Cerebellar and Pontocerebellar Hypoplasia
Gene: CWF19L1EnsemblGeneIds (GRCh38): ENSG00000095485
EnsemblGeneIds (GRCh37): ENSG00000095485
OMIM: 616120, Gene2Phenotype
CWF19L1 is in 7 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Cerebellar hypoplasia predominantly affecting the vermis (OMIM)
PMID: 26197978 - 1 child with severe cerebellar hypoplasia (see below)
PMID: 25361784 - 1 family (2 siblings) with hypoplasia in the vermis and cerebellar hemispheres. Zebrafish animal model showed defective cerebellar structure and diminished staining
PMID: 27016154 - 1 family (1 child) with early onset cerebellar atrophy, proven by serial MRIs. Authors specify this is NOT hypoplasia, and highlight that PMID: 26197978 incorrectly reported hypoplasia instead of atrophy. Authors also acknowledge that hypoplasia and atrophy may be both occurring. Also notes MRI results from PMID: 15981765 have been published in PMID: 25361784.
PMID: 15981765 - 3 unrelated families (3 sibling pairs) with cerebellar hemisphere and vermis hypoplasia. Described as non-progressive.
Sources: Expert ReviewCreated: 20 Apr 2020, 2:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 17 616127
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 17 616127
- OMIM
- 616120
- Clinvar variants
- Variants in CWF19L1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
(Other)Gene: cwf19l1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cwf19l1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cwf19l1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: CWF19L1 was added gene: CWF19L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to PMID:26197978; 25361784; 27016154; 15981765 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 616127 Review for gene: CWF19L1 was set to GREEN