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  3. ABHD12
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Hereditary Neuropathy - complex

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established disease gene (see OMIM). Biallelic variants cause an inborn error of endocannabinoid metabolism.
Sources: NHS GMS
Created: 22 Jan 2021, 4:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2021, 4:10 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.8

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 Miscellaneous Metabolic Disorders panel version Imported from Mendeliome panel version 0.4566

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
  • Neurodegeneration, childhood-onset, with cerebellar atrophy,612674
  • HMSN
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
None
Panels with this gene

History Filter Activity

13 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 Hereditary Neuropathy - complex_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 Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN