Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: NOP10

Red List (low evidence)

NOP10 (NOP10 ribonucleoprotein)
EnsemblGeneIds (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 date
Created: 9 Mar 2017, 12:20 p.m.
Comment on phenotypes: Inherited Bone Marrow Failure Syndromes
Created: 9 Mar 2017, 12:02 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

11 Mar 2017, Gel status: 1

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.

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2017, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NOP10 were set to 17507419

9 Mar 2017, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 224230

17 Feb 2017, Gel status: 3

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

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

NOP10 was created by LouiseD