Distal myopathies
Gene: ADSSL1
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
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
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
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
Tag Q2_23_promote_green was removed from gene: ADSSL1.
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)
Tag Q2_23_promote_green tag was added to gene: ADSSL1.
Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Publications for gene: ADSSL1 were set to 26506222
Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030
Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ADSSL1.
Gene: adssl1 has been classified as Amber List (Moderate Evidence).
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