Cerebral Palsy
Gene: SETD2EnsemblGeneIds (GRCh38): ENSG00000181555
EnsemblGeneIds (GRCh37): ENSG00000181555
OMIM: 612778, Gene2Phenotype
SETD2 is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
1 individual reported with cerebral palsy and maternally inherited pathogenic stopgain variant in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536).
Sources: LiteratureCreated: 27 May 2024, 1:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 70, MIM#620157; Luscan-Lumish syndrome, MIM#61683; Rabin-Pappas syndrome, MIM#620155
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 70, MIM#620157
- Luscan-Lumish syndrome, MIM#61683
- Rabin-Pappas syndrome, MIM#620155
- OMIM
- 612778
- Clinvar variants
- Variants in SETD2
- 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: setd2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: setd2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: SETD2 was added gene: SETD2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD2 were set to PMID: 38693247; 33528536 Phenotypes for gene: SETD2 were set to Intellectual developmental disorder, autosomal dominant 70, MIM#620157; Luscan-Lumish syndrome, MIM#61683; Rabin-Pappas syndrome, MIM#620155 Review for gene: SETD2 was set to AMBER