Arthrogryposis

Gene: ACTC1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 5:55 p.m. | Last Modified: 4 May 2024, 5:56 p.m.

Panel Version: 6.3

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: Literature

Created: 11 Oct 2023, 6:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
distal arthrogryposis, MONDO:0019942

Publications

• 37457373