1. Panels
  2. Familial pulmonary fibrosis
  3. ASAH1
STRs in panel
Prev Next
Regions in panel
Prev Next

Familial pulmonary fibrosis

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

Alice Gardham (Genomics England)

Green List (high evidence)

Interstitial lung disease seen in all severely affected infants
Created: 9 Feb 2017, 2:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Farber lipogranulomatosis 228000

Publications

Created: 9 Feb 2017, 2:48 p.m.

Panel version: 0.90

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Farber lipogranulomatosis, 228000
OMIM
613468
Clinvar variants
Variants in ASAH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ASAH1 were set to Farber lipogranulomatosis, 228000

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

ASAH1 was added to Familial pulmonary fibrosispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

9 Feb 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

ASAH1 was created by agardham