1. Panels
  2. Hydrops fetalis
  3. ASAH1
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrops fetalis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lysosomal storage disorder, presentation with hydrops reported.
Created: 22 Aug 2020, 8:08 a.m. | Last Modified: 22 Aug 2020, 8:08 a.m.
Panel Version: 0.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Farber lipogranulomatosis, MIM# 228000

Publications

Created: 22 Aug 2020, 8:08 a.m.
Last Modified: 22 Aug 2020, 8:08 a.m.
Panel version: 0.178

History Filter Activity

22 Aug 2020, 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).

22 Aug 2020, 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

22 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASAH1 were set to

22 Aug 2020, 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

17 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 Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASAH1 was set to Unknown