Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: CWC27

Green List (high evidence)

CWC27 (CWC27 spliceosome associated protein homolog)
EnsemblGeneIds (GRCh38): ENSG00000153015
EnsemblGeneIds (GRCh37): ENSG00000153015
OMIM: 617170, Gene2Phenotype
CWC27 is in 5 panels

2 reviews

Simon Ramsden (NHS)

Green List (high evidence)

Ivone Leong (Genomics England Curator)

Green List (high evidence)

CWC27 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with retinitis pigmentosa who has variants in the CWC27 gene.
Created: 3 Apr 2019, 3:27 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
OMIM
617170
Clinvar variants
Variants in CWC27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CWC27 was added gene: CWC27 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWC27 were set to 28285769 Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410