Familial dysautonomia
Gene: TECPR2EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 10 panels
4 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
Neuser et al. (2021) reported clinical findings in 17 patients, including 2 sib pairs, from 15 families segregating HSAN9.Created: 23 Oct 2021, 8:49 a.m. | Last Modified: 23 Oct 2021, 8:49 a.m.
Panel Version: 1.15
Phenotypes
Sensory neuropathy; autonomic neuropathy
Publications
- PubMed: 33847017
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alice Gardham (Genomics England)
Comment when marking as ready: Central hypoventilation but no other autonomic dysfunctionCreated: 21 Nov 2016, 9:38 a.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and is classed as "probable" DD gene. Three variants reported as homozygotes and compound heterozygotes in six un-related Jewish families (three Bukharian, three Ashkenazi)Created: 26 Aug 2016, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 49, autosomal recessive 615031
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 49, autosomal recessive 615031
- OMIM
- 615000
- Clinvar variants
- Variants in TECPR2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Intellectual disability
- Hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for TECPR2 were set to 23176824; 26542466
Created
Sarah Leigh (Genomics England Curator)TECPR2 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)TECPR2 was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen