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Wilms Tumour Predisposition v0.39 |
Zornitza Stark HPO terms changed from to Wilms tumour, MONDO:0006058 List of related panels changed from to Wilms tumour; MONDO:0006058 |
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Wilms Tumour Predisposition v0.38 | FBXW7 | Zornitza Stark reviewed gene: FBXW7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumour, hereditary, MONDO:0003321, FBXW7-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.38 | FBXW7 | Zornitza Stark Phenotypes for gene: FBXW7 were changed from Wilms tumour to Wilms tumour, hereditary, MONDO:0003321, FBXW7-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.37 | FBXW7 | Zornitza Stark Publications for gene: FBXW7 were set to PMID: 30885698; PMID: 26482194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.36 | FBXW7 | Zornitza Stark Classified gene: FBXW7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.36 | FBXW7 | Zornitza Stark Gene: fbxw7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.35 | FBXW7 | Nicola Poplawski reviewed gene: FBXW7: Rating: RED; Mode of pathogenicity: None; Publications: 35395208, 30885698, 28572459, 20332316; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.35 | DIS3L2 | Zornitza Stark Marked gene: DIS3L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.35 | DIS3L2 | Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.35 | DIS3L2 | Zornitza Stark Phenotypes for gene: DIS3L2 were changed from to Wilms tumour, MONDO:0006058, DIS3L2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.34 | DIS3L2 | Zornitza Stark Publications for gene: DIS3L2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.33 | DIS3L2 | Zornitza Stark Mode of inheritance for gene: DIS3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.32 | DIS3L2 | Zornitza Stark reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumour, MONDO:0006058, DIS3L2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.32 | DIS3L2 | Laura Raiti changed review comment from: 5 unrelated patients in an unselected cohort of children between 2015 - 2020 identified to have germline heterozygous pathogenic variant in DIS3L2 (two truncating variants, 3 deletions of exon 9). 4 of 5 had a second somatic hit in Wilms Tumour tissue.; to: 5 unrelated patients in an unselected cohort of children between 2015 - 2020 identified to have germline heterozygous pathogenic variant in DIS3L2 (two truncating variants, 3 deletions of exon 9). 4 of 5 had a second somatic hit in Wilms Tumour tissue. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.32 | DIS3L2 | Laura Raiti reviewed gene: DIS3L2: Rating: ; Mode of pathogenicity: None; Publications: 35230882; Phenotypes: Wilms Tumour; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.32 | CTCF | Zornitza Stark Marked gene: CTCF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.32 | CTCF | Zornitza Stark Gene: ctcf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.32 | CTCF | Zornitza Stark Classified gene: CTCF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.32 | CTCF | Zornitza Stark Gene: ctcf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.31 | CTCF |
Manny Jacobs gene: CTCF was added gene: CTCF was added to Wilms Tumour Predisposition. Sources: Literature Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTCF were set to PMID: 31239556; 23746550; 31239556; 35459888 Phenotypes for gene: CTCF were set to autosomal dominant intellectual developmental disorder 21, MONDO:0014213 (MIM# 615502) Penetrance for gene: CTCF were set to unknown Review for gene: CTCF was set to RED Added comment: PMID: 35459888 1 individual with delayed intellectual development and bilateral wilms tumour Dx at 2 years old. Sources: Literature |
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Wilms Tumour Predisposition v0.31 | TRIM28 | Zornitza Stark Phenotypes for gene: TRIM28 were changed from Wilm's tumour to Wilms tumour, MONDO:0006058, TRIM28-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.30 | TRIM28 | Zornitza Stark edited their review of gene: TRIM28: Changed phenotypes: Wilms tumour, MONDO:0006058, TRIM28-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.30 | REST | Zornitza Stark Marked gene: REST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.30 | REST | Zornitza Stark Gene: rest has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.30 | REST | Zornitza Stark Phenotypes for gene: REST were changed from to {Wilms tumor 6, susceptibility to}, MIM# 616806 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.29 | REST | Zornitza Stark Publications for gene: REST were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.28 | REST | Zornitza Stark Mode of inheritance for gene: REST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.27 | REST | Zornitza Stark reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: None; Publications: 26551668, 34308104; Phenotypes: {Wilms tumor 6, susceptibility to}, MIM# 616806; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.27 | PIK3CA | Zornitza Stark Marked gene: PIK3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.27 | PIK3CA | Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.27 | PIK3CA | Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.26 | PIK3CA | Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.25 | PIK3CA | Zornitza Stark Tag somatic tag was added to gene: PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.25 | PIK3CA | Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.25 | GPC4 | Zornitza Stark Marked gene: GPC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.25 | GPC4 | Zornitza Stark Gene: gpc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.25 | GPC4 | Zornitza Stark Classified gene: GPC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.25 | GPC4 | Zornitza Stark Gene: gpc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.24 | GPC4 | Zornitza Stark reviewed gene: GPC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.24 | GPC3 | Zornitza Stark Marked gene: GPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.24 | GPC3 | Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.24 | GPC3 | Zornitza Stark Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.24 | GPC3 | Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.23 | GPC3 | Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.22 | GPC3 | Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.22 | CTR9 | Zornitza Stark Marked gene: CTR9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.22 | CTR9 | Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.22 | CTR9 | Zornitza Stark Phenotypes for gene: CTR9 were changed from to Familial Wilms tumour, MONDO:0006058, CTR9-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.21 | CTR9 | Zornitza Stark Publications for gene: CTR9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.20 | CTR9 | Zornitza Stark Mode of inheritance for gene: CTR9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.19 | CTR9 | Zornitza Stark reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25099282, 29292210; Phenotypes: Familial Wilms tumour, MONDO:0006058, CTR9-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.19 | CDC73 | Zornitza Stark Marked gene: CDC73 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.19 | CDC73 | Zornitza Stark Gene: cdc73 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.19 | CDC73 | Zornitza Stark Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumor syndrome, MIM# 145001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.18 | CDC73 | Zornitza Stark Publications for gene: CDC73 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.17 | CDC73 | Zornitza Stark Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.16 | CDC73 | Zornitza Stark Classified gene: CDC73 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.16 | CDC73 | Zornitza Stark Gene: cdc73 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.15 | CDC73 | Zornitza Stark reviewed gene: CDC73: Rating: AMBER; Mode of pathogenicity: None; Publications: 7912571; Phenotypes: Hyperparathyroidism-jaw tumor syndrome, MIM# 145001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.15 | TRIM37 | Zornitza Stark Marked gene: TRIM37 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.15 | TRIM37 | Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.15 | TRIM37 | Zornitza Stark Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism, MIM# 253250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.14 | TRIM37 | Zornitza Stark Publications for gene: TRIM37 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.13 | TRIM37 | Zornitza Stark Mode of inheritance for gene: TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.12 | TRIM37 | Zornitza Stark reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 34309235, 19334051, 17100991; Phenotypes: Mulibrey nanism, MIM# 253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.12 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.11 | NYNRIN | Zornitza Stark Marked gene: NYNRIN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.11 | NYNRIN | Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.11 | NYNRIN | Zornitza Stark Phenotypes for gene: NYNRIN were changed from to Wilms tumour predisposition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.10 | NYNRIN | Zornitza Stark Classified gene: NYNRIN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.10 | NYNRIN | Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.9 | FBXW7 | Zornitza Stark Marked gene: FBXW7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.9 | FBXW7 | Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.9 | FBXW7 | Zornitza Stark Marked gene: FBXW7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.9 | FBXW7 | Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.9 | FBXW7 | Zornitza Stark Phenotypes for gene: FBXW7 were changed from to Wilms tumour | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.8 | FBXW7 | Zornitza Stark Classified gene: FBXW7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.8 | FBXW7 | Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.7 | NYNRIN | Laura Raiti Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.7 | NYNRIN |
Laura Raiti commented on gene: NYNRIN: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family). Biallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations. One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability. |
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Wilms Tumour Predisposition v0.7 | NYNRIN |
Laura Raiti gene: NYNRIN was added gene: NYNRIN was added to Wilms Tumour Predisposition. Sources: Literature Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NYNRIN were set to PMID: 30885698 Review for gene: NYNRIN was set to AMBER Added comment: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family). Biallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations. One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability. Sources: Literature |
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Wilms Tumour Predisposition v0.7 | FBXW7 |
Laura Raiti gene: FBXW7 was added gene: FBXW7 was added to Wilms Tumour Predisposition. Sources: 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; PMID: 26482194 Review for gene: FBXW7 was set to GREEN Added comment: PMID: 30885698 4 individuals with germline truncating variants in FBXW7. Highly intolerant to protein-truncating variants with pLI score= 1. - 1 of these 4 individuals developed a second malignancy (osteosarcoma) as an adult in addition to childhood Wilms tumour. PMID: 26482194 1 patient with Hodgkin lymphoma, adult Wilms tumour, early-onset breast cancer with a constitutional FBXW7 deletion was reported Sources: Literature |
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Wilms Tumour Predisposition v0.7 | ASXL1 | Zornitza Stark Marked gene: ASXL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.7 | ASXL1 | Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.7 | ASXL1 | Zornitza Stark Classified gene: ASXL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.7 | ASXL1 | Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.6 | ASXL1 |
Laura Raiti gene: ASXL1 was added gene: ASXL1 was added to Wilms Tumour Predisposition. Sources: Literature Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASXL1 were set to PMID: 29446906 Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome , MIM#605039 Review for gene: ASXL1 was set to GREEN Added comment: Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population. Recommended surveillance: Renal ultrasound every three months from birth to age eight to screen for the development of Wilms tumor; frequent monitoring of growth and development; close monitoring of feeding intolerance with a gastroenterology specialist; regular follow up for vision optimization. Sources: Literature |
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Wilms Tumour Predisposition v0.6 |
Sebastian Lunke Panel name changed from Wilms Tumour Predisposition_VCGS to Wilms Tumour Predisposition Panel types changed to Victorian Clinical Genetics Services |
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Wilms Tumour Predisposition v0.5 | TRIM28 | Zornitza Stark Marked gene: TRIM28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.5 | TRIM28 | Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.5 | TRIM28 | Zornitza Stark Classified gene: TRIM28 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.5 | TRIM28 | Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.4 | TRIM28 |
Zornitza Stark gene: TRIM28 was added gene: TRIM28 was added to Wilms Tumour Predisposition_VCGS. Sources: Literature Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM28 were set to 30694527 Phenotypes for gene: TRIM28 were set to Wilm's tumour Review for gene: TRIM28 was set to GREEN Added comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development. Sources: Literature |
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Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Marked gene: BRCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Added comment: Comment when marking as ready: Evidence for WT predisposition in Fanconi anaemia caused by bi-allelic BRCA2 variants. Note only a single family where heterozygous variant reported, so insufficient evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Publications for gene: BRCA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.2 | BRCA2 | Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.1 | BRCA2 | Chris Richmond reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15689453, 16857697; Phenotypes: Fanconi anemia, complementation group D1 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.0 | TRIM37 |
Zornitza Stark gene: TRIM37 was added gene: TRIM37 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRIM37 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | PIK3CA |
Zornitza Stark gene: PIK3CA was added gene: PIK3CA was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3CA was set to Unknown |
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Wilms Tumour Predisposition v0.0 | GPC4 |
Zornitza Stark gene: GPC4 was added gene: GPC4 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPC4 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | DICER1 |
Zornitza Stark gene: DICER1 was added gene: DICER1 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DICER1 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | BLM |
Zornitza Stark gene: BLM was added gene: BLM was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BLM was set to Unknown |
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Wilms Tumour Predisposition v0.0 | CTR9 |
Zornitza Stark gene: CTR9 was added gene: CTR9 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTR9 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | BUB1B |
Zornitza Stark gene: BUB1B was added gene: BUB1B was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BUB1B was set to Unknown |
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Wilms Tumour Predisposition v0.0 | PALB2 |
Zornitza Stark gene: PALB2 was added gene: PALB2 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PALB2 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | TP53 |
Zornitza Stark gene: TP53 was added gene: TP53 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TP53 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BRCA2 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | REST |
Zornitza Stark gene: REST was added gene: REST was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: REST was set to Unknown |
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Wilms Tumour Predisposition v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPC3 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | DIS3L2 |
Zornitza Stark gene: DIS3L2 was added gene: DIS3L2 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DIS3L2 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | CDKN1C |
Zornitza Stark gene: CDKN1C was added gene: CDKN1C was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDKN1C was set to Unknown |
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Wilms Tumour Predisposition v0.0 | CDC73 |
Zornitza Stark gene: CDC73 was added gene: CDC73 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDC73 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | WT1 |
Zornitza Stark gene: WT1 was added gene: WT1 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WT1 was set to Unknown |
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Wilms Tumour Predisposition v0.0 | Zornitza Stark Added panel Wilms Tumour Predisposition_VCGS |