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Severe Paediatric Disorders

Gene: ASAH1

Green List (high evidence)

ASAH1 (N-acylsphingosine amidohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ASAH1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Farber lipogranulomatosis, 228000 (3) | Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Farber lipogranulomatosis, 228000
  • Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
OMIM
613468
Clinvar variants
Variants in ASAH1
Penetrance
None
Publications
Panels with this gene

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