Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | KATNB1 | Achchuthan Shanmugasundram reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25521378, 25521379; Phenotypes: KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | KATNB1 |
Achchuthan Shanmugasundram gene: KATNB1 was added gene: KATNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNB1 were set to 25521378; 25521379 Phenotypes for gene: KATNB1 were set to KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS |