Description
This panel contains genes that cause chronic granulomatous disease.

Chronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in children.

2 reviewers

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

8 Entities

8 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green Green List (high evidence)
C17orf62
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease
Tags
  • new gene name
Green Green List (high evidence)
CYBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA MIM#233690
Tags
Green Green List (high evidence)
CYBB
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease, X-linked MIM#306400
Tags
Green Green List (high evidence)
G6PD
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hemolytic anemia, G6PD deficient (favism) MIM#300908
Tags
Green Green List (high evidence)
NCF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease 1, autosomal recessive, MIM# 233700
Tags
Green Green List (high evidence)
NCF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710
Tags
Green Green List (high evidence)
NCF4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Tags
Green Green List (high evidence)
NOD2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Blau syndrome MIM#186580
  • granulomatous disease
Tags

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