This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: NHP2
NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 14 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- ClinGen
- Phenotypes
-
- Dyskeratosis Congenita
- OrphaNet ORPHA1775
- OMIM 613987
- OMIM
- 606470
- Clinvar variants
- Variants in NHP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare anaemia
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Childhood solid tumours cancer susceptibility
- Haematological malignancies for rare disease
- Pulmonary fibrosis familial
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Ductal plate malformation
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood solid tumours
History Filter Activity
22 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Red
20 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen
20 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NHP2 was created by ellenmcdonagh