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| Congenital myopathy v4.26 | ADSSL1 | Achchuthan Shanmugasundram edited their review of gene: ADSSL1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.26 | ADSSL1 |
Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in majority of reported cases. Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients (PMID:35668205). However, the review of previously reported patients in PMID:28268051 described patients with early childhood onset, with the youngest patient reported at 5 years of age. PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype,; to: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in the reported cases. Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients (PMID:35668205). Patients reported in PMIDs: 26506222 & 28268051 developed diffuse muscle weakness initially around 5-8 years of age, although distal leg weakness started at adolescence (13-17 years of age). PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype. As the diffuse muscle weakness started at childhood in at least nine cases and there is a case with congenital joint contractures, and this gene was added green as per expert review, we should keep this gene green on this panel. |
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| Congenital myopathy v4.26 | ADSSL1 |
Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in majority of reported cases. Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients. However, the review of previously reported patients in PMID:28268051 described patients with early childhood onset, with the youngest patient reported at 5 years of age. PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype,; to: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in majority of reported cases. Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients (PMID:35668205). However, the review of previously reported patients in PMID:28268051 described patients with early childhood onset, with the youngest patient reported at 5 years of age. PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype, |
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| Congenital myopathy v4.26 | ADSSL1 | Achchuthan Shanmugasundram reviewed gene: ADSSL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26506222, 28268051, 31680123, 32331917, 32646962, 35668205; Phenotypes: Myopathy, distal, 5, OMIM:617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.16 | ADSSL1 | Arina Puzriakova Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.83 | ADSSL1 | Arina Puzriakova commented on gene: ADSSL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.83 | ADSSL1 | Arina Puzriakova Tag new-gene-name tag was added to gene: ADSSL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | ADSSL1 | Zornitza Stark changed review comment from: Onset is specifically in adolescence so not appropriate for congenital panel.; to: Onset is in late childhood/adolescence so not appropriate for congenital panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | ADSSL1 | Zornitza Stark edited their review of gene: ADSSL1: Changed publications: 26506222, 32331917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | ADSSL1 | Zornitza Stark reviewed gene: ADSSL1: Rating: RED; Mode of pathogenicity: None; Publications: 26506222; Phenotypes: Myopathy, distal, 5, MIM# 617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.234 | ADSSL1 | Louise Daugherty Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5 to Myopathy, distal, 5, 617030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.232 | ADSSL1 | Louise Daugherty Classified gene: ADSSL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.232 | ADSSL1 | Louise Daugherty Added comment: Comment on list classification: New Green gene suggested by Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) for R81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.232 | ADSSL1 | Louise Daugherty Gene: adssl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.231 | ADSSL1 | Louise Daugherty Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.223 | ADSSL1 |
Anna Sarkozy 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 Added comment: 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 |
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