Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CDHR1

Green List (high evidence)

CDHR1 (cadherin related family member 1)
EnsemblGeneIds (GRCh38): ENSG00000148600
EnsemblGeneIds (GRCh37): ENSG00000148600
OMIM: 609502, Gene2Phenotype
CDHR1 is in 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-Rod Dystrophy, Recessive
  • Retinitis pigmentosa 65
  • Cone-rod dystrophy 15, 613660
OMIM
609502
Clinvar variants
Variants in CDHR1
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: CDHR1 was added gene: CDHR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDHR1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-Rod Dystrophy, Recessive; Retinitis pigmentosa 65; Cone-rod dystrophy 15, 613660