Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RCBTB1

Green List (high evidence)

RCBTB1 (RCC1 and BTB domain containing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000136144
EnsemblGeneIds (GRCh37): ENSG00000136144
OMIM: 607867, Gene2Phenotype
RCBTB1 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Six families with retinal dystrophy with or without extraocular anomalies with homozygous missense variants. Ocular phenotypes ranged from typical RP starting in the second decade to chorioretinal dystrophy with a later age of onset.
Sources: Expert list
Created: 22 May 2020, 2:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with or without extraocular anomalies MIM#617175

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies MIM#617175
OMIM
607867
Clinvar variants
Variants in RCBTB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rcbtb1 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rcbtb1 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RCBTB1 was added gene: RCBTB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RCBTB1 were set to 27486781 Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies MIM#617175 Review for gene: RCBTB1 was set to GREEN