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| Congenital muscular dystrophy v1.44 | COL12A1 | Louise Daugherty Publications for gene COL12A1 were changed from 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; 24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy. to 24334769; 24334604; 27348394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.43 | COL12A1 | Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.24 | COL12A1 | Rachael Mein reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604, 27348394, 24334769; Phenotypes: Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.23 | COL12A1 | Louise Daugherty Source NHS GMS was added to COL12A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.22 | COL12A1 |
Louise Daugherty Source London South GLH was added to COL12A1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Congenital muscular dystrophy | COL12A1 | Ellen McDonagh classified COL12A1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy | COL12A1 | Ellen McDonagh marked COL12A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy | COL12A1 | Emma Clement reviewed COL12A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||