PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
106 actions
Wilms Tumour v1.0 Zornitza Stark promoted panel to version 1.0
Wilms Tumour v0.41 Zornitza Stark Panel status changed from internal to public
Wilms Tumour v0.40 TP53 Zornitza Stark Marked gene: TP53 as ready
Wilms Tumour v0.40 TP53 Zornitza Stark Gene: tp53 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Wilms Tumour v0.40 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 CTCF Zornitza Stark Marked gene: CTCF as ready
Wilms Tumour v0.40 CTCF Zornitza Stark Gene: ctcf has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Wilms Tumour v0.40 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Wilms Tumour v0.40 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Wilms Tumour v0.40 AMER1 Zornitza Stark Gene: amer1 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 NYNRIN Zornitza Stark Marked gene: NYNRIN as ready
Wilms Tumour v0.40 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.40 FBXW7 Zornitza Stark Marked gene: FBXW7 as ready
Wilms Tumour v0.40 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.40 DICER1 Zornitza Stark Marked gene: DICER1 as ready
Wilms Tumour v0.40 DICER1 Zornitza Stark Gene: dicer1 has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.40 WT1 Zornitza Stark Marked gene: WT1 as ready
Wilms Tumour v0.40 WT1 Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Wilms Tumour v0.40 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Wilms Tumour v0.40 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Wilms Tumour v0.40 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 REST Zornitza Stark Marked gene: REST as ready
Wilms Tumour v0.40 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Wilms Tumour v0.40 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Wilms Tumour v0.40 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Wilms Tumour v0.40 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Wilms Tumour v0.40 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
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 v0.39 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Wilms Tumour v0.39 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Wilms Tumour v0.39 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Wilms Tumour v0.39 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Wilms Tumour v0.39 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Wilms Tumour v0.39 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Wilms Tumour v0.39 BLM Zornitza Stark Marked gene: BLM as ready
Wilms Tumour v0.39 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Wilms Tumour v0.39 DICER1 Chirag Patel changed review comment from: ClinGen definitive. Wilms tumour may rarely be associated with a germline DICER1 pathogenic variant.
Sources: Expert list, Expert Review; to: ClinGen definitive. Some evidence for presentation with Wilms tumour in disease.
Sources: Expert list, Expert Review
Wilms Tumour v0.39 PIK3CA Chirag Patel gene: PIK3CA was added
gene: PIK3CA was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to Wilms tumor, MONDO:0006058; PIK3CA-related overgrowth spectrum, MONDO:1040002; PIK3CA-related overgrowth syndrome, multiple MIM#
Mode of pathogenicity for gene: PIK3CA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PIK3CA was set to RED
Added comment: ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease. GOF and mosaic variants.
Sources: Expert list, Expert Review
Wilms Tumour v0.38 TP53 Chirag Patel gene: TP53 was added
gene: TP53 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Wilms tumor, MONDO:0006058; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Review for gene: TP53 was set to RED
Added comment: ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease.
Sources: Expert list, Expert Review
Wilms Tumour v0.37 CDC73 Chirag Patel gene: CDC73 was added
gene: CDC73 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC73 were set to PMID: 37339334, 7912571, 7717405
Phenotypes for gene: CDC73 were set to Wilms tumor, MONDO:0006058; Hyperparathyroidism 2 with jaw tumors, MONDO:0007768; Hyperparathyroidism-jaw tumor syndrome, MIM#145001; Hyperparathyroidism, familial primary, MIM#145000
Review for gene: CDC73 was set to RED
Added comment: ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease. Three cases of Wilms tumour in unrelated individuals with HPT-JT syndrome.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.36 CTCF Chirag Patel gene: CTCF was added
gene: CTCF was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTCF were set to PMID: 31239556, 35459888, 36454652
Phenotypes for gene: CTCF were set to Wilms tumor, MONDO:0006058; Intellectual developmental disorder, autosomal dominant 21, MIM#615502
Review for gene: CTCF was set to RED
Added comment: Limited evidence for presentation with Wilms tumour in disease. Four cases of Wilms tumour in unrelated individuals with CTCF-related disorder.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.35 ASXL1 Chirag Patel gene: ASXL1 was added
gene: ASXL1 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASXL1 were set to Wilms tumor, MONDO:0006058; Bohring-Opitz syndrome, MONDO:0011510; Bohring-Opitz syndrome, MIM#605039
Review for gene: ASXL1 was set to RED
Added comment: Limited evidence for presentation with Wilms tumour in disease.
