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Inborn errors of metabolism

Gene: ABHD12

Green List (high evidence)

ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 6 unrelated cases
Created: 22 Aug 2019, 4:02 p.m. | Last Modified: 22 Aug 2019, 4:02 p.m.
Panel Version: 1.255

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674; Hereditary ataxia; Posterior segment abnormalities; Congenital hearing impairment (profound/severe); PHARC syndrome (Disorders of complex lipid synthesis)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary ataxia
  • Posterior segment abnormalities
  • Congenital hearing impairment (profound/severe)
  • PHARC syndrome (Disorders of complex lipid synthesis)
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

22 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ABHD12. Source London North GLH was added to ABHD12.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: ABHD12 was added gene: ABHD12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 27604308 Phenotypes for gene: ABHD12 were set to Hereditary ataxia; Posterior segment abnormalities; Congenital hearing impairment (profound/severe); PHARC syndrome (Disorders of complex lipid synthesis)