Adult solid tumours cancer susceptibility
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 1, 224230
- OMIM
- 606471
- Clinvar variants
- Variants in NOP10
- Penetrance
- None
- 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
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Haematological malignancies cancer susceptibility
- Proteinuric renal disease
- Pigmentary skin disorders
- COVID-19 research
History Filter Activity
30 Sep 2020, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOP10 were changed from Dyskeratosis Congenita to Dyskeratosis congenita, autosomal recessive 1, 224230
2 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NOP10 was added gene: NOP10 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis Congenita