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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 2:52 p.m.
DDG2P rating in original PAGE list: Confirmed for Retinitis pigmentosa, skeletal anomalies and intellectual disability
Created: 11 Dec 2018, 9:04 a.m.



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
  • Retinitis pigmentosa, skeletal anomalies and intellectual disability
Clinvar variants
Variants in CWC27
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene CWC27 were changed from to 28285769

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CWC27 was added gene: CWC27 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability