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  3. RBP4
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Ocular coloboma

Gene: RBP4

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

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Predominantly retinitis pigmentosa phenotype but with associated coloboma. Small number of reported cases
Created: 17 Nov 2016, 10:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147

Publications

Created: 17 Nov 2016, 10:29 a.m.

Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
OMIM
180250
Clinvar variants
Variants in RBP4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

17 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

RBP4 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Literature,Emory Genetics Laboratory

17 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

RBP4 was created by agardham