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Retinal disorders

Gene: RBP4

Green List (high evidence)
RBP4 (retinol binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000138207
EnsemblGeneIds (GRCh37): ENSG00000138207
OMIM: 180250, Gene2Phenotype
RBP4 is in 8 panels

3 reviews

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

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinol dystrophy, iris coloboma, and comedogenic acne syndrome

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:30 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Comment on mode of inheritance: Biallelic for Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, monoallelic for Microphthalmia, isolated, with coloboma 10.
Created: 22 Mar 2016, 2:15 p.m.
Created: 22 Mar 2016, 2:15 p.m.

Panel version: 0.108

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Congenital Stationary Night Blindness
  • Retinitis pigmentosa
OMIM
180250
Clinvar variants
Variants in RBP4
Penetrance
Complete
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 RBP4. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RBP4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RBP4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RBP4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RBP4 was created by ellenmcdonagh