-dystonia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791; Pendred syndrome, MIM#274600
Deafness_IsolatedAndComplex v0.10 SLC26A4 Zornitza Stark Publications for gene: SLC26A4 were set to
Deafness_IsolatedAndComplex v0.9 SLC26A4 Zornitza Stark Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim Deleted their review
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Marked gene: CD151 as ready
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.7 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Review for gene: CD151 was set to GREEN
Added comment: Three families described in the literature.
Sources: Literature
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.5 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
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
Review for gene: PLS1 was set to GREEN
Added comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: Literature
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.4 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.3 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Deafness_IsolatedAndComplex v0.1 TMTC2 Zornitza Stark Marked gene: TMTC2 as ready
Deafness_IsolatedAndComplex v0.1 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.1 TMTC2 Zornitza Stark Classified gene: TMTC2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.1 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.0 TMTC2 Zornitza Stark reviewed gene: TMTC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29671961, 27311106; Phenotypes: Deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: WHRN was set to Unknown
Deafness_IsolatedAndComplex v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: WFS1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: USH2A was set to Unknown
Deafness_IsolatedAndComplex v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: USH1G was set to Unknown
Deafness_IsolatedAndComplex v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: USH1C was set to Unknown
Deafness_IsolatedAndComplex v0.0 TUBB4B Zornitza Stark gene: TUBB4B was added
gene: TUBB4B was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TUBB4B was set to Unknown
Deafness_IsolatedAndComplex v0.0 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TSPEAR was set to Unknown
Deafness_IsolatedAndComplex v0.0 TRIOBP Zornitza Stark gene: TRIOBP was added
gene: TRIOBP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TRIOBP was set to Unknown
Deafness_IsolatedAndComplex v0.0 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TRAF7 was set to Unknown
Deafness_IsolatedAndComplex v0.0 TPRN Zornitza Stark gene: TPRN was added
gene: TPRN was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TPRN was set to Unknown
Deafness_IsolatedAndComplex v0.0 TNC Zornitza Stark gene: TNC was added
gene: TNC was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TNC was set to Unknown
Deafness_IsolatedAndComplex v0.0 TMTC2 Zornitza Stark gene: TMTC2 was added
gene: TMTC2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TMTC2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 TMPRSS3 Zornitza Stark gene: TMPRSS3 was added
gene: TMPRSS3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TMPRSS3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 TMIE Zornitza Stark gene: TMIE was added
gene: TMIE was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TMIE was set to Unknown
Deafness_IsolatedAndComplex v0.0 TMC1 Zornitza Stark gene: TMC1 was added
gene: TMC1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TMC1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TJP2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TIMM8A was set to Unknown
Deafness_IsolatedAndComplex v0.0 TECTA Zornitza Stark gene: TECTA was added
gene: TECTA was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TECTA was set to Unknown
Deafness_IsolatedAndComplex v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: TBC1D24 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SYNE4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 STRC Zornitza Stark gene: STRC was added
gene: STRC was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: STRC was set to Unknown
Deafness_IsolatedAndComplex v0.0 SPTBN4 Zornitza Stark gene: SPTBN4 was added
gene: SPTBN4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SPTBN4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SOX2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SOX10 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SNAI2 Zornitza Stark gene: SNAI2 was added
gene: SNAI2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SNAI2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SMPX Zornitza Stark gene: SMPX was added
gene: SMPX was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SMPX was set to Unknown
Deafness_IsolatedAndComplex v0.0 SLITRK6 Zornitza Stark gene: SLITRK6 was added
gene: SLITRK6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SLITRK6 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SLC4A11 Zornitza Stark gene: SLC4A11 was added
gene: SLC4A11 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SLC4A11 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SLC26A4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SLC17A8 Zornitza Stark gene: SLC17A8 was added
gene: SLC17A8 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SLC17A8 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SIX5 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SIX1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SERPINB6 Zornitza Stark gene: SERPINB6 was added
gene: SERPINB6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SERPINB6 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SALL4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: SALL1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 RDX Zornitza Stark gene: RDX was added
gene: RDX was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: RDX was set to Unknown
Deafness_IsolatedAndComplex v0.0 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PTPRQ was set to Unknown
Deafness_IsolatedAndComplex v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PRPS1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 POU4F3 Zornitza Stark gene: POU4F3 was added
gene: POU4F3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: POU4F3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 POU3F4 Zornitza Stark gene: POU3F4 was added
gene: POU3F4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: POU3F4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PNPT1 Zornitza Stark gene: PNPT1 was added
