Prepair 1000+

Gene: TECPR2

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

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

• 23176824
• 26542466
• 35130874