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Childhood solid tumours

Gene: CTR9

Green List (high evidence)
CTR9 (CTR9 homolog, Paf1/RNA polymerase II complex component)
EnsemblGeneIds (GRCh38): ENSG00000198730
EnsemblGeneIds (GRCh37): ENSG00000198730
OMIM: 609366, Gene2Phenotype
CTR9 is in 4 panels

2 reviews

Shazia Mahamdallie (Great Ormond Street)

Green List (high evidence)

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

Created: 12 Aug 2019, 8:10 a.m.
Last Modified: 12 Aug 2019, 8:10 a.m.
Panel version: 1.32

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Created: 9 Aug 2019, 12:50 p.m.
Last Modified: 9 Aug 2019, 12:50 p.m.
Panel version: 1.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Wilms tumor
Tags
gene-checked
OMIM
609366
Clinvar variants
Variants in CTR9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag gene-checked tag was added to gene: CTR9.

12 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CTR9 were changed from Wilms tumour to Familial Wilms tumor

12 Aug 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CTR9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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