Childhood solid tumours
Gene: CTR9
Inactivating CTR9 mutations segregate with Wilms tumor in multiple studies - PMID 25099282 (N=3), PMID 29292210 (N=1); LOH in tumour observed.Created: 12 Aug 2019, 8:10 a.m. | Last Modified: 12 Aug 2019, 8:10 a.m.
Panel Version: 1.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Wilms tumor
Publications
CTR9 is not associated with any phenotypes on OMIM and Gene2Phentype. There are 4 published cases of patients with Wilms tumour who are heterozygous for different variants in CTR9. The variant segregated with the disease in the families and the tumour is homozygous for the variants. Therefore there is enough evidence for this gene to be green.Created: 9 Aug 2019, 12:50 p.m. | Last Modified: 9 Aug 2019, 12:50 p.m.
Panel Version: 1.32
Publications
Tag gene-checked tag was added to gene: CTR9.
Phenotypes for gene: CTR9 were changed from Wilms tumour to Familial Wilms tumor
Mode of inheritance for gene: CTR9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: CTR9 was added gene: CTR9 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTR9 were set to 25099282; 29292210 Phenotypes for gene: CTR9 were set to Wilms tumour