Hereditary Spastic Paraplegia - paediatric

Gene: TECPR2

Green List (high evidence)

TECPR2 (tectonin beta-propeller repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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 prominent
Created: 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

20 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tecpr2 has been classified as Green List (High Evidence).

20 Sep 2020, Gel status: 3

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

20 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TECPR2 were set to

31 Dec 2019, Gel status: 3

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