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| Arthrogryposis v6.3 | ACTC1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ACTC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v6.3 | ACTC1 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v6.3 | ACTC1 | Achchuthan Shanmugasundram commented on gene: ACTC1: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v6.2 | ACTC1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ACTC1. Source Expert Review Green was added to ACTC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Arthrogryposis v5.17 | ACTC1 | Achchuthan Shanmugasundram Classified gene: ACTC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.17 | ACTC1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.17 | ACTC1 | Achchuthan Shanmugasundram Gene: actc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.16 | ACTC1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ACTC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.16 | ACTC1 |
Achchuthan Shanmugasundram 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 Added comment: 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 |
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