1. Panels
  2. Hereditary Neuropathy - complex
  3. TECPR2
Regions in panel
Prev Next

Hereditary Neuropathy - complex

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association.

PMID: 36137062 - Autonomic neuropathy is a prominent feature TECPR2-HSAN. LoF is a mechanism of disease and evidence for pathogenicity for missense variants are still being investigated.

PMID: 26542466
3 unrelated individuals with autonomic-sensory neuropathy and mutations in TECPR2.

PMID: 23176824
4 jewish individuals from three unrelated families with homozygous frameshift variants in TECPR2.
Created: 4 Aug 2023, 6:05 a.m. | Last Modified: 4 Aug 2023, 6:05 a.m.
Panel Version: 0.215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 Aug 2023, 6:05 a.m.
Last Modified: 4 Aug 2023, 6:05 a.m.
Panel version: 0.215

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 49, autosomal recessive
  • HSAN/SFN
OMIM
615000
Clinvar variants
Variants in TECPR2
Penetrance
None
Panels with this gene

History Filter Activity

13 Jan 2020, 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 Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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; HSAN/SFN