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| DDG2P v6.17 | MYLPF | Achchuthan Shanmugasundram edited their review of gene: MYLPF: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYL11-related arthrogryposis, distal are strong, biallelic_autosomal and undetermined (PMID:32707087). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03032. The DDG2P confidence category, allelic requirement and molecular mechanism for MYL11-related arthrogryposis, distal are limited, monoallelic_autosomal and undetermined (PMID:32707087). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03033.; Changed phenotypes to: MYL11-related arthrogryposis, distal, MYLPF arthrogryposis (biallelic), OMIM:619110.0, MYLPF arthrogryposis (monoallelic), MONDO:0030847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | MYLPF | Achchuthan Shanmugasundram commented on gene: MYLPF: Added new-gene-name tag, new approved HGNC gene symbol for MYLPF is MYL11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYL1 | Achchuthan Shanmugasundram reviewed gene: MYL1: Rating: RED; Mode of pathogenicity: ; Publications: 30215711; Phenotypes: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYL1 |
Achchuthan Shanmugasundram gene: MYL1 was added gene: MYL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30215711 Phenotypes for gene: MYL1 were set to MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414 |
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