Childhood solid tumours
Gene: NOP10EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Associated with relevant phenotype in OMIM and a possible Gen2Phen gene. Homozygous NOP10 variant (c.100C>T, p.Arg34Trp) only reported once in 3 affected members of a consanguineous Saudi family (PMID: 17507419). Additional cases required before inclusion on a diagnostic panel, therefore left Amber until further evidence to support Green rating by external expertCreated: 10 Aug 2020, 11:55 a.m. | Last Modified: 30 Sep 2020, 1:17 p.m.
Panel Version: 2.13
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis Congenita
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Expert List
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 1, 224230
- OMIM
- 606471
- Clinvar variants
- Variants in NOP10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Pulmonary fibrosis familial
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Proteinuric renal disease
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOP10 were changed from Dyskeratosis Congenita to Dyskeratosis congenita, autosomal recessive 1, 224230
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: NOP10 were set to 22965356
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: nop10 has been classified as Amber List (Moderate Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NOP10. Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyskeratosis Congenita for gene: NOP10 Publications for gene NOP10 were changed from to 22965356
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NOP10 was added gene: NOP10 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: NOP10 was set to