Sources: Expert list, Expert Review
Wilms Tumour v0.34 AMER1 Chirag Patel changed review comment from: Limited evidence for gene-disease association for Wilms tumour. Four cases of Wilms tumour in unrelated individuals with OSCS.
Sources: Expert list, Expert Review, Literature; to: Limited evidence for presentation with Wilms tumour in disease. Four cases of Wilms tumour in unrelated individuals with OSCS.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.34 AMER1 Chirag Patel gene: AMER1 was added
gene: AMER1 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AMER1 were set to PMID: 32879452
Phenotypes for gene: AMER1 were set to Wilms tumor, MONDO:0006058; Osteopathia striata with cranial sclerosis, MONDO:0010310; Osteopathia striata with cranial sclerosis. MIM#300373
Review for gene: AMER1 was set to RED
Added comment: Limited evidence for gene-disease association for Wilms tumour. Four cases of Wilms tumour in unrelated individuals with OSCS.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.33 NYNRIN Chirag Patel Classified gene: NYNRIN as Amber List (moderate evidence)
Wilms Tumour v0.33 NYNRIN Chirag Patel Gene: nynrin has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.32 NYNRIN Chirag Patel gene: NYNRIN was added
gene: NYNRIN was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NYNRIN were set to PMID: 30885698
Phenotypes for gene: NYNRIN were set to Wilms tumor, MONDO:0006058; Wilms tumour, no MIM#
Review for gene: NYNRIN was set to AMBER
Added comment: Some evidence for gene-disease association for Wilms tumour. Three cases of biallelic truncating variants associated with sporadic Wilms tumour.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.31 FBXW7 Chirag Patel changed review comment from: Some evidence for gene-disease association for Wilms tumour. Few cases of monoallelic truncating variants associated with sporadic Wilms tumour (possible incomplete penetrance).
Sources: Expert list, Expert Review, Literature; to: Some evidence for gene-disease association for Wilms tumour. Four cases of monoallelic truncating variants associated with sporadic Wilms tumour (possible incomplete penetrance).
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.31 FBXW7 Chirag Patel Classified gene: FBXW7 as Amber List (moderate evidence)
Wilms Tumour v0.31 FBXW7 Chirag Patel Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
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
Wilms Tumour v0.30 FBXW7 Chirag Patel gene: FBXW7 was added
gene: FBXW7 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW7 were set to PMID: 30885698
Phenotypes for gene: FBXW7 were set to Wilms tumor, MONDO:0006058; Wilms tumour, no MIM#
Review for gene: FBXW7 was set to AMBER
Added comment: Some evidence for gene-disease association for Wilms tumour. Few cases of monoallelic truncating variants associated with sporadic Wilms tumour (possible incomplete penetrance).
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.29 DICER1 Chirag Patel Classified gene: DICER1 as Amber List (moderate evidence)
Wilms Tumour v0.29 DICER1 Chirag Patel Gene: dicer1 has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.28 DICER1 Chirag Patel gene: DICER1 was added
gene: DICER1 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DICER1 were set to Wilms tumor, MONDO:0006058; DICER1-related tumor predisposition, MONDO:0100216; DICER1 syndrome, MIM#601200
Review for gene: DICER1 was set to AMBER
Added comment: ClinGen definitive. Wilms tumour may rarely be associated with a germline DICER1 pathogenic variant.
Sources: Expert list, Expert Review
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
Wilms Tumour v0.25 TRIM28 Chirag Patel Classified gene: TRIM28 as Green List (high evidence)
Wilms Tumour v0.25 TRIM28 Chirag Patel Gene: trim28 has been classified as Green List (High Evidence).
Wilms Tumour v0.24 TRIM28 Chirag Patel gene: TRIM28 was added
gene: TRIM28 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to PMID: 29912901, 30694527, 30885698, 33565090
Phenotypes for gene: TRIM28 were set to Wilms tumor, MONDO:0006058; Wilms tumor predisposition, no MIM#
Review for gene: TRIM28 was set to GREEN
Added comment: Evidence for gene-disease association for Wilms tumour.

