Ataxia and cerebellar anomalies - narrow panel
Gene: CWF19L1

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

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Spinocerebellar ataxia, autosomal recessive 17, 616127

OMIM

616120

Clinvar variants

Variants in CWF19L1

Penetrance

None

Publications

26197978, 25361784, 27016154

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CWF19L1 was added gene: CWF19L1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 26197978, 25361784, 27016154 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, 616127