gene: PNPT1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PNPT1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PMP22 Zornitza Stark gene: PMP22 was added
gene: PMP22 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PMP22 was set to Unknown
Deafness_IsolatedAndComplex v0.0 DFNB59 Zornitza Stark gene: DFNB59 was added
gene: DFNB59 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: DFNB59 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PDZD7 Zornitza Stark gene: PDZD7 was added
gene: PDZD7 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PDZD7 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PCDH15 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PBX1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PAX3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PAX2 Zornitza Stark gene: PAX2 was added
gene: PAX2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PAX2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 PAX1 Zornitza Stark gene: PAX1 was added
gene: PAX1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PAX1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 P2RX2 Zornitza Stark gene: P2RX2 was added
gene: P2RX2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: P2RX2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 OTOGL Zornitza Stark gene: OTOGL was added
gene: OTOGL was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: OTOGL was set to Unknown
Deafness_IsolatedAndComplex v0.0 OTOG Zornitza Stark gene: OTOG was added
gene: OTOG was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: OTOG was set to Unknown
Deafness_IsolatedAndComplex v0.0 OTOF Zornitza Stark gene: OTOF was added
gene: OTOF was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: OTOF was set to Unknown
Deafness_IsolatedAndComplex v0.0 OTOA Zornitza Stark gene: OTOA was added
gene: OTOA was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: OTOA was set to Unknown
Deafness_IsolatedAndComplex v0.0 OSBPL2 Zornitza Stark gene: OSBPL2 was added
gene: OSBPL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: OSBPL2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: OPA1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 NR2F1 Zornitza Stark gene: NR2F1 was added
gene: NR2F1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: NR2F1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MYO7A was set to Unknown
Deafness_IsolatedAndComplex v0.0 MYO6 Zornitza Stark gene: MYO6 was added
gene: MYO6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MYO6 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MYO3A Zornitza Stark gene: MYO3A was added
gene: MYO3A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MYO3A was set to Unknown
Deafness_IsolatedAndComplex v0.0 MYO15A Zornitza Stark gene: MYO15A was added
gene: MYO15A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MYO15A was set to Unknown
Deafness_IsolatedAndComplex v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MYH9 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MYH14 Zornitza Stark gene: MYH14 was added
gene: MYH14 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MYH14 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MSRB3 Zornitza Stark gene: MSRB3 was added
gene: MSRB3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MSRB3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MPZL2 Zornitza Stark gene: MPZL2 was added
gene: MPZL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MPZL2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MITF was set to Unknown
Deafness_IsolatedAndComplex v0.0 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MIR96 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MASP1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 MARVELD2 Zornitza Stark gene: MARVELD2 was added
gene: MARVELD2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: MARVELD2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 LRTOMT Zornitza Stark gene: LRTOMT was added
gene: LRTOMT was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: LRTOMT was set to Unknown
Deafness_IsolatedAndComplex v0.0 LOXHD1 Zornitza Stark gene: LOXHD1 was added
gene: LOXHD1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: LOXHD1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 LMX1A Zornitza Stark gene: LMX1A was added
gene: LMX1A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: LMX1A was set to Unknown
Deafness_IsolatedAndComplex v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: LHX3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 LHFPL5 Zornitza Stark gene: LHFPL5 was added
gene: LHFPL5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: LHFPL5 was set to Unknown
Deafness_IsolatedAndComplex v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: LARS2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 KCNQ4 Zornitza Stark gene: KCNQ4 was added
gene: KCNQ4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: KCNQ4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: KCNQ1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: KCNJ10 was set to Unknown
Deafness_IsolatedAndComplex v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: KCNE1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: KARS was set to Unknown
Deafness_IsolatedAndComplex v0.0 ILDR1 Zornitza Stark gene: ILDR1 was added
gene: ILDR1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ILDR1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: HSD17B4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 HOXA2 Zornitza Stark gene: HOXA2 was added
gene: HOXA2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: HOXA2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 HOMER2 Zornitza Stark gene: HOMER2 was added
gene: HOMER2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: HOMER2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 HGF Zornitza Stark gene: HGF was added
gene: HGF was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: HGF was set to Unknown
Deafness_IsolatedAndComplex v0.0 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: HARS2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: HARS was set to Unknown
Deafness_IsolatedAndComplex v0.0 DFNA5 Zornitza Stark gene: DFNA5 was added
gene: DFNA5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: DFNA5 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GRXCR2 Zornitza Stark gene: GRXCR2 was added
gene: GRXCR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GRXCR2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GRXCR1 Zornitza Stark gene: GRXCR1 was added
