Childhood solid tumours cancer susceptibility
Gene: NHP2EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 14 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis Congenita
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Dyskeratosis Congenita
- OMIM
- 606470
- Clinvar variants
- Variants in NHP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- 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
- Fetal anomalies
- COVID-19 research
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to Childhood solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)NHP2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)NHP2 was added to Childhood solid tumourspanel. Sources: Expert list