Distal myopathies

Gene: ADSSL1

Amber List (moderate evidence)

ADSSL1 (adenylosuccinate synthase like 1)
EnsemblGeneIds (GRCh38): ENSG00000185100
EnsemblGeneIds (GRCh37): ENSG00000185100
OMIM: 612498, Gene2Phenotype
ADSSL1 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

New gene suggested by Anna Sarkozy for inclusion on the Distal myopathy panel
Sources: Expert Review
Created: 2 Dec 2019, 3:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5, 617030

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Myopathy, distal, 5, 617030
OMIM
612498
Clinvar variants
Variants in ADSSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: adssl1 has been classified as Amber List (Moderate Evidence).

2 Dec 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ADSSL1 was added gene: ADSSL1 was added to Distal myopathies. Sources: Expert Review Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSSL1 were set to 26506222 Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5, 617030 Review for gene: ADSSL1 was set to AMBER