Among 890 individuals with Wilms tumour, a germline TRIM28 pathogenic variant was identified in 21 affected individuals. Age of onset ranged from 5 months to 9 years. TRIM28-related Wilms tumours can be either unilateral or bilateral, predominantly have epithelial-type histology, and are frequently accompanied by nephrogenic rests. Immunohistochemistry studies show negative staining for TRIM28. With few exceptions, the reported germline variants are truncating or splice site variants located throughout the protein coding regions with evidence suggestive of a maternal parent-of-origin effect. Germline TRIM28 pathogenic variants do not appear to be associated with any phenotype other than Wilms tumour.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.23 REST Chirag Patel Classified gene: REST as Green List (high evidence)
Wilms Tumour v0.23 REST Chirag Patel Gene: rest has been classified as Green List (High Evidence).
Wilms Tumour v0.22 REST Chirag Patel gene: REST was added
gene: REST was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REST were set to PMID: 26551668
Phenotypes for gene: REST were set to Wilms tumor, MONDO:0006058; Wilms tumor 6, MONDO:0014779; Wilms tumor 6, susceptibility to, MIM#616806
Review for gene: REST was set to GREEN
Added comment: Evidence for gene-disease association for Wilms tumour.

11 different inactivating mutations in the REST gene in 4 familial Wilms tumor pedigrees and 9 non-familial cases. All variants were absent from ICR1000 control series and ExAC series. A second mutational event was found in two tumors, suggesting that REST may act as a tumor-suppressor gene in Wilms tumor pathogenesis. Ten of 11 mutations clustered within the portion of REST encoding the DNA-binding domain, and functional analyses showed that these mutations compromise REST transcriptional repression.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.21 TRIP13 Chirag Patel Classified gene: TRIP13 as Green List (high evidence)
Wilms Tumour v0.21 TRIP13 Chirag Patel Gene: trip13 has been classified as Green List (High Evidence).
Wilms Tumour v0.20 TRIP13 Chirag Patel gene: TRIP13 was added
gene: TRIP13 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP13 were set to PMID: 28553959
Phenotypes for gene: TRIP13 were set to Wilms tumor, MONDO:0006058; Mosaic variegated aneuploidy syndrome 3, MONDO:0054736; Mosaic variegated aneuploidy syndrome 3, MIM#617598
Review for gene: TRIP13 was set to GREEN
Added comment: Wilms tumour reported in condition.

6 unrelated patients with MVA3 with early-onset Wilms tumour, and homozygous truncating mutations in the TRIP13 gene. Cells derived from patients with the R354X mutation showed chromosomal instability, including aneuploidy, premature chromatid separation, lagging chromosomes, and chromosome bridges. Mutant cells showed increased mitotic exit and impaired recruitment of MAD2 to unattached kinetochores, indicating severe disruption of the spindle assembly checkpoint. These defects could be restored with wildtype TRIP13. The mutant protein was unable to rescue spindle assembly checkpoint defects in a cell line with CRISPR-Cas9-mediated knockdown of TRIP13, consistent with a loss of function.
Sources: Expert list, Expert Review, Literature
Wilms Tumour v0.19 BLM Chirag Patel Classified gene: BLM as Green List (high evidence)
Wilms Tumour v0.19 BLM Chirag Patel Gene: blm has been classified as Green List (High Evidence).
Wilms Tumour v0.18 BRCA2 Chirag Patel Classified gene: BRCA2 as Green List (high evidence)
Wilms Tumour v0.18 BRCA2 Chirag Patel Gene: brca2 has been classified as Green List (High Evidence).
Wilms Tumour v0.17 BUB1B Chirag Patel Classified gene: BUB1B as Green List (high evidence)
Wilms Tumour v0.17 BUB1B Chirag Patel Gene: bub1b has been classified as Green List (High Evidence).
Wilms Tumour v0.16 CDKN1C Chirag Patel Classified gene: CDKN1C as Green List (high evidence)
Wilms Tumour v0.16 CDKN1C Chirag Patel Gene: cdkn1c has been classified as Green List (High Evidence).
Wilms Tumour v0.15 DIS3L2 Chirag Patel Classified gene: DIS3L2 as Green List (high evidence)
Wilms Tumour v0.15 DIS3L2 Chirag Patel Gene: dis3l2 has been classified as Green List (High Evidence).
Wilms Tumour v0.14 GPC3 Chirag Patel Classified gene: GPC3 as Green List (high evidence)
Wilms Tumour v0.14 GPC3 Chirag Patel Gene: gpc3 has been classified as Green List (High Evidence).
Wilms Tumour v0.13 PALB2 Chirag Patel Classified gene: PALB2 as Green List (high evidence)
Wilms Tumour v0.13 PALB2 Chirag Patel Gene: palb2 has been classified as Green List (High Evidence).
Wilms Tumour v0.12 TRIM37 Chirag Patel Classified gene: TRIM37 as Green List (high evidence)
Wilms Tumour v0.12 TRIM37 Chirag Patel Gene: trim37 has been classified as Green List (High Evidence).
Wilms Tumour v0.11 WT1 Chirag Patel Classified gene: WT1 as Green List (high evidence)
Wilms Tumour v0.11 WT1 Chirag Patel Gene: wt1 has been classified as Green List (High Evidence).
Wilms Tumour v0.10 WT1 Chirag Patel gene: WT1 was added
gene: WT1 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WT1 were set to Wilms tumor, MONDO:0006058; Wilms tumor 1, MONDO:0008679; Wilms tumor, type 1, MIM#194070; Denys-Drash syndrome, MIM#194080; Frasier syndrome, MIM#136680
Review for gene: WT1 was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.9 TRIM37 Chirag Patel gene: TRIM37 was added
gene: TRIM37 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Wilms tumor, MONDO:0006058; Mulibrey nanism, MONDO:0009664; Mulibrey nanism, MIM#253250
Review for gene: TRIM37 was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.8 PALB2 Chirag Patel gene: PALB2 was added
gene: PALB2 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PALB2 were set to Wilms tumor, MONDO:0006058; Fanconi anemia complementation group N, MONDO:0012565; Fanconi anemia, complementation group N, MIM#610832
Review for gene: PALB2 was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.7 GPC3 Chirag Patel gene: GPC3 was added
gene: GPC3 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Wilms tumor, MONDO:0006058; Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602; Simpson-Golabi-Behmel syndrome, type 1, MIM#312870
Review for gene: GPC3 was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.6 DIS3L2 Chirag Patel gene: DIS3L2 was added
gene: DIS3L2 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Wilms tumor, MONDO:0006058; Perlman syndrome, MONDO:0009965; Perlman syndrome, MIM#267000
Review for gene: DIS3L2 was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.5 CDKN1C Chirag Patel gene: CDKN1C was added
gene: CDKN1C was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1C were set to Wilms tumor, MONDO:0006058; Beckwith-Wiedemann syndrome due to CDKN1C mutation, MONDO:0016476; Beckwith-Wiedemann syndrome, MIM#130650
Review for gene: CDKN1C was set to GREEN
Added comment: Established gene-disease association. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.4 BUB1B Chirag Patel gene: BUB1B was added
gene: BUB1B was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Wilms tumor, MONDO:0006058; Mosaic variegated aneuploidy syndrome 1, MONDO:0009759; Mosaic variegated aneuploidy syndrome 1, MIM#257300
Review for gene: BUB1B was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.3 BRCA2 Chirag Patel gene: BRCA2 was added
gene: BRCA2 was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Wilms tumor, MONDO:0006058; Fanconi anemia complementation group D1,MONDO:0011584; Fanconi anemia, complementation group D1, MIM#605724
Review for gene: BRCA2 was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.2 BLM Chirag Patel gene: BLM was added
gene: BLM was added to Wilms Tumour. Sources: Expert list,Expert Review
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Wilms tumor, MONDO:0006058; Bloom syndrome, MONDO:0008876; Bloom syndrome, MIM#210900
Review for gene: BLM was set to GREEN
Added comment: ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert Review
Wilms Tumour v0.0 Chirag Patel Added Panel Wilms Tumour
Set panel types to: Cancer Germline