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  2. Intellectual disability syndromic and non-syndromic
  3. TNPO2
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Intellectual disability syndromic and non-syndromic

Gene: TNPO2

Green List (high evidence)
TNPO2 (transportin 2)
EnsemblGeneIds (GRCh38): ENSG00000105576
EnsemblGeneIds (GRCh37): ENSG00000105576
OMIM: 603002, Gene2Phenotype
TNPO2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556

Created: 13 Oct 2021, 1:49 a.m.
Last Modified: 13 Oct 2021, 1:49 a.m.
Panel version: 0.4200

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 34314705 - all de novo missense variants with intellectual disability (9/9), speech impairment (15/15), motor impairment (15/15), ophthalmologic abnormalities (10/15), muscle tone abnormalities (11/15, primarily hypotonia), seizures (6/15, febrile to non-febrile), microcephaly (5/15) and MRI anomalies (7/13, 3/13 had cerebellar hypoplasia/dysplasia).

Null fly model was homozygous lethal, no obvious phenotypes in heterozygotes. Upregulated gene expression also resulted in lethality. Overexpression of some human variants in fly models resulted in "toxicity" and phenotypic defects, authors speculate two variants are GOF, 1 variant is LOF.

gnomAD: minimal PTCs present
Sources: Literature
Created: 2 Aug 2021, 6:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Developmental delays, neurologic deficits and dysmorphic features

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2021, 6:21 a.m.

Panel version: 0.4017

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
OMIM
603002
Clinvar variants
Variants in TNPO2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnpo2 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNPO2 were changed from Developmental delays, neurologic deficits and dysmorphic features to Intellectual disability, neurologic deficits and dysmorphic features

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnpo2 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Elena Savva (Victorian Clinical Genetics Services)

gene: TNPO2 was added gene: TNPO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNPO2 were set to PMID: 34314705 Phenotypes for gene: TNPO2 were set to Developmental delays, neurologic deficits and dysmorphic features Mode of pathogenicity for gene: TNPO2 was set to Other Review for gene: TNPO2 was set to GREEN