Cerebral Palsy
Gene: SLC35A2EnsemblGeneIds (GRCh38): ENSG00000102100
EnsemblGeneIds (GRCh37): ENSG00000102100
OMIM: 314375, Gene2Phenotype
SLC35A2 is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with hemizygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Variants cause an epileptic encephalopathy which has been associated with ataxia and hypotonia.
Sources: LiteratureCreated: 24 Jun 2024, 7:04 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type IIm, MIM#300896
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Red
- Phenotypes
-
- Congenital disorder of glycosylation, type IIm, MIM#300896
- OMIM
- 314375
- Clinvar variants
- Variants in SLC35A2
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc35a2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc35a2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: SLC35A2 was added gene: SLC35A2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC35A2 were set to PMID: 38693247 Phenotypes for gene: SLC35A2 were set to Congenital disorder of glycosylation, type IIm, MIM#300896 Review for gene: SLC35A2 was set to RED