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  2. Structural eye disease
  3. RBP4
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Structural eye disease

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Seeliger one family; Khan one family; Chou three families plus suggestion that when variant is present in mother vitamin A transport through placenta might be disrupted.
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.
Created: 24 Apr 2019, 12:58 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Seeliger one family; Khan one family; Chou three families plus suggestion that when variant is present in mother vitamin A transport through placenta might be disrupted.
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
OMIM
180250
Clinvar variants
Variants in RBP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rbp4 has been classified as Green List (High Evidence).

24 Apr 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

17 Apr 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RBP4. Added phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 for gene: RBP4 Publications for gene RBP4 were changed from 9888420 to 25910211; 9888420; 27892788

3 Jan 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: RBP4 was added gene: RBP4 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 9888420 Phenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147