Hereditary ataxia

Gene: CWF19L1

Green List (high evidence)

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

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Now two families with true loss of function variants. Not on our panel
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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
Complete
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

CWF19L1 was created by jonathan.williams

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

CWF19L1 was added to Hereditary ataxiapanel. Sources: Expert Review