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Prepair 1000+

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe childhood-onset disorder.
Created: 28 Jul 2022, 8:25 a.m. | Last Modified: 28 Jul 2022, 8:25 a.m.
Panel Version: 0.93

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031

Crystle Lee (Victorian Clinical Genetics Services)

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
Sources: Literature
Created: 26 Jul 2022, 3:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
OMIM
615000
Clinvar variants
Variants in TECPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes, Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 for gene: TECPR2 Publications for gene TECPR2 were updated from 23176824; 26542466; 35130874 to 26542466; 23176824; 35130874

28 Jul 2022, 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).

28 Jul 2022, 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).

26 Jul 2022, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: TECPR2 was added gene: TECPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824; 26542466; 35130874 Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 Review for gene: TECPR2 was set to GREEN