Glaucoma (developmental)
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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
RBP4 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory