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 1.71

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 2: Ophthalmology
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

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, OMIM:617175