Congenital myopathy

Gene: ADSSL1

Green List (high evidence)

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ADSSL1 is ADSS1
Created: 10 May 2022, 2:56 p.m. | Last Modified: 10 May 2022, 2:56 p.m.
Panel Version: 3.1

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Onset is in late childhood/adolescence so not appropriate for congenital panel.
Created: 10 Jun 2020, 8:41 p.m. | Last Modified: 10 Jun 2020, 8:48 p.m.
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5, MIM# 617030

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: New Green gene suggested by Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) for R81
Created: 5 Dec 2019, 4:45 p.m. | Last Modified: 5 Dec 2019, 4:45 p.m.
Panel Version: 1.232

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Patient muscle samples showed decreased expression of the mutant missense protein and no expression of the truncated protein, which was attributed to increased degradation of the mutant proteins. In vitro studies in cultured mouse muscle cells and zebrafish indicated that the mutations resulted in a loss of function
Sources: Literature, Expert Review
Created: 5 Dec 2019, 2:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, distal, 5, 617030
Tags
new-gene-name
OMIM
612498
Clinvar variants
Variants in ADSSL1
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: ADSSL1.

5 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5 to Myopathy, distal, 5, 617030

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: adssl1 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222

5 Dec 2019, Gel status: 0

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

Anna Sarkozy (Great Ormond Street Hospital)

gene: ADSSL1 was added gene: ADSSL1 was added to Congenital myopathy. Sources: Literature,Expert Review Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222 Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5 Penetrance for gene: ADSSL1 were set to unknown Mode of pathogenicity for gene: ADSSL1 was set to Other Review for gene: ADSSL1 was set to GREEN