Childhood solid tumours cancer susceptibility
Gene: NOP10EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Associated with relevant phenotype in OMIM and as 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.Created: 11 Aug 2020, 8:44 a.m. | Last Modified: 11 Aug 2020, 8:44 a.m.
Panel Version: 1.13
Zornitza Stark (Australian Genomics)
Single family reported.Created: 1 Aug 2020, 8:08 a.m. | Last Modified: 1 Aug 2020, 8:08 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Publications
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 Amber
- Expert list
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 1, 224230
- OMIM
- 606471
- Clinvar variants
- Variants in NOP10
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOP10 were changed from Dyskeratosis Congenita to Dyskeratosis congenita, autosomal recessive 1, 224230
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: nop10 has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)NOP10 was added to Childhood solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)NOP10 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)NOP10 was added to Childhood solid tumourspanel. Sources: Expert list