This Panel is marked as Internal
Non-Fanconi anaemia
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
Helen Savage (Congenica Ltd)
Details
- Sources
-
- UKGTN
- Phenotypes
-
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2
- OMIM
- 606470
- Clinvar variants
- Variants in NHP2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ductal plate malformation
- Childhood solid tumours
- DDG2P
- Pulmonary fibrosis familial
- Haematological malignancies cancer susceptibility
- Rare anaemia
- Intellectual disability
- Fetal anomalies
- COVID-19 research
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN