Childhood solid tumours
Gene: NOP10Comment on list classification: Associated with relevant phenotype in OMIM and a 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, therefore left Amber until further evidence to support Green rating by external expertCreated: 10 Aug 2020, 11:55 a.m. | Last Modified: 30 Sep 2020, 1:17 p.m.
Panel Version: 2.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis Congenita
Phenotypes for gene: NOP10 were changed from Dyskeratosis Congenita to Dyskeratosis congenita, autosomal recessive 1, 224230
Publications for gene: NOP10 were set to 22965356
Gene: nop10 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to NOP10. Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyskeratosis Congenita for gene: NOP10 Publications for gene NOP10 were changed from to 22965356
gene: NOP10 was added gene: NOP10 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: NOP10 was set to