1. Panels
  2. Hereditary Spastic Paraplegia - paediatric
  3. NT5C2
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID and CC abnormalities are associated variable features. Nine unrelated families reported.
Created: 14 Mar 2021, 6:37 a.m. | Last Modified: 14 Mar 2021, 6:37 a.m.
Panel Version: 0.191

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 45, autosomal recessive, MIM# 613162

Publications

Created: 14 Mar 2021, 6:37 a.m.
Last Modified: 14 Mar 2021, 6:37 a.m.
Panel version: 0.191

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 45, autosomal recessive, MIM# 613162
  • MONDO:0013165
OMIM
600417
Clinvar variants
Variants in NT5C2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nt5c2 has been classified as Green List (High Evidence).

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NT5C2 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NT5C2 was added gene: NT5C2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR