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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
Undiagnosed metabolic disorders v1.102 ASAH1 Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
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.
Undiagnosed metabolic disorders v1.102 ASAH1 Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.101 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to 27604308
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders ASAH1 Sarah Leigh reviewed ASAH1