PanelApp (test)

Activity

Filter

Cancel
Date Panel Item Activity
393 actions
Cancer Predisposition_Paediatric v0.131 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to ATR-X-related syndrome MONDO:0016980; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.
Cancer Predisposition_Paediatric v0.130 ATRX Zornitza Stark Marked gene: ATRX as ready
Cancer Predisposition_Paediatric v0.130 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.130 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.
Cancer Predisposition_Paediatric v0.129 ATRX Zornitza Stark Classified gene: ATRX as Green List (high evidence)
Cancer Predisposition_Paediatric v0.129 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.128 ATRX Laura Raiti gene: ATRX was added
gene: ATRX was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to PMID: 28371217, 29706636, 28371197
Phenotypes for gene: ATRX were set to Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.
Penetrance for gene: ATRX were set to unknown
Review for gene: ATRX was set to GREEN
Added comment: Early onset osteosarcoma and development of metachronous osteosarcoma tumours suggestive of cancer predisposition.
Small numbers but at least 3 unrelated individuals reported in literature.
Sources: Literature
Cancer Predisposition_Paediatric v0.128 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from Predisposition to cancer to Wilms tumour, hereditary, MONDO:0003321, FBXW7-related
Cancer Predisposition_Paediatric v0.127 FBXW7 Zornitza Stark Classified gene: FBXW7 as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.127 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.126 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
Cancer Predisposition_Paediatric v0.126 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Cancer Predisposition_Paediatric v0.126 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.126 TRIM37 Zornitza Stark Classified gene: TRIM37 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.126 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.125 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Cancer Predisposition_Paediatric. Sources: Expert Review
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM37 were set to 34309235; 19334051; 17100991
Phenotypes for gene: TRIM37 were set to Mulibrey nanism, MIM# 253250
Review for gene: TRIM37 was set to GREEN
Added comment: Multiple reports of WT with mulibrey nanism.
Sources: Expert Review
Cancer Predisposition_Paediatric v0.124 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Cancer Predisposition_Paediatric v0.124 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.124 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.124 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.123 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to Cancer Predisposition_Paediatric. Sources: Expert Review
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 Wilms tumour, MONDO:0006058, TRIM28-related
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: Expert Review
Cancer Predisposition_Paediatric v0.122 REST Zornitza Stark Marked gene: REST as ready
Cancer Predisposition_Paediatric v0.122 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.122 REST Zornitza Stark Classified gene: REST as Green List (high evidence)
Cancer Predisposition_Paediatric v0.122 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.121 REST Zornitza Stark gene: REST was added
gene: REST was added to Cancer Predisposition_Paediatric. Sources: Expert Review
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REST were set to 26551668; 34308104
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to}, MIM# 616806
Review for gene: REST was set to GREEN
Added comment: More than 10 families reported.
Sources: Expert Review
Cancer Predisposition_Paediatric v0.120 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Cancer Predisposition_Paediatric v0.120 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.120 PIK3CA Zornitza Stark Classified gene: PIK3CA as Green List (high evidence)
Cancer Predisposition_Paediatric v0.120 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.119 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Cancer Predisposition_Paediatric. Sources: Expert Review
somatic tags were added to gene: PIK3CA.
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501
Review for gene: PIK3CA was set to GREEN
Added comment: MCAP syndrome is associated with increased risk of Wilm's tumour, and other neoplasms (leukaemia, meningioma).
Sources: Expert Review
Cancer Predisposition_Paediatric v0.118 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Cancer Predisposition_Paediatric v0.118 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.118 GPC3 Zornitza Stark Classified gene: GPC3 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.118 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.117 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Cancer Predisposition_Paediatric. Sources: 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 Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Review for gene: GPC3 was set to GREEN
Added comment: Increased risk of Wilms tumour and embryonal tumours is a feature of Simpson-Golabi-Behmel syndrome.
Sources: Expert Review
Cancer Predisposition_Paediatric v0.116 CTR9 Zornitza Stark Marked gene: CTR9 as ready
Cancer Predisposition_Paediatric v0.116 CTR9 Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.116 CTR9 Zornitza Stark Classified gene: CTR9 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.116 CTR9 Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.115 CTR9 Zornitza Stark gene: CTR9 was added
gene: CTR9 was added to Cancer Predisposition_Paediatric. Sources: Expert Review
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTR9 were set to 25099282; 29292210
Phenotypes for gene: CTR9 were set to Familial Wilms tumour, MONDO:0006058, CTR9-related
Review for gene: CTR9 was set to GREEN
Added comment: Four unrelated families reported, where germline variants segregated with disease. Postulated to be a tumour suppressor gene.

