Cytopenias and congenital anaemiasGene: NOP10
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for NOP10 were set to 17507419
Phenotypes for NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 224230
NOP10 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
NOP10 was created by LouiseD