Arthrogryposis
Gene: ACTC1EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 12 panels
1 review
Lilian Downie (Victorian Clinical Genetics Services)
5 new families (8 individuals) with a distral arthrogryposis phenotype:
multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy, short stature
All missense variants
One variant p.Arg185Trp previously reported in patient with cardiac phenotype only
Sources: LiteratureCreated: 6 Apr 2023, 2:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MONDO:0019942 ACTC1 related distal arthrogrypsis
Publications
- PMID: 36945405
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- MONDO:0019942 ACTC1 related distal arthrogrypsis
- OMIM
- 102540
- Clinvar variants
- Variants in ACTC1
- Penetrance
- Incomplete
- Publications
-
- PMID: 36945405
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Lilian Downie (Victorian Clinical Genetics Services)gene: ACTC1 was added gene: ACTC1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTC1 were set to PMID: 36945405 Phenotypes for gene: ACTC1 were set to MONDO:0019942 ACTC1 related distal arthrogrypsis Penetrance for gene: ACTC1 were set to Incomplete Review for gene: ACTC1 was set to GREEN