Genomics England
GMS Panels
Panels
Genes and Entities

CWC27

CWC27 spliceosome associated protein homolog
OMIM: 617170
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, skeletal anomalies and intellectual disability
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, skeletal anomalies and intellectual disability
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa with or without skeletal anomalies, 250410
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa with or without skeletal anomalies, 250410