RCBTB1:Ensemblv90

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RCBTB1 in Mendeliome Version 1.3802	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 Retinitis Pigmentosa 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)
Green RCBTB1 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Retinal dystrophy with or without extraocular anomalies MIM#617175
Green RCBTB1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green 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 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert list Expert Review Red Phenotypes Retinal dystrophy with or without extraocular anomalies MIM#617175
Amber RCBTB1 in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Amber Phenotypes Retinal dystrophy with or without extraocular anomalies (MIM#617175)