Cerebral Palsy
Gene: SONEnsemblGeneIds (GRCh38): ENSG00000159140
EnsemblGeneIds (GRCh37): ENSG00000159140
OMIM: 182465, Gene2Phenotype
SON is in 8 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals with mono-allelic LOF (frameshift deletion and splice variant) reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical details provided.
2 individuals with ZTTK syndrome reported with spastic hemiplegia resulting from metabolic stroke (PMID: 37168776).Created: 27 May 2024, 2:08 p.m. | Last Modified: 27 May 2024, 2:08 p.m.
Panel Version: 1.194
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ZTTK syndrome MIM#617140
Publications
Luisa Weiss (University of Adelaide)
2 individual cases in one large CP cohort study. However, usually ZITK syndrome is a multisystem disorder and intellectual disabilities, and organ malformations seem to be leading phenotypic features.
Sources: LiteratureCreated: 31 Jul 2023, 5:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ZTTK syndrome MIM#617140
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- ZTTK syndrome MIM#617140
- OMIM
- 182465
- Clinvar variants
- Variants in SON
- 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: son has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: son has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: SON was added gene: SON was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SON were set to 33528536 Phenotypes for gene: SON were set to ZTTK syndrome MIM#617140 Review for gene: SON was set to AMBER