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Mendeliome

Gene: BEST1

Green List (high evidence)

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

AR disease – LOF missense and PTCs
AD disease – dominant negative missense

Pathogenic missense commonly within the bestrophin domain (Decipher)
Created: 7 Feb 2020, 4:36 a.m. | Last Modified: 7 Feb 2020, 4:36 a.m.
Panel Version: 0.1278

Phenotypes
Bestrophinopathy; Macular dystrophy, vitelliform, 2; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; Retinitis pigmentosa-50; Retinitis pigmentosa, concentric; Vitreoretinochoroidopathy

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bestrophinopathy, autosomal recessive, MIM# 611809
  • Macular dystrophy, vitelliform, 2 MIM# 153700
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM# 193220
  • Retinitis pigmentosa-50, MIM# 613194
  • Retinitis pigmentosa, concentric, MIM# 61319
  • Vitreoretinochoroidopathy,MIM# 193220
OMIM
607854
Clinvar variants
Variants in BEST1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Feb 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).

7 Feb 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: BEST1 was changed from to Other

7 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BEST1 were set to

7 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BEST1 were changed from to Bestrophinopathy, autosomal recessive, MIM# 611809; Macular dystrophy, vitelliform, 2 MIM# 153700; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM# 193220; Retinitis pigmentosa-50, MIM# 613194; Retinitis pigmentosa, concentric, MIM# 61319; Vitreoretinochoroidopathy,MIM# 193220

7 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BEST1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BEST1 was added gene: BEST1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BEST1 was set to Unknown