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| DDG2P v6.20 | TERT | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TERT was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TERT | Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 16247010, 17785587, 24628319, 25067791, 26546739, 30523342, 32315675, 34890115, 35477117, 35927969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01663. The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (monoallelic) are strong, monoallelic_autosomal and loss of function (PMIDs: 16247010, 25067791, 30523342, 35927969, 38641551). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03384.; Changed publications to: 32315675, 35477117, 35927969, 34890115, 25067791, 16247010, 26546739, 30523342, 24628319, 17785587, 38641551; Changed phenotypes to: OMIM:613989.0, Dyskeratosis Congenita, OMIM:613989, TERT-related dyskeratosis congenita (monoallelic), MONDO:0013521, TERT-related Dyskeratosis congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related dyskeratosis congenita (biallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | TERT | Achchuthan Shanmugasundram Mode of inheritance for gene TERT was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TERT | Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category for the disease Dyskeratosis Congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 16247010;30523342;25067791;35927969). The DDG2P confidence category for the disease TERT-related Dyskeratosis congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 35477117;34890115;26546739;17785587).; Changed publications to: 30523342, 26546739, 35477117, 34890115, 16247010, 25067791, 17785587, 35927969; Changed phenotypes to: Dyskeratosis Congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related Dyskeratosis congenita, OMIM:613989; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TERT | Achchuthan Shanmugasundram reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17785587; Phenotypes: Dyskeratosis congenita, autosomal recessive 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TERT | Achchuthan Shanmugasundram Mode of pathogenicity for gene TERT was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TERT | Rebecca Foulger reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TERT |
Rebecca Foulger gene: TERT was added gene: TERT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TERT were set to 17785587 Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4 Mode of pathogenicity for gene: TERT was set to Other - please provide details in the comments |
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