Activity
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7 actions
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| DDG2P v6.249 | MFSD2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MFSD2A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MFSD2A | Achchuthan Shanmugasundram edited their review of gene: MFSD2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MFSD2A-related primary microcephaly are definitive, biallelic_autosomal and undetermined (PMID:26005865). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01689.; Changed phenotypes to: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486, OMIM:616486.0, MFSD2A-related primary microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFSD2A | Achchuthan Shanmugasundram reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26005865; Phenotypes: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MFSD2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene MFSD2A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.11 | MFSD2A | Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 to Microcephaly 15, primary, autosomal recessive, 616486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MFSD2A | Rebecca Foulger reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MFSD2A |
Rebecca Foulger gene: MFSD2A was added gene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFSD2A were set to 26005865 Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 Mode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments |
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