Congenital myopathy
Gene: ASCC3Comment 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)Created: 3 Apr 2024, 11:24 a.m. | Last Modified: 3 Apr 2024, 11:24 a.m.
Panel Version: 4.37
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.
Panel Version: 3.14
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.Created: 12 Jul 2021, 12:26 p.m. | Last Modified: 12 Jul 2021, 12:26 p.m.
Panel Version: 2.56
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: LiteratureCreated: 5 Mar 2021, 6:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Publications
Phenotypes for gene: ASCC3 were changed from congenital myopathy, MONDO:0019952 to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
Tag gene-checked was removed from gene: ASCC3.
Tag gene-checked tag was added to gene: ASCC3.
Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Tag Q3_21_rating was removed from gene: ASCC3.
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)
Gene: ascc3 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: ASCC3.
Phenotypes for gene: ASCC3 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
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