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Intellectual disability

Gene: CWC27

Green List (high evidence)

CWC27 (CWC27 spliceosome associated protein homolog)
EnsemblGeneIds (GRCh38): ENSG00000153015
EnsemblGeneIds (GRCh37): ENSG00000153015
OMIM: 617170, Gene2Phenotype
CWC27 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. CWC27 is associated with a phenotype in OMIM and Gene2Phenotype. PMID: 28285769 reported on 7 unrelated families (10 affected individuals) with variants in this gene. 8/10 had neurological problems, which include ID, delayed walking, delayed speech or psychomotor retardation. Two cases (same family) are specified as moderate ID and they have indicated severe psychomotor retardation in others. After consulting the Genomics England Clinical Team, it was decided that there is enough evidence to promote this to green status.
Created: 1 Jul 2019, 12:10 p.m. | Last Modified: 1 Jul 2019, 12:10 p.m.
Panel Version: 2.926

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seven families with biallelic variants described in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 10:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa with or without skeletal anomalies

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

1 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cwc27 has been classified as Green List (High Evidence).

26 Jun 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CWC27 were changed from Retinitis pigmentosa with or without skeletal anomalies to Retinitis pigmentosa with or without skeletal anomalies, 250410

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CWC27.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

CWC27 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

CWC27 was created by Zornitza Stark