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Congenital myopathy v4.37 | ASCC3 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Intellectual developmental disorder, autosomal recessive 81, OMIM:620700) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v4.37 | ASCC3 | Arina Puzriakova Phenotypes for gene: ASCC3 were changed from congenital myopathy, MONDO:0019952 to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v4.36 | ASCC3 | Arina Puzriakova Tag gene-checked was removed from gene: ASCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.124 | ASCC3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.17 | ASCC3 | Arina Puzriakova Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.14 | ASCC3 | Eleanor Williams Tag Q3_21_rating was removed from gene: ASCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.14 | ASCC3 | Eleanor Williams reviewed gene: ASCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.13 | ASCC3 |
Eleanor Williams Source Expert Review Green was added to ASCC3. Source NHS GMS was added to ASCC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Congenital myopathy v2.56 | ASCC3 | Ivone Leong Classified gene: ASCC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.56 | ASCC3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (possible gene-disease association) but not OMIM. There is enough evidence for this gene to be Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.56 | ASCC3 | Ivone Leong Gene: ascc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.55 | ASCC3 | Ivone Leong Tag Q3_21_rating tag was added to gene: ASCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.47 | ASCC3 | Ivone Leong Phenotypes for gene: ASCC3 were changed from congenital myopathy to congenital myopathy, MONDO:0019952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.28 | ASCC3 |
Zornitza Stark gene: ASCC3 was added gene: ASCC3 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024 Phenotypes for gene: ASCC3 were set to congenital myopathy Review for gene: ASCC3 was set to GREEN Added comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue. Sources: Literature |