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  3. CWF19L1
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Cerebellar hypoplasia

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 9 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Not on G2P/UKGTN. Identified in three affected families. Supported by animal model
Created: 14 Nov 2016, 12:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, 616127

Publications

Created: 14 Nov 2016, 12:49 p.m.

Panel version: 0.70

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
OMIM
616120
Clinvar variants
Variants in CWF19L1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

CWF19L1 was added to Cerebellar hypoplasiapanel. Sources: Literature

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CWF19L1 was created by agardham