Structural eye disease
Gene: BEST1Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic for now. However two cases with angle closure glaucoma as part of the phenotype have been reported, so adding the watch list tag.Created: 13 Oct 2021, 12:40 p.m. | Last Modified: 13 Oct 2021, 12:40 p.m.
Panel Version: 1.82
This gene has a mode of inheritance of BOTH monoallelic and biallelic on the Retinal disorders panel. Checking to see if there are any biallelic cases relevant to this panel.
The family reported in PMID: 21473666 (Wittström et al 2011) with Best vitelliform macular dystrophy and microphthalmos and the 5 families reported by PMID: 15452077 (Yardley et al 2004) with nanophthalmos associated with ADVIRC all have monoallelic variants.
Looking at biallelic cases - 2 cases with angle closure glaucoma but otherwise more retina specific phenotypes.
PMID: 18179881 Burgess et al 2008 - report 7 affected individuals from 5 unrelated families of European ethnicity with biallelic variants in BEST1. Phenotype is abnormal full-field ERGs and severe reduction in the electrooculogram (EOG) light rise. 3 out of the 7, from 2 families have angle closure glaucoma.
PMID: 34327816 - Nowomiejska et al 2021 - report 6 patients with either homozygous or compound het variants in BEST1, aswell as 24 patients with heterozygous variants and autosomal recessive bestrophinopathy. The phenotype description does NOT mention structural changes such as micropthalmia, glaucoma, or aniridia.
PMID: 19853238 - Davidson et al 2009 - report a family with autosomal recessive retinitis pigmentosa where the parents were not of a consanguineous marriage, they were from the same village. Affected individuals presented with bilateral macular edema and yellow deposits concentrated at the macula and had a homozygous missense variant.Created: 13 Oct 2021, 12:38 p.m. | Last Modified: 13 Oct 2021, 12:38 p.m.
Panel Version: 1.81
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
Phenotypes for gene: BEST1 were changed from Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Eye Disorders; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 to ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220; Bestrophinopathy, autosomal recessive , OMIM:611809; Macular dystrophy, vitelliform, 2, OMIM:153700; Retinitis pigmentosa, concentric, OMIM:613194; Retinitis pigmentosa-50, OMIM:613194; Vitreoretinochoroidopathy, OMIM:193220
Mode of inheritance for gene: BEST1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag watchlist_moi tag was added to gene: BEST1.
Source NHS GMS was added to BEST1. Source Expert Review Green was added to BEST1. Mode of inheritance for gene BEST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 for gene: BEST1 Publications for gene BEST1 were changed from to 21473666; 15452077 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: BEST1 was added gene: BEST1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BEST1 was set to Phenotypes for gene: BEST1 were set to Eye Disorders