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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. RBP4
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RBP4

Green List (high evidence)
RBP4 (retinol binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000138207
EnsemblGeneIds (GRCh37): ENSG00000138207
OMIM: 180250, Gene2Phenotype
RBP4 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least three families reported with arRP
Sources: Expert list
Created: 22 May 2020, 1:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 May 2020, 1:41 a.m.

Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
OMIM
180250
Clinvar variants
Variants in RBP4
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: rbp4 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: rbp4 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: RBP4 was added gene: RBP4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 23189188; 9888420; 32323592 Phenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147 Review for gene: RBP4 was set to GREEN