Glaucoma (developmental)
Gene: BEST1
Yardley: 5 families with nanophthalmis; Wittstrom one family; we are aware of another familyCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Vitelliform Macular degeneration 2; Microcornea, rod-cone dystrophy, cataract, and posterior; staphyloma; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa, concentric ; 153700; 193220; 611809; 613194
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Yardley: 5 families with nanophthalmis; Wittstrom one family; we are aware of another familyCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; staphyloma; Bestrophinopathy, autosomal recessive, 611809; Retinitis pigmentosa, concentric, 613194; 193220
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.
BEST1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory