Cerebral Palsy
Gene: THEnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 14 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals reported with biallelic pathogenic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Segawa syndrome is characterised by onset in infancy of dopa-responsive dystonia. Multiple additional reports of Segawa syndrome diagnosed as dystonic/dyskinetic cerebral palsy (e.g. PMID: 28904579, PMID: 2499372).Created: 24 Jun 2024, 4:32 a.m. | Last Modified: 24 Jun 2024, 4:32 a.m.
Panel Version: 1.294
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Segawa syndrome, recessive, MIM#605407
Publications
Luisa Weiss (University of Adelaide)
2 individual cases in one large Chinese CP cohort study, both with compound heterozygous mutations.
Sources: LiteratureCreated: 1 Aug 2023, 12:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Segawa syndrome, recessive MIM#605407
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Segawa syndrome, recessive MIM#605407
- OMIM
- 191290
- Clinvar variants
- Variants in TH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Cerebral Palsy
- Early-onset Parkinson disease
- Neurotransmitter Defects
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Incidentalome
- Early-onset Dementia
- Additional findings_Paediatric
- Prepair 1000+
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TH were set to 34788679
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: th has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: th has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: th 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: TH was added gene: TH was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 34788679 Phenotypes for gene: TH were set to Segawa syndrome, recessive MIM#605407 Review for gene: TH was set to AMBER