RCBTB1

RCC1 and BTB domain containing protein 1
OMIM: 607867, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RCBTB1 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies 617175

Green RCBTB1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • familial exudative vitreoretinopathy
  • Coats disease
  • Retinal dystrophy with or without extraocular anomalies, 617175