Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: C2orf71

Green List (high evidence)

C2orf71 (chromosome 2 open reading frame 71)
EnsemblGeneIds (GRCh38): ENSG00000179270
EnsemblGeneIds (GRCh37): ENSG00000179270
OMIM: 613425, Gene2Phenotype
C2orf71 is in 2 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 54
Tags
new gene name
OMIM
613425
Clinvar variants
Variants in C2orf71
Penetrance
None
Panels with this gene

History Filter Activity

7 May 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: C2orf71.

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: C2orf71 was added gene: C2orf71 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2orf71 were set to Retinitis pigmentosa 54