Likely inborn error of metabolism - targeted testing not possible
Gene: ASAH1Comment on list classification: 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 relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.Created: 24 Jul 2019, 4:19 p.m. | Last Modified: 12 Aug 2019, 1:38 p.m.
Panel Version: 1.87
Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Publications for gene: ASAH1 were set to 27604308; 29169047; 22703880; 24164096
Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Publications for gene: ASAH1 were set to 27604308
Phenotypes for gene: ASAH1 were changed from Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Gene: asah1 has been classified as Green List (High Evidence).
Gene: asah1 has been classified as Green List (High Evidence).
Source NHS GMS was added to ASAH1. Source London North GLH was added to ASAH1.
Sarah Leigh: Associated with relevant pheno
gene: ASAH1 was added gene: ASAH1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 27604308 Phenotypes for gene: ASAH1 were set to Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops