Congenital myopathy
Gene: ASCC3EnsemblGeneIds (GRCh38): ENSG00000112249
EnsemblGeneIds (GRCh37): ENSG00000112249
OMIM: 614217, Gene2Phenotype
ASCC3 is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
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)Created: 3 Apr 2024, 11:24 a.m. | Last Modified: 3 Apr 2024, 11:24 a.m.
Panel Version: 4.37
Eleanor Williams (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
- 21937992
- https://doi.org/10.1016/j.xhgg.2021.100024
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
- OMIM
- 614217
- Clinvar variants
- Variants in ASCC3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ASCC3 were set to 21937992; 35047834
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ASCC3 were changed from congenital myopathy, MONDO:0019952 to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked was removed from gene: ASCC3.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: ASCC3.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_rating was removed from gene: ASCC3.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)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)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ascc3 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating tag was added to gene: ASCC3.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ASCC3 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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