DDG2P
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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 26197978;25361784;27016154;36453471;33012273).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy

OMIM

616120

Clinvar variants

Variants in CWF19L1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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 DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 25361784; 33012273; 27016154; 26197978; 36453471 Phenotypes for gene: CWF19L1 were set to CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy

DDG2P Gene: CWF19L1