Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	8962167
Species:	Chinchilla lanigera
RGD Object:	Gene
Symbol:	Tnpo2
Name:	transportin 2

Acc ID:	DOID:0081262
Term:	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Definition:	An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. (DO)
Definition Source(s):	https://pubmed.ncbi.nlm.nih.gov/34314705/ "DO" "DO"

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
Tnpo2		ISO	TNPO2 (Homo sapiens)	7240710	OMIM
Tnpo2		ISO	TNPO2 (Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies \| ClinVar Annotator: match by term: TNPO2-related condition	PMID:25741868 PMID:34314705

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