Glaucoma (developmental)

Gene: RBP4

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

• 9888420
• 27892788
• 25910211

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

• 9888420
• 27892788
• 25910211

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