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  2. Lysosomal storage disorder
  3. ASAH1
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Lysosomal storage disorder

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

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Farber lipogranulomatosis 228000

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Farber lipogranulomatosis OMIM:228000
  • Farber lipogranulomatosis MONDO:0009218
OMIM
613468
Clinvar variants
Variants in ASAH1
Penetrance
None
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis 228000 to Farber lipogranulomatosis OMIM:228000; Farber lipogranulomatosis MONDO:0009218

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ASAH1 was added gene: ASAH1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis 228000