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| DDG2P v6.290 | PIP5K1C | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIP5K1C was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIP5K1C | Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIP5K1C-related lethal congenital contracture syndrome are limited, biallelic_autosomal and undetermined (PMID:17701898). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00274. The DDG2P confidence category, allelic requirement and molecular mechanism for PIP5K1C-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:37451268). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03467.; Changed publications to: 37451268, 17701898; Changed phenotypes to: PIP5K1C-related neurodevelopmental disorder, OMIM:611369.0, PIP5K1C-associated neurodevelopmental disorder, MONDO:0012656, MONDO:0700092, PIP5K1C-related lethal congenital contracture syndrome, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PIP5K1C | Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category for the disease PIP5K1C-associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37451268). The DDG2P confidence category for the disease LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure.; Changed rating: GREEN; Changed publications to: 37451268; Changed phenotypes to: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369, PIP5K1C-associated neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | PIP5K1C |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C. Mode of inheritance for gene PIP5K1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | PIP5K1C | Achchuthan Shanmugasundram reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIP5K1C | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIP5K1C was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIP5K1C | Rebecca Foulger reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIP5K1C |
Rebecca Foulger gene: PIP5K1C was added gene: PIP5K1C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIP5K1C were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 611369 Mode of pathogenicity for gene: PIP5K1C was set to Other - please provide details in the comments |
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