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Mendeliome

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as DEFINITIVE by ClinGen Cerebal Palsy GCEP on 12/09/2024.
LoF is the mechanism of disease for this condition.
Created: 8 Nov 2024, 3:12 a.m. | Last Modified: 8 Nov 2024, 3:12 a.m.
Panel Version: 1.2090

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex hereditary spastic paraplegia MONDO:0015150

Publications

  • https://search.clinicalgenome.org/CCID:008372

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, 6:39 a.m. | Last Modified: 14 Mar 2021, 6:39 a.m.
Panel Version: 0.6709

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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 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

14 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NT5C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NT5C2 was added gene: NT5C2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NT5C2 was set to Unknown