Retinal disorders
Gene: RBP4
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
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.
Source NHS GMS was added to RBP4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for RBP4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for RBP4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
RBP4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RBP4 was created by ellenmcdonagh