Note variants in this gene have also been associated with a neurodevelopmental disorder.
Sources: Expert Review
Cancer Predisposition_Paediatric v0.114 TRIP13 Zornitza Stark Classified gene: TRIP13 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.114 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.113 TRIP13 Zornitza Stark changed review comment from: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect.; to: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect. Functional data.
Cancer Predisposition_Paediatric v0.113 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Cancer Predisposition_Paediatric v0.113 WRN Zornitza Stark Marked gene: WRN as ready
Cancer Predisposition_Paediatric v0.113 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.113 WRN Zornitza Stark Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196
Cancer Predisposition_Paediatric v0.112 WRN Zornitza Stark Publications for gene: WRN were set to
Cancer Predisposition_Paediatric v0.111 WRN Zornitza Stark Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.110 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236, 8602509, 8968742, 9012406; Phenotypes: Werner syndrome, MIM# 277700, MONDO:0010196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.110 FBXW7 Zornitza Stark Marked gene: FBXW7 as ready
Cancer Predisposition_Paediatric v0.110 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.110 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from to Predisposition to cancer
Cancer Predisposition_Paediatric v0.109 FBXW7 Zornitza Stark Classified gene: FBXW7 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.109 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.108 BLM Zornitza Stark Marked gene: BLM as ready
Cancer Predisposition_Paediatric v0.108 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.108 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies
Cancer Predisposition_Paediatric v0.107 BLM Zornitza Stark Publications for gene: BLM were set to
Cancer Predisposition_Paediatric v0.106 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.105 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900, Short stature, dysmorphic facies, sun-sensitive, immunoglobulin deficiency (IgA, IgG, IgM), erythema, marrow failure, leukaemia, lymphoma, chromosomal instability, predisposition to malignancies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Marked gene: KDM3B as ready
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from to Diets-Jongmans syndrome, MIM# 618846; Cancer predisposition
Cancer Predisposition_Paediatric v0.104 KDM3B Zornitza Stark Classified gene: KDM3B as Green List (high evidence)
Cancer Predisposition_Paediatric v0.104 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Marked gene: NYNRIN as ready
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Phenotypes for gene: NYNRIN were changed from to Wilms tumour predisposition
Cancer Predisposition_Paediatric v0.102 NYNRIN Zornitza Stark Classified gene: NYNRIN as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.102 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.101 KDM3B Laura Raiti gene: KDM3B was added
gene: KDM3B was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 30885698; 29351919
Review for gene: KDM3B was set to GREEN
Added comment: PMID: 30885698
2 two de-novo KDM3B mutations identified.
- 1 child (missense mutation) with Wilms tumour and a hyperpigmented lesion on her
buttock
- 1 child (truncating variant) with hepatoblastoma, hyperpigmentation and hypopigmentation, autism, and intellectual disability

PMID: 29351919
2 individuals with KDM3B variants
- 1 individual had a KDM3B truncating variant with acute myeloid leukaemia, mild intellectual disability, and hip dysplasia
- 1 individual had a de novo missense KDM3B with Hodgkins lymphoma and
moderate intellectual disability.
KDM3B is highly intolerant to both protein-truncating variants (pLI=1·00)
and non-synonymous variation (Z=4·99; the Z score is the
deviation of observation from expectation for non-synonymous variants).

KDM3B is involved in H3K9 demethylation, which is part of chromatin remodeling. Mutations in several components of chromatin remodeling pathways have been found to cause both syndromes characterized by ID and syndromes with cancer predisposition
Sources: Literature
Cancer Predisposition_Paediatric v0.101 NYNRIN Laura Raiti gene: NYNRIN was added
gene: NYNRIN was added to Cancer Predisposition_Paediatric. 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
Cancer Predisposition_Paediatric v0.101 FBXW7 Laura Raiti gene: FBXW7 was added
gene: FBXW7 was added to Cancer Predisposition_Paediatric. 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 individual developed a second malignancy (osteosarcoma) as an adult in addition to childhood Wilms tumour.
- 1 individual had a de novo missense variant (a child with an extra-renal rhabdoid tumour)

PMID: 26482194
1 patient with Hodgkin lymphoma, adult Wilms tumour, early-onset breast cancer, and a constitutional FBXW7 deletion was reported
Sources: Literature
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Classified gene: ASXL1 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.100 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Cancer Predisposition_Paediatric. Sources: Expert Review
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASXL1 were set to 29446906
Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome , MIM#605039; Wilms tumour
Review for gene: ASXL1 was set to GREEN
Added comment: Case reports suggest that individuals with BOS are at greater risk for Wilms tumour than the general population.
Recommended surveillance: Renal ultrasound every three months from birth to age eight to screen for the development of Wilms tumour.
Sources: Expert Review
Cancer Predisposition_Paediatric v0.99 FANCA Zornitza Stark Marked gene: FANCA as ready
Cancer Predisposition_Paediatric v0.99 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.99 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Cancer Predisposition_Paediatric v0.98 FANCA Zornitza Stark Publications for gene: FANCA were set to
Cancer Predisposