Childhood solid tumours cancer susceptibility
Gene: NOP10Comment 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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis Congenita
Publications
Phenotypes for gene: NOP10 were changed from Dyskeratosis Congenita to Dyskeratosis congenita, autosomal recessive 1, 224230
Gene: nop10 has been classified as Amber List (Moderate Evidence).
Clare Turnbull: Tumour suppressor.
NOP10 was added to Childhood solid tumourspanel. Source: Expert Review Green
NOP10 was created by ellenmcdonagh
NOP10 was added to Childhood solid tumourspanel. Sources: Expert list