Glaucoma (developmental)

Gene: RPGRIP1L

Green List (high evidence)

Delous et al. 2007 reported two unrelated cases with Meckel syndrome and anophthalmia, and demonstrated that null mice had absent or small eyes

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome, 216360

Publications

• 19574260

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Delous et al. 2007 reported two unrelated cases with Meckel syndrome and anophthalmia, and demonstrated that null mice had absent or small eyes

Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome, 216360

Publications

• 19574260

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