Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: REEP6

Green List (high evidence)

REEP6 (receptor accessory protein 6)
EnsemblGeneIds (GRCh38): ENSG00000115255
EnsemblGeneIds (GRCh37): ENSG00000115255
OMIM: 609346, Gene2Phenotype
REEP6 is in 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 77
OMIM
609346
Clinvar variants
Variants in REEP6
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: REEP6 was added gene: REEP6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77