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| DDG2P v3.12 | PTH1R | Achchuthan Shanmugasundram reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 9745456, 8703170, 15240651, 17164305, 3975110, 7701349, 10487664, 15525660, 10523019, 19061984, 9649554; Phenotypes: PRIMARY FAILURE OF TOOTH ERUPTION, OMIM:125350, CHONDRODYSPLASIA BLOMSTRAND TYPE, OMIM:215045, JANSEN METAPHYSEAL CHONDRODYSPLASIA, OMIM:156400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTH1R | Achchuthan Shanmugasundram Publications for gene: PTH1R were updated from 10523019; 17164305; 3975110; 9649554; 9745456 to 9745456; 8703170; 15240651; 17164305; 3975110; 7701349; 10487664; 15525660; 10523019; 19061984; 9649554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.50 | PTH1R | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for CHONDRODYSPLASIA BLOMSTRAND TYPE; biallelic for EIKEN SKELETAL DYSPLASIA; monoallelic for ANSEN METAPHYSEAL CHONDRODYSPLASIA; monoallelic for PRIMARY FAILURE OF TOOTH ERUPTION. All diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.50 | PTH1R | Rebecca Foulger Mode of inheritance for gene: PTH1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PTH1R | Rebecca Foulger reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTH1R |
Rebecca Foulger Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE 215045 for gene: PTH1R Publications for gene PTH1R were changed from 15525660 to 10523019; 17164305; 3975110; 9649554; 9745456 |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger Added phenotypes EIKEN SKELETAL DYSPLASIA 600002 for gene: PTH1R Publications for gene PTH1R were changed from 7701349; 10487664; 8703170; 15240651 to 15525660 |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400 for gene: PTH1R Publications for gene PTH1R were changed from 19061984 to 7701349; 10487664; 8703170; 15240651 |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger gene: PTH1R was added gene: PTH1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 19061984 Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION 125350 |
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