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Retinal disorders

Gene: BEST1

Green List (high evidence)

BEST1 (bestrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000167995
EnsemblGeneIds (GRCh37): ENSG00000167995
OMIM: 607854, Gene2Phenotype
BEST1 is in 5 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.
UKGTN source has Best macular atrophy, Microcornea, rod- cone dystrophy, cataract, and posterior staphyloma, Retinitis pigmentosa, concentric, Retinitis pigmentosa-50, Vitelliform macular dystrophy, adult- onset, Vitreoretinochoroid opathy as autosomal dominant, and Bestrophinopathy as autosomal recessive.
Created: 26 Apr 2016, 12:39 p.m.
Rated green on the Inherited macular dystrophy panel (Version 0) by Andrew Webster (Moorfields Eye Hospital).
Created: 18 Apr 2016, 12:42 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Best macular atrophy (AD)
  • Bestrophinopathy (AR)
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD)
  • Retinitis pigmentosa, concentric (AD)
  • Retinitis pigmentosa-50 (AD)
  • Vitelliform macular dystrophy, adult-onset (AD)
  • Vitreoretinochoroidopathy (AD)
  • Best macular dystrophy, 153700
  • Maculopathy, bull's-eye
  • Vitelliform macular dystrophy, adult-onset, 608161
  • Bestrophinopathy, 611809
  • Vitreoretinochoroidopathy, 193220
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
  • Best Vitelliform Macular Dystrophy
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Best macular dystrophy, 153700
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Macular Dystrophy, Vitelliform
  • VMD
  • Macular Dystrophy, Vitelliform, Adult-Onset
  • Best macular dystrophy
OMIM
607854
Clinvar variants
Variants in BEST1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BEST1. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene BEST1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Best macular atrophy (AD); Bestrophinopathy (AR); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD); Retinitis pigmentosa, concentric (AD); Retinitis pigmentosa-50 (AD); Vitelliform macular dystrophy, adult-onset (AD); Vitreoretinochoroidopathy (AD); Best macular dystrophy, 153700; Maculopathy, bull's-eye; Vitelliform macular dystrophy, adult-onset, 608161; Bestrophinopathy, 611809; Vitreoretinochoroidopathy, 193220; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1;Best Vitelliform Macular Dystrophy;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Best macular dystrophy, 153700; Maculopathy, bull's-eye; Vitelliform macular dystrophy, adult-onset, 608161; Bestrophinopathy, 611809; Vitreoretinochoroidopathy, 193220; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1;Macular Dystrophy/Degeneration/Stargardt Disease;Macular Dystrophy, Vitelliform; VMD;Macular Dystrophy, Vitelliform, Adult-Onset;Best macular dystrophy

24 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene BEST1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy;Best macular atrophy (AD); Bestrophinopathy (AR); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD); Retinitis pigmentosa, concentric (AD); Retinitis pigmentosa-50 (AD); Vitelliform macular dystrophy, adult-onset (AD); Vitreoretinochoroidopathy (AD);;Best macular dystrophy, 153700Maculopathy, bull's-eyeVitelliform macular dystrophy, adult-onset, 608161Bestrophinopathy, 611809Vitreoretinochoroidopathy, 193220Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1;Best Vitelliform Macular Dystrophy;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Best macular dystrophy, 153700; Maculopathy, bull's-eye; Vitelliform macular dystrophy, adult-onset, 608161; Bestrophinopathy, 611809; Vitreoretinochoroidopathy, 193220; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1;Macular Dystrophy/Degeneration/Stargardt Disease;Macular Dystrophy, Vitelliform; VMD;Macular Dystrophy, Vitelliform, Adult-Onset;Best macular dystrophy

24 Mar 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

BEST1 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing

21 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BEST1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BEST1 was created by ellenmcdonagh