PanelApp
  1. Genes and Genomic Entities
  2. RCBTB1

RCBTB1

RCC1 and BTB domain containing protein 1
OMIM: 607867, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RCBTB1 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies, MIM# 617175

Green RCBTB1 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Retinal dystrophy with or without extraocular anomalies MIM#617175

    Green RCBTB1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive

    Red RCBTB1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.391

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Expert list
    Phenotypes
    • Retinal dystrophy with or without extraocular anomalies MIM#617175

    Amber RCBTB1 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Retinal dystrophy with or without extraocular anomalies (MIM#617175)