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| DDG2P v6.17 | PIK3R1 | Achchuthan Shanmugasundram edited their review of gene: PIK3R1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIK3R1-related SHORT syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23810378, 23810379, 28472977). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00179. The DDG2P confidence category, allelic requirement and molecular mechanism for PIK3R1-related agammaglobulinemia are limited, biallelic_autosomal and loss of function (PMID:22351933). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00858.; Changed publications to: 23810378, 22351933, 28472977, 23810379; Changed phenotypes to: SHORT SYNDROME, OMIM:269880, MONDO:0010026, MONDO:0014083, OMIM:615214.0, OMIM:269880.0, PIK3R1-related SHORT syndrome, AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, PIK3R1-related agammaglobulinemia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | PIK3R1 | Achchuthan Shanmugasundram Mode of inheritance for gene PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3R1 | Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23810379, 28472977, 23810378, 22351933; Phenotypes: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, SHORT SYNDROME, OMIM:269880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIK3R1 | Achchuthan Shanmugasundram Publications for gene: PIK3R1 were updated from 22351933 to 23810379; 28472977; 23810378; 22351933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.51 | PIK3R1 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; monoallelic for SHORT SYNDROME. Both syndromes have a Disease confidence rating of 'confirmed'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.51 | PIK3R1 | Rebecca Foulger Mode of inheritance for gene: PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIK3R1 | Rebecca Foulger reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIK3R1 |
Rebecca Foulger Added phenotypes AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214 for gene: PIK3R1 Publications for gene PIK3R1 were changed from 23810378 to 22351933 |
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| DDG2P v0.1 | PIK3R1 |
Rebecca Foulger gene: PIK3R1 was added gene: PIK3R1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to 23810378 Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME 269880 |
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