| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | GDF11 | Achchuthan Shanmugasundram reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF1 | Achchuthan Shanmugasundram reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144877, 17924340, 20413652, 28991257, 33131162; Phenotypes: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6, OMIM:613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GDF11 |
Achchuthan Shanmugasundram gene: GDF11 was added gene: GDF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GDF11 were set to 31215115; 34113007 Phenotypes for gene: GDF11 were set to GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GDF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GDF1. Mode of inheritance for gene GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF1 were updated from to 32144877; 17924340; 20413652; 28991257; 33131162 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDF1 | Rebecca Foulger reviewed gene: GDF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF1 | Rebecca Foulger Added phenotypes CONOTRUNCAL HEART MALFORMATIONS 217095 for gene: GDF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF1 | Rebecca Foulger Added phenotypes TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 for gene: GDF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF1 |
Rebecca Foulger gene: GDF1 was added gene: GDF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF1 were set to TETRALOGY OF FALLOT 187500 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||