Familial dysautonomia
Gene: TECPR2
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Central hypoventilation but no other autonomic dysfunctionCreated: 21 Nov 2016, 9:38 a.m.
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
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Red List (Low Evidence).
Publications for TECPR2 were set to 23176824; 26542466
TECPR2 was created by sleigh
TECPR2 was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen