Dystonia - complex
Gene: TNPO2EnsemblGeneIds (GRCh38): ENSG00000105576
EnsemblGeneIds (GRCh37): ENSG00000105576
OMIM: 603002, Gene2Phenotype
TNPO2 is in 5 panels
1 review
Shekeeb Mohammad (Children's Hospital at Westmead)
The movement disorder noted is a complex dystonia, with hyperkinetic components and some patients have episodic exacerbations
Sources: LiteratureCreated: 8 Apr 2022, 1:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
global developmental delay; dysmorphic features; ophthalmologic abnormalities; intellectual disability; fever induced seizures; epilepsy, dystonia; cerebellar dysplasia; cerebllar dysplasia; microcephaly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
- OMIM
- 603002
- Clinvar variants
- Variants in TNPO2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tnpo2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TNPO2 were changed from global developmental delay; dysmorphic features; ophthalmologic abnormalities; intellectual disability; fever induced seizures; epilepsy, dystonia; cerebellar dysplasia; cerebllar dysplasia; microcephaly to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tnpo2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Shekeeb Mohammad (Children's Hospital at Westmead)gene: TNPO2 was added gene: TNPO2 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNPO2 were set to 34314705 Phenotypes for gene: TNPO2 were set to global developmental delay; dysmorphic features; ophthalmologic abnormalities; intellectual disability; fever induced seizures; epilepsy, dystonia; cerebellar dysplasia; cerebllar dysplasia; microcephaly Penetrance for gene: TNPO2 were set to unknown Review for gene: TNPO2 was set to GREEN