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| Wilms Tumour v0.40 | CTR9 | Zornitza Stark Marked gene: CTR9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.40 | CTR9 | Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.40 | CTR9 | Zornitza Stark Publications for gene: CTR9 were set to PMID: 25099282, 39293508, 29292210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.30 | CTR9 |
Chirag Patel changed review comment from: Evidence for gene-disease association for Wilms tumour. Truncating variants are a rare cause of familial Wilms tumour. PMID: 25099282 Inactivating CTR9 mutations found in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. All variants were absent in 1,000 population controls and segregated with Wilms tumour in the family with second mutational event present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. PMID: 39293508 1 individual with bilateral Wilms tumour and a pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from her asymptomatic father. The loss of heterozygosity in the tumour was confirmed. PMID: 29292210 3 affected siblings from 1 family with Wilms tumour (one presenting an aggressive bilateral tumour). They identified a novel CTR9 germline variant, located in a consensus splice acceptor site, which was found to segregate with Wilms tumour in this family. The variant leads to the skipping of the entire exon 9 in the mRNA, which is predicted to encode a truncated CTR9 protein, strongly suggesting that it is pathogenic. They also detected loss of heterozygosity in the index case tumour, which is consistent with CTR9 being a tumour suppressor gene. Sources: Expert list, Expert Review, Literature; to: Evidence for gene-disease association for Wilms tumour. Truncating variants are a rare cause of familial Wilms tumour. PMID: 25099282 Inactivating CTR9 mutations found in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. All variants were absent in 1,000 population controls and segregated with Wilms tumour in the family with second mutational event present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. PMID: 39293508 2 female siblings with Wilms tumour (1 with bilateral Wilms tumour) and a pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from her asymptomatic father. The loss of heterozygosity in the tumour was confirmed. PMID: 29292210 3 affected siblings from 1 family with Wilms tumour (one presenting an aggressive bilateral tumour). They identified a novel CTR9 germline variant, located in a consensus splice acceptor site, which was found to segregate with Wilms tumour in this family. The variant leads to the skipping of the entire exon 9 in the mRNA, which is predicted to encode a truncated CTR9 protein, strongly suggesting that it is pathogenic. They also detected loss of heterozygosity in the index case tumour, which is consistent with CTR9 being a tumour suppressor gene. Sources: Expert list, Expert Review, Literature |
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| Wilms Tumour v0.27 | CTR9 | Chirag Patel Classified gene: CTR9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.27 | CTR9 | Chirag Patel Gene: ctr9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.26 | CTR9 |
Chirag Patel gene: CTR9 was added gene: CTR9 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTR9 were set to PMID: 25099282, 39293508, 29292210 Phenotypes for gene: CTR9 were set to Wilms tumor, MONDO:0006058; Wilms tumor predisposition, no MIM# Review for gene: CTR9 was set to GREEN Added comment: Evidence for gene-disease association for Wilms tumour. Truncating variants are a rare cause of familial Wilms tumour. PMID: 25099282 Inactivating CTR9 mutations found in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. All variants were absent in 1,000 population controls and segregated with Wilms tumour in the family with second mutational event present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. PMID: 39293508 1 individual with bilateral Wilms tumour and a pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from her asymptomatic father. The loss of heterozygosity in the tumour was confirmed. PMID: 29292210 3 affected siblings from 1 family with Wilms tumour (one presenting an aggressive bilateral tumour). They identified a novel CTR9 germline variant, located in a consensus splice acceptor site, which was found to segregate with Wilms tumour in this family. The variant leads to the skipping of the entire exon 9 in the mRNA, which is predicted to encode a truncated CTR9 protein, strongly suggesting that it is pathogenic. They also detected loss of heterozygosity in the index case tumour, which is consistent with CTR9 being a tumour suppressor gene. Sources: Expert list, Expert Review, Literature |
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