Arthrogryposis
Gene: ACTC1
Comment on list classification: There is sufficient evidence (five unrelated families) available in support of the association of ACTC1 with distal arthrogryposis and hence this gene can be promoted to green rating in the next GMS review.Created: 11 Oct 2023, 6:07 p.m. | Last Modified: 11 Oct 2023, 6:07 p.m.
Panel Version: 5.17
Eight individuals from five unrelated families were identified with five different heterozygous missense variants in ACTC1 gene and they were reported with distal arthrogryposis. The clinical presentations included multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy, short stature.
This gene has been associated with cardiac phenotypes in both OMIM and Gene2Phenotype, but not yet with distal arthrogryposis in either resources.
Sources: LiteratureCreated: 11 Oct 2023, 6:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
distal arthrogryposis, MONDO:0019942
Publications
Gene: actc1 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: ACTC1.
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 37457373 Phenotypes for gene: ACTC1 were set to distal arthrogryposis, MONDO:0019942 Review for gene: ACTC1 was set to GREEN