Cerebral Palsy
Gene: NT5C2
NT5C2 (5'-nucleotidase, cytosolic II)
EnsemblGeneIds (GRCh38): ENSG00000076685
EnsemblGeneIds (GRCh37): ENSG00000076685
OMIM: 600417, Gene2Phenotype
NT5C2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000076685
EnsemblGeneIds (GRCh37): ENSG00000076685
OMIM: 600417, Gene2Phenotype
NT5C2 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Overlapping phenotype, two families reported with a CP phenotype.
Sources: LiteratureCreated: 6 Oct 2020, 10:52 p.m.
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
- Literature
- Phenotypes
-
- Spastic paraplegia 45, autosomal recessive, MIM# 613162
- OMIM
- 600417
- Clinvar variants
- Variants in NT5C2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Oct 2020, 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).
6 Oct 2020, 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).
6 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NT5C2 was added gene: NT5C2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C2 were set to 31700678; 32153630 Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive, MIM# 613162 Review for gene: NT5C2 was set to GREEN