Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | GPHN | Achchuthan Shanmugasundram reviewed gene: GPHN: Rating: RED; Mode of pathogenicity: ; Publications: 11095995, 22040219; Phenotypes: GPHN-related molybdenum cofactor deficiency, OMIM:615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | GPHN |
Achchuthan Shanmugasundram gene: GPHN was added gene: GPHN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPHN were set to 11095995; 22040219 Phenotypes for gene: GPHN were set to GPHN-related molybdenum cofactor deficiency, OMIM:615501 |