Cerebral Palsy
Gene: TRIOEnsemblGeneIds (GRCh38): ENSG00000038382
EnsemblGeneIds (GRCh37): ENSG00000038382
OMIM: 601893, Gene2Phenotype
TRIO is in 8 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo missense variant in TRIO reported in a monocentric cohort study (PMID: 39213953). Clinically spastic quadriplegia, microcephaly, cortical visual impairment, Lennox Gastaut epilepsy, cerebral atrophy, megacisterna magna, aberrant skull morphology.
Sources: LiteratureCreated: 2 Sep 2024, 6:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061
- OMIM
- 601893
- Clinvar variants
- Variants in TRIO
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trio has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trio has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trio 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: TRIO was added gene: TRIO was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIO were set to PMID: 39213953 Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061 Review for gene: TRIO was set to RED