This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Dyskeratosis congenita
- OMIM
- 606470
- Clinvar variants
- Variants in NHP2
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Haematological malignancies for rare disease
- Pulmonary fibrosis familial
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Ductal plate malformation
- Rare anaemia
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood solid tumours
- Fetal anomalies
History Filter Activity
19 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NHP2 was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN