This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NT5C2
NT5C2 (5'-nucleotidase, cytosolic II)
EnsemblGeneIds (GRCh38): ENSG00000076685
EnsemblGeneIds (GRCh37): ENSG00000076685
OMIM: 600417, Gene2Phenotype
NT5C2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000076685
EnsemblGeneIds (GRCh37): ENSG00000076685
OMIM: 600417, Gene2Phenotype
NT5C2 is in 6 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases; variable as to whether spasticity is the main presenting feature or global delay, but as both are reported it would be appropriate for inclusion on this panel on phenotypic grounds.Created: 5 Mar 2018, 12:33 p.m.
Louise Daugherty (Genomics England Curator)
Comment on list classification: Promoted gene status from Amber to Green due to evidence found in more than three individuals for ID phenotypeCreated: 26 Feb 2018, 1:54 p.m.
Comment on publications: added publications to support the Intellectual Disability phenotype observed in Spastic paraplegia 45, autosomal recessive with ID phenotypeCreated: 26 Feb 2018, 1:52 p.m.
Comment on phenotypes: Added phenotype from OMIM and from PMID: 19415352, 24482476. Although predominately the variants cause a movement disorder phenotype, intellectual Disability is a feature, and has been reported in 5 unrelated families. Novarino et al. (2014) PMID: 24482476 reported 4 of the five families had ID phenotype (6 affecteds) and Dursun et al. (2009) PMID:19415352 reported a consanguineous Turkish family in which 5 individuals had a form of complicated spastic paraplegia with mental retardation.Created: 26 Feb 2018, 1:37 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- Spastic paraplegia 45, autosomal recessive, 613162
- Intellectual disability
- OMIM
- 600417
- Clinvar variants
- Variants in NT5C2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 Mar 2018, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Feb 2018, Gel status: 3
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Feb 2018, Gel status: 2
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal
26 Feb 2018, Gel status: 2
Set publications
Louise Daugherty (Genomics England Curator)Publications for NT5C2 were set to 20301682; 24482476; 19415352
26 Feb 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NT5C2 were set to Spastic paraplegia 45, autosomal recessive, 613162; Intellectual disability
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)NT5C2 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)NT5C2 was created by Ellen McDonagh