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Intellectual disability syndromic and non-syndromic

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

Jacqueline Montgomery (University of Melbourne)

Green List (high evidence)

8 unrelated individuals reported with Farber lipogranulomatosis including developmental delay as part of the phenotype
Created: 5 Dec 2022, 8:04 a.m. | Last Modified: 5 Dec 2022, 8:04 a.m.
Panel Version: 0.5079

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Farber lipogranulomatosis MIM #228000

Publications

History Filter Activity

6 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: asah1 has been classified as Green List (High Evidence).

6 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis MIM #228000

6 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASAH1 were set to

6 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASAH1 was added gene: ASAH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ASAH1 was set to Unknown