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  2. Retinitis pigmentosa_Autosomal Dominant
  3. BEST1
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Retinitis pigmentosa_Autosomal Dominant

Gene: BEST1

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

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
  • Maculopathy, bull's-eye
  • Best Vitelliform Macular Dystrophy
  • Best macular dystrophy, 153700
  • Vitreoretinochoroidopathy, 193220
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Bestrophinopathy, 611809
  • Vitelliform macular dystrophy, adult-onset, 608161
OMIM
607854
Clinvar variants
Variants in BEST1
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BEST1 was added gene: BEST1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BEST1 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1; Maculopathy, bull's-eye; Best Vitelliform Macular Dystrophy; Best macular dystrophy, 153700; Vitreoretinochoroidopathy, 193220; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Bestrophinopathy, 611809; Vitelliform macular dystrophy, adult-onset, 608161