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  3. RBP4
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Miscellaneous Metabolic Disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Retinol-binding protein (RBP) is a monomeric-binding protein that specifically transports retinol, the alcoholic form of vitamin A, in plasma from its main store site, the liver, to target cells.

At least 4 families with bi-allelic variants and at least 2 families with mono allelic variants. Functional data including animal models.
Sources: Expert list
Created: 7 Feb 2021, 2:47 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated, with coloboma 10, MIM# 616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147

Publications

Created: 7 Feb 2021, 2:47 a.m.

Panel version: 0.272

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microphthalmia, isolated, with coloboma 10, MIM# 616428
  • 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

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBP4 was added gene: RBP4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 9888420; 23189188; 25910211; 32323592; 29847795; 29178648; 27892788 Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, MIM# 616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147 Review for gene: RBP4 was set to GREEN