Cerebral Palsy
Gene: TRIT1
TRIT1 (tRNA isopentenyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with compound heterozygous variants (nonsense and missense) reported in a monocentric cohort study (PMID: 39213953). Clinically axial hypotonia, peripheral hypertonia, microcephaly, spastic CP, widened ventricular system, widened subarachnoid space.
Sources: LiteratureCreated: 2 Sep 2024, 6:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 35, MIM#617873
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 35, MIM#617873
- Clinvar variants
- Variants in TRIT1
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
2 Sep 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: TRIT1 was added gene: TRIT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to PMID: 39213953 Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, MIM#617873 Review for gene: TRIT1 was set to RED