Vitreoretinopathy
Gene: BEST1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This gene is associated with a range of ocular phenotypes, primarily affecting the retina, but this specific phenotype can affect the vitreous.
Created: 22 Jan 2020, 11:57 p.m. | Last Modified: 22 Jan 2020, 11:57 p.m.

Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vitreoretinochoroidopathy, MIM# 193220

Created: 22 Jan 2020, 11:57 p.m.
Last Modified: 22 Jan 2020, 11:57 p.m.
Panel version: Imported from Stickler Syndrome and Vitreoretinopathy panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Vitreoretinochoroidopathy, MIM# 193220

OMIM

607854

Clinvar variants

Variants in BEST1

Penetrance

None

Panels with this gene

History Filter Activity

4 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: best1 has been classified as Green List (High Evidence).

4 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

gene: BEST1 was added gene: BEST1 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BEST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BEST1 were set to Vitreoretinochoroidopathy, MIM# 193220

Vitreoretinopathy Gene: BEST1