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| DDG2P v3.12 | TBX18 | Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 26235987; Phenotypes: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, OMIM:143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX15 | Achchuthan Shanmugasundram reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: ; Publications: 24039145, 19068278; Phenotypes: Cousin Syndrome, Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature, OMIM:260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX1 | Achchuthan Shanmugasundram reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14585638; Phenotypes: 22Q11.2 DELETION SYNDROME, OMIM:188400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBX18 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TBX18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TBX15 | Achchuthan Shanmugasundram Publications for gene: TBX15 were updated from 19068278; 24039145 to 24039145; 19068278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX18 | Rebecca Foulger reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX15 | Rebecca Foulger reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX1 | Rebecca Foulger reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TBX18 |
Rebecca Foulger gene: TBX18 was added gene: TBX18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX18 were set to 26235987 Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400 |
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| DDG2P v0.1 | TBX15 |
Rebecca Foulger gene: TBX15 was added gene: TBX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX15 were set to 19068278; 24039145 Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome |
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| DDG2P v0.1 | TBX1 |
Rebecca Foulger gene: TBX1 was added gene: TBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX1 were set to 14585638 Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME 188400 |
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