| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | IHH | Achchuthan Shanmugasundram reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12384778, 12525541, 16871364, 19277064, 18629882, 12632327, 11455389; Phenotypes: BRACHYDACTYLY, TYPE A1, OMIM:112500, ACROCAPITOFEMORAL DYSPLASIA, OMIM:607778; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IHH |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IHH was changed from Other - please provide details in the comments to Other Publications for gene: IHH were updated from 12632327 to 12384778; 12525541; 16871364; 19277064; 18629882; 12632327; 11455389 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.59 | IHH | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for ACROCAPITOFEMORAL DYSPLASIA; confirmed for BRACHYDACTYLY, TYPE A1. Both diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.59 | IHH | Rebecca Foulger Mode of inheritance for gene: IHH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IHH | Rebecca Foulger reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IHH |
Rebecca Foulger Added phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778 for gene: IHH Publications for gene IHH were changed from 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 to 12632327 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IHH |
Rebecca Foulger gene: IHH was added gene: IHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IHH were set to 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1 112500 Mode of pathogenicity for gene: IHH was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||