Childhood solid tumours
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
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis Congenita
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Phenotypes
-
- Dyskeratosis Congenita
- OMIM
- 606470
- Clinvar variants
- Variants in NHP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Intellectual disability
- Pulmonary fibrosis familial
- Ductal plate malformation
- COVID-19 research
- Rare anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
2 Aug 2019, Gel status: 1
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NHP2. Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyskeratosis Congenita for gene: NHP2 Publications for gene NHP2 were changed from to 22965356
30 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NHP2 was added gene: NHP2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: NHP2 was set to