Cerebral Palsy
Gene: ST3GAL5EnsemblGeneIds (GRCh38): ENSG00000115525
EnsemblGeneIds (GRCh37): ENSG00000115525
OMIM: 604402, Gene2Phenotype
ST3GAL5 is in 12 panels
1 review
Luisa Weiss (University of Adelaide)
Several reports on patients with different forms of CP (dystonic, quadriplegic or spastic) later found to harbor biallelic ST3GAL5 mutations. One patient in a larger CP cohort (34540776) with a homozygous VUS, others with pathogenic mutations. Note that the patients which were presented with photographs all showed cutaneous abnormalities as well.
Sources: LiteratureCreated: 31 Jul 2023, 11:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salt and pepper developmental regression syndrome MIM#609056
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Salt and pepper developmental regression syndrome MIM#609056
- OMIM
- 604402
- Clinvar variants
- Variants in ST3GAL5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: st3gal5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: st3gal5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: ST3GAL5 was added gene: ST3GAL5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL5 were set to 34540776; 30185102; 25131622; 24026681 Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome MIM#609056 Review for gene: ST3GAL5 was set to GREEN