Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CWC27

Green List (high evidence)

CWC27 (CWC27 spliceosome associated protein homolog)
EnsemblGeneIds (GRCh38): ENSG00000153015
EnsemblGeneIds (GRCh37): ENSG00000153015
OMIM: 617170, Gene2Phenotype
CWC27 is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
OMIM
617170
Clinvar variants
Variants in CWC27
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: CWC27 was added gene: CWC27 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410