Undiagnosed metabolic disordersGene: ABHD12
Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 6 unrelated cases
Created: 22 Aug 2019, 4:15 p.m. | Last Modified: 22 Aug 2019, 4:15 p.m.
Panel Version: 1.256
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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)
Gene: abhd12 has been classified as Green List (High Evidence).
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
ABHD12 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
ABHD12 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
ABHD12 was created by sleigh