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Retinal disorders

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 2 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Coppetiers 2016
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. RCBTB1 is associated with a phenotype in OMIM but not in Gene2Phenotype.
PMID: 27486781 reported on two unrelated Taiwanese families with heterozygous frameshift variants that are suspected to be associated with Familial exudative vitreoretinopathy.
PMID: 27486781 reported on 6 unrelated families (Turkish, Italian, Greek, Algerian and Chinese) affected by retinal dystrophy with different homozygous variants in the RCBTB1 gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Created: 3 Apr 2019, 9:45 a.m.

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: New publication, only 2 families, both showing reduced penetrance. Await further evidence.
Created: 17 Jun 2016, 2:07 p.m.

Details

Mode of Inheritance
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
OMIM
607867
Clinvar variants
Variants in RCBTB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RCBTB1. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

3 Apr 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RCBTB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Apr 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RCBTB1 were set to 26908610

2 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease to familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175

2 Apr 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RCBTB1 were set to PMID: 26908610

17 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RCBTB1 was added to Posterior segment abnormalitiespanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RCBTB1 was created by ellenmcdonagh