Hereditary Spastic Paraplegia - paediatric
Gene: TECPR2EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominentCreated: 20 Sep 2020, 7:07 a.m. | Last Modified: 20 Sep 2020, 7:07 a.m.
Panel Version: 0.140
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 49, autosomal recessive, MIM# 615031
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia 49, autosomal recessive, 615031
- Autonomic-sensory neuropathy
- OMIM
- 615000
- Clinvar variants
- Variants in TECPR2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tecpr2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TECPR2 were changed from Spastic paraplegia 49, autosomal recessive, 615031; Spastic paraplegia 49, autosomal recessive,615031, AR to Spastic paraplegia 49, autosomal recessive, 615031; Autonomic-sensory neuropathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TECPR2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TECPR2 was added gene: TECPR2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031; Spastic paraplegia 49, autosomal recessive,615031, AR