Distal myopathies
Gene: ADSSL1EnsemblGeneIds (GRCh38): ENSG00000185100
EnsemblGeneIds (GRCh37): ENSG00000185100
OMIM: 612498, Gene2Phenotype
ADSSL1 is in 3 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 10:54 a.m. | Last Modified: 11 Oct 2023, 10:54 a.m.
Panel Version: 3.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood.
This gene has also been associated with distal myopathy in OMIM (MIM #617030).
This gene can therefore be promoted to GREEN at the next major review.Created: 13 Apr 2023, 10:47 a.m. | Last Modified: 13 Apr 2023, 10:50 a.m.
Panel Version: 3.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, distal, 5, OMIM:617030
Publications
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for ADSSL1 is ADSS1Created: 10 May 2022, 2:56 p.m. | Last Modified: 10 May 2022, 2:56 p.m.
Panel Version: 1.47
Louise Daugherty (Genomics England Curator)
New gene suggested by Anna Sarkozy for inclusion on the Distal myopathy panel
Sources: Expert ReviewCreated: 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
-
- NHS GMS
- Expert Review Green
- Expert Review
- Phenotypes
-
- Myopathy, distal, 5, OMIM:617030
- Tags
- OMIM
- 612498
- Clinvar variants
- Variants in ADSSL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: ADSSL1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to ADSSL1. Source NHS GMS was added to ADSSL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green tag was added to gene: ADSSL1.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ADSSL1 were set to 26506222
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: ADSSL1.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: adssl1 has been classified as Amber List (Moderate Evidence).
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