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  3. CWF19L1
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Fetal anomalies

Gene: CWF19L1

Amber List (moderate evidence)
CWF19L1 (CWF19 like 1, cell cycle control (S. pombe))
EnsemblGeneIds (GRCh38): ENSG00000095485
EnsemblGeneIds (GRCh37): ENSG00000095485
OMIM: 616120, Gene2Phenotype
CWF19L1 is in 9 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

I don't know

Retrospective testing of TOP with small cerebellum, agenesis of corpus callosum, hexadactyly and vertebral malformations. Living child with cerebellar ataxia and progressive cerebellar atrophy. Consanguineous parents. Amber to keep watch on prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127
OMIM
616120
Clinvar variants
Variants in CWF19L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CWF19L1 was added gene: CWF19L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 27016154 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127