Cerebral Palsy
Gene: TEP1EnsemblGeneIds (GRCh38): ENSG00000129566
EnsemblGeneIds (GRCh37): ENSG00000129566
OMIM: 601686, Gene2Phenotype
TEP1 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Uncertain if these are risk alleles vs indicative of a monogenic disorder. Note LoF variants in gnomad. As this was a cohort study, inheritance of these variants is unknown.Created: 2 Aug 2023, 4:33 a.m. | Last Modified: 2 Aug 2023, 4:33 a.m.
Panel Version: 1.171
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral palsy, MONDO:0006497, TEP1-related
Luisa Weiss (University of Adelaide)
Wang et al. screened a large cohort of more than 600 CP patients from China and found several variants in TEP1, 11 of which were LoF, while no LoF variant was found in the control cohort. These children all had spastic CP. Among these 11 children, 6 children had birth asphyxia and neonatal encephalopathy. Compared to the total group with birth asphyxia (71/667), 6 patients with TEP1 LOF mutations had a significantly greater risk of birth asphyxia. They confirmed TEP1 as a risk factor for CP by cytological and animal models.
Sources: LiteratureCreated: 1 Aug 2023, 12:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cerebral palsy, MONDO:0006497, TEP1-related
- OMIM
- 601686
- Clinvar variants
- Variants in TEP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TEP1 were changed from to Cerebral palsy, MONDO:0006497, TEP1-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tep1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tep1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Luisa Weiss (University of Adelaide)gene: TEP1 was added gene: TEP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TEP1 were set to 34543729 Review for gene: TEP1 was set to GREEN