1. Panels
  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. ABHD12
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Recessive/X-linked

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • nonsyndromic retinitis pigmentosa
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 to nonsyndromic retinitis pigmentosa; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857

24 May 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ABHD12 were set to

23 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 Autosomal Recessive/X-Linked Retinitis Pigmentosa_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 andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857