Activity
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6 actions
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| DDG2P v6.260 | MYLPF | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYLPF was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.13 | MYLPF | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: MYLPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYLPF | Achchuthan Shanmugasundram reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32707087; Phenotypes: MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYLPF |
Achchuthan Shanmugasundram gene: MYLPF was added gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic) Mode of pathogenicity for gene: MYLPF was set to Other |
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