Vasculitis
Gene: NCF4
Phenotypic overlap -- lupus like skin lesions.Created: 16 Mar 2022, 6:16 a.m. | Last Modified: 16 Mar 2022, 6:16 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
At least 12 unrelated families reported with a milder, atypical form of CGD, and a supporting null mouse model.Created: 15 Mar 2022, 10:01 a.m. | Last Modified: 15 Mar 2022, 10:01 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Publications
Gene: ncf4 has been classified as Green List (High Evidence).
Phenotypes for gene: NCF4 were changed from to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Publications for gene: NCF4 were set to
Mode of inheritance for gene: NCF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: NCF4 was added gene: NCF4 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF4 was set to Unknown