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Distal myopathies v3.14 ADSSL1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ADSSL1.
Distal myopathies v3.14 ADSSL1 Eleanor Williams reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v3.13 ADSSL1 Achchuthan Shanmugasundram 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)
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ADSSL1.
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are 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.; to: 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.
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.6 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.6 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.6 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Deleted their comment
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.3 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.3 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.3 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 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.
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 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.
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.1 ADSSL1 Achchuthan Shanmugasundram reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26506222, 28268051, 32331917, 32646962, 35668205; Phenotypes: Myopathy, distal, 5, OMIM:617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v1.47 ADSSL1 Arina Puzriakova commented on gene: ADSSL1
Distal myopathies v1.47 ADSSL1 Arina Puzriakova Tag new-gene-name tag was added to gene: ADSSL1.
Distal myopathies v1.15 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v1.15 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v1.14 ADSSL1 Louise Daugherty 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
Added comment: New gene suggested by Anna Sarkozy for inclusion on the Distal myopathy panel
Sources: Expert Review