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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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologic defects. Night blindness occurs around 10 years of age, followed by restriction of visual fields. Brachydactyly affects primarily the distal phalanges. Craniofacial abnormalities include frontal bossing, downslanting palpebral fissures, large columella, hypoplastic nares, micrognathia, and large low-set ears. Ectodermal involvement (sparse eyebrows and lashes, oligodontia, nail hypoplasia) seen in some patients.
Seen in at least 8 unrelated families, all had protein-truncating mutations, two patients who exhibited a significantly milder extraocular phenotype shared the most C-terminal mutation.
Created: 31 Oct 2024, 3:55 a.m. | Last Modified: 31 Oct 2024, 3:55 a.m.
Panel Version: 1.545

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410

Publications

Created: 31 Oct 2024, 3:55 a.m.
Last Modified: 31 Oct 2024, 3:55 a.m.
Panel version: 1.545

Details

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

History Filter Activity

27 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CWC27 were changed from Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410

27 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CWC27 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CWC27 was added gene: CWC27 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3), Autosomal recessive