Structural eye disease
Gene: RBP4
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
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
Gene: rbp4 has been classified as Green List (High Evidence).
Mode of inheritance for gene: RBP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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