gene: GRXCR1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GRXCR1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GRHL2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GPSM2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GJB6 Zornitza Stark gene: GJB6 was added
gene: GJB6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GJB6 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GJB4 Zornitza Stark gene: GJB4 was added
gene: GJB4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GJB4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GJB3 Zornitza Stark gene: GJB3 was added
gene: GJB3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GJB3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GJB2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GJB1 Zornitza Stark gene: GJB1 was added
gene: GJB1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GJB1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GIPC3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: GATA3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 FOXI1 Zornitza Stark gene: FOXI1 was added
gene: FOXI1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: FOXI1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: FGF3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: FDXR was set to Unknown
Deafness_IsolatedAndComplex v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: EYA4 was set to Unknown
Deafness_IsolatedAndComplex v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: EYA1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 ESRRB Zornitza Stark gene: ESRRB was added
gene: ESRRB was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ESRRB was set to Unknown
Deafness_IsolatedAndComplex v0.0 ESPN Zornitza Stark gene: ESPN was added
gene: ESPN was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ESPN was set to Unknown
Deafness_IsolatedAndComplex v0.0 EPS8 Zornitza Stark gene: EPS8 was added
gene: EPS8 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: EPS8 was set to Unknown
Deafness_IsolatedAndComplex v0.0 ELMOD3 Zornitza Stark gene: ELMOD3 was added
gene: ELMOD3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ELMOD3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: EDNRB was set to Unknown
Deafness_IsolatedAndComplex v0.0 EDN3 Zornitza Stark gene: EDN3 was added
gene: EDN3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: EDN3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 DSPP Zornitza Stark gene: DSPP was added
gene: DSPP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: DSPP was set to Unknown
Deafness_IsolatedAndComplex v0.0 DNMT1 Zornitza Stark gene: DNMT1 was added
gene: DNMT1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: DNMT1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 DIAPH3 Zornitza Stark gene: DIAPH3 was added
gene: DIAPH3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: DIAPH3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: DIAPH1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 DIABLO Zornitza Stark gene: DIABLO was added
gene: DIABLO was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: DIABLO was set to Unknown
Deafness_IsolatedAndComplex v0.0 CRYM Zornitza Stark gene: CRYM was added
gene: CRYM was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CRYM was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL9A3 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL9A2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL9A1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL4A6 Zornitza Stark gene: COL4A6 was added
gene: COL4A6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL4A6 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL4A5 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL2A1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL11A2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COL11A1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: COCH was set to Unknown
Deafness_IsolatedAndComplex v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CLRN1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CLPP was set to Unknown
Deafness_IsolatedAndComplex v0.0 CLIC5 Zornitza Stark gene: CLIC5 was added
gene: CLIC5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CLIC5 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CLDN14 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CISD2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CIB2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CHD7 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CEACAM16 Zornitza Stark gene: CEACAM16 was added
gene: CEACAM16 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CEACAM16 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CDH23 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CDC14A Zornitza Stark gene: CDC14A was added
gene: CDC14A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CDC14A was set to Unknown
Deafness_IsolatedAndComplex v0.0 CCDC50 Zornitza Stark gene: CCDC50 was added
gene: CCDC50 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CCDC50 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CATSPER2 Zornitza Stark gene: CATSPER2 was added
gene: CATSPER2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CATSPER2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CACNA1D was set to Unknown
Deafness_IsolatedAndComplex v0.0 CABP2 Zornitza Stark gene: CABP2 was added
gene: CABP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: CABP2 was set to Unknown
Deafness_IsolatedAndComplex v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: BSND was set to Unknown
Deafness_IsolatedAndComplex v0.0 BDP1 Zornitza Stark gene: BDP1 was added
gene: BDP1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: BDP1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: BCS1L was set to Unknown
Deafness_IsolatedAndComplex v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ATP6V1B1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ALMS1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: AIFM1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ADGRV1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 ADCY1 Zornitza Stark gene: ADCY1 was added
gene: ADCY1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ADCY1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ACTG1 was set to Unknown
Deafness_IsolatedAndComplex v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ACTB was set to Unknown
Deafness_IsolatedAndComplex v0.0 ABHD12 Zornitza Stark gene: ABHD12 was added
gene: ABHD12 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: ABHD12 was set to Unknown
Deafness_IsolatedAndComplex v0.0 Zornitza Stark Added panel Deafness_MelbourneGenomics_VCGS