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  3. ABHD12
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Ataxia - adult onset

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported, progressive condition.
Created: 24 Sep 2020, 11:31 a.m. | Last Modified: 24 Sep 2020, 11:31 a.m.
Panel Version: 0.4566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Sep 2020, 11:31 a.m.
Last Modified: 24 Sep 2020, 11:31 a.m.
Panel version: Imported from Mendeliome panel version 0.4566

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ataxia is a prominent feature of the condition and onset is usually in childhood or adolescence.
Sources: Expert list
Created: 16 Apr 2020, 6:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 16 Apr 2020, 6:48 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, 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 Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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 (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract