04 Apr 2019
Undiagnosed metabolic disorders v1.103
ASAH1
Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber disease (Sphingolipidoses); Fetal hydrops; Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950; Farber lipogranulomatosis 228000; Fetal hydrops; Intellectual disability
04 Apr 2019
Undiagnosed metabolic disorders v1.102
ASAH1
Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
04 Apr 2019
Undiagnosed metabolic disorders v1.102
ASAH1
Sarah Leigh Added comment: Comment on list classification: 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.
04 Apr 2019
Undiagnosed metabolic disorders v1.102
ASAH1
Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
04 Apr 2019
Undiagnosed metabolic disorders v1.101
ASAH1
Sarah Leigh Publications for gene: ASAH1 were set to 27604308
06 Jan 2017
Undiagnosed metabolic disorders
ASAH1
Sarah Leigh edited their review of ASAH1
06 Jan 2017
Undiagnosed metabolic disorders
ASAH1
Sarah Leigh edited their review of ASAH1
06 Jan 2017
Undiagnosed metabolic disorders
ASAH1
Sarah Leigh edited their review of ASAH1
06 Jan 2017
Undiagnosed metabolic disorders
ASAH1
Sarah Leigh reviewed ASAH1