TECPR2

tectonin beta-propeller repeat containing 2
OMIM: 615000, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TECPR2 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia 49 MONDO:0014016

Green TECPR2 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 49, autosomal recessive, 615031
  • Autonomic-sensory neuropathy

Green TECPR2 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 49, autosomal recessive
  • HSAN/SFN

Green TECPR2 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031

Green TECPR2 in Prepair 500+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031