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  3. ABHD12
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Usher Syndrome

Gene: ABHD12

Green List (high evidence)
ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 24 Sep 2020, 11:28 a.m. | Last Modified: 24 Sep 2020, 11:28 a.m.
Panel Version: 0.389

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674

Publications

Created: 24 Sep 2020, 11:28 a.m.
Last Modified: 24 Sep 2020, 11:28 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.389

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
  • Usher syndrome type 3
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abhd12 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABHD12 were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ABHD12 was added gene: ABHD12 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857; Usher syndrome type 3