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  3. BEST1
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Corneal abnormalities

Gene: BEST1

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

2 reviews

Chris Campbell (GEL)

Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel.
Created: 3 Mar 2017, 9:35 a.m.
Created: 3 Mar 2017, 9:35 a.m.

Panel version: 0.196

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Not enough evidence for role in corneal abnormalities to date.
Created: 22 Feb 2017, 9:59 a.m.
Created: 22 Feb 2017, 9:59 a.m.

Panel version: 0.126

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Best Vitelliform Macular Dystrophy (BVMD), Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC), Additional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber, Autosomal Recessive Bestrophinopathy (ARB)
  • Best macular dystrophy, 153700
OMIM
607854
Clinvar variants
Variants in BEST1
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Red List (Low Evidence).

22 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BEST1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BEST1 was added to Corneal abnormalitiespanel. Sources: Emory Genetics Laboratory