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| DDG2P v6.197 | HECW2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HECW2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HECW2 | Achchuthan Shanmugasundram edited their review of gene: HECW2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 27334371, 27389779, 29395664, 29807643, 32814609, 33205896, 34047014, 34321324, 34327820, 35987951, 37280227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01893. The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (biallelic) are limited, biallelic_autosomal and undetermined (PMIDs: 35487419, 35753050). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03392.; Changed publications to: 29395664, 29807643, 35987951, 33205896, 35753050, 34327820, 27334371, 27389779, 34321324, 37280227, 35487419, 34047014, 32814609; Changed phenotypes to: HECW2-related neurodevelopmental disorder (monoallelic), HECW2-associated neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, OMIM:617268, HECW2-related neurodevelopmental disorder (biallelic), OMIM:617268.0, MONDO:0014995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HECW2 | Achchuthan Shanmugasundram reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35753050, 34321324, 27334371, 27389779; Phenotypes: HECW2-associated neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, OMIM:617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HECW2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HECW2 was changed from Other - please provide details in the comments to Other Publications for gene: HECW2 were updated from 27334371; 27389779 to 35753050; 34321324; 27334371; 27389779 |
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| DDG2P v0.50 | HECW2 | Rebecca Foulger commented on gene: HECW2: Curated DDG2P update on Jan 21st 2019: Changed phenotype from 'HECW2' to 'Neurodevelopmental disorder with hypotonia, seizures, and absent language'. Rating remains as: confirmed. MOI remains as: monoallelic. MOP remains as: all missense/in frame. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.50 | HECW2 | Rebecca Foulger Phenotypes for gene: HECW2 were changed from HECW2 to Neurodevelopmental disorder with hypotonia, seizures, and absent language | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HECW2 | Rebecca Foulger reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HECW2 |
Rebecca Foulger gene: HECW2 was added gene: HECW2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27334371; 27389779 Phenotypes for gene: HECW2 were set to HECW2 Mode of pathogenicity for gene: HECW2 was set to Other - please provide details in the comments |
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