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| DDG2P v6.395 | TSHR | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSHR was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TSHR | Achchuthan Shanmugasundram edited their review of gene: TSHR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hypothyroidism, congenital, nongoitrous are definitive, biallelic_autosomal and undetermined (PMIDs: 10720030, 11095460, 12050212, 7528344, 8954020, 9100579, 9185526, 9329388, 9589691). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01099. The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hyperthyroidism, familial gestational are definitive, monoallelic_autosomal and gain of function (PMID:9854118). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01423.; Changed publications to: 12050212, 10720030, 9100579, 9185526, 9329388, 8954020, 9854118, 11095460, 7528344, 9589691; Changed phenotypes to: TSHR-related hypothyroidism, congenital, nongoitrous, MONDO:0011309, OMIM:603373.0, HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, TSHR-related hyperthyroidism, familial gestational, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200, MONDO:0010142, OMIM:275200.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSHR | Achchuthan Shanmugasundram reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9100579, 9589691, 7528344, 9329388, 9185526, 8954020, 11095460, 12050212, 10720030, 9854118; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TSHR |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TSHR was changed from Other - please provide details in the comments to Other Publications for gene: TSHR were updated from 9854118 to 9100579; 9589691; 7528344; 9329388; 9185526; 8954020; 11095460; 12050212; 10720030; 9854118 |
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| DDG2P v0.2 | TSHR | Rebecca Foulger reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TSHR |
Rebecca Foulger Added phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373 for gene: TSHR Publications for gene TSHR were changed from 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 to 9854118 |
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| DDG2P v0.1 | TSHR |
Rebecca Foulger gene: TSHR was added gene: TSHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TSHR were set to 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200 Mode of pathogenicity for gene: TSHR was set to Other - please provide details in the comments |
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