Haematological malignancies for rare disease
Gene: NOP10
NOP10 (NOP10 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: BM failure syndrome (typ AR)
- Dyskeratosis congenita
- MDS, AML
- Oral and GI squamous cell carcinoma
- OMIM
- 606471
- Clinvar variants
- Variants in NOP10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Ductal plate malformation
- Childhood solid tumours
- Proteinuric renal disease
- DDG2P
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- COVID-19 research
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NOP10 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)NOP10 was created by Ellen McDonagh