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| DDG2P v6.179 | GEMIN4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GEMIN4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GEMIN4 | Achchuthan Shanmugasundram edited their review of gene: GEMIN4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GEMIN4-related neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities are strong, biallelic_autosomal and undetermined (PMIDs: 25558065, 27878435, 30237576, 35861185). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02994.; Changed publications to: 25558065, 35861185, 27878435, 30237576; Changed phenotypes to: MONDO:0060664, OMIM:617913.0, NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913, GEMIN4-related neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GEMIN4 | Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30237576, 35861185, 27878435, 25558065; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GEMIN4 |
Achchuthan Shanmugasundram gene: GEMIN4 was added gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065 Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913 Mode of pathogenicity for gene: GEMIN4 was set to Other |
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