Ataxia - paediatric
Gene: CWF19L1

CWF19L1 (CWF19 like 1, cell cycle control (S. pombe))
EnsemblGeneIds (GRCh38): ENSG00000095485
EnsemblGeneIds (GRCh37): ENSG00000095485
OMIM: 616120, Gene2Phenotype
CWF19L1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported, complex SCA, includes ID.
Created: 21 Apr 2020, 8:31 a.m. | Last Modified: 21 Apr 2020, 8:31 a.m.

Panel Version: 0.2562

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay

Publications

Created: 21 Apr 2020, 8:31 a.m.
Last Modified: 21 Apr 2020, 8:31 a.m.
Panel version: Imported from Mendeliome panel version 0.2562

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spinocerebellar ataxia, autosomal recessive 17, 616127
Autosomal recessive spinocerebellar ataxia type 17, 616127

OMIM

616120

Clinvar variants

Variants in CWF19L1

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CWF19L1 was added gene: CWF19L1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, 616127; Autosomal recessive spinocerebellar ataxia type 17, 616127

Ataxia - paediatric Gene: CWF19L1