Cytopenias and congenital anaemias
Gene: NOP10EnsemblGeneIds (GRCh38): ENSG00000182117
EnsemblGeneIds (GRCh37): ENSG00000182117
OMIM: 606471, Gene2Phenotype
NOP10 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Only one family reported to dateCreated: 9 Mar 2017, 12:20 p.m.
Comment on phenotypes: Inherited Bone Marrow Failure SyndromesCreated: 9 Mar 2017, 12:02 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 1 224230
- OMIM
- 606471
- Clinvar variants
- Variants in NOP10
- Penetrance
- Complete
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for NOP10 were set to 17507419
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 224230
Added New Source
Louise Daugherty (Genomics England Curator)NOP10 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Created
Louise Daugherty (Genomics England Curator)NOP10 was created by LouiseD