CYBC1

cytochrome b-245 chaperone 1
OMIM: 618334, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber CYBC1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Chronic granulomatous disease

Green CYBC1 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert list
Phenotypes
  • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Tags
  • new gene name

Green CYBC1 in Phagocyte Defects


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Tags
  • new gene name

Green CYBC1 in Chronic granulomatous disease


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chronic granulomatous disease
Tags
  • new gene name

Green CYBC1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Tags
  • new gene name
  • treatable
  • immunological