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Prepair 1000+

Gene: NT5C2

Green List (high evidence)

NT5C2 (5'-nucleotidase, cytosolic II)
EnsemblGeneIds (GRCh38): ENSG00000076685
EnsemblGeneIds (GRCh37): ENSG00000076685
OMIM: 600417, Gene2Phenotype
NT5C2 is in 7 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive spastic paraplegia type 45 is a rare form of hereditary spastic paraplegia characterised by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.

HGNC approved symbol/name: NT5C2
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 3 Mar 2025, 4:56 a.m. | Last Modified: 3 Mar 2025, 4:56 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 45, autosomal recessive, MIM# 613162

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 45, 613162 (3)
OMIM
600417
Clinvar variants
Variants in NT5C2
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NT5C2 was added gene: NT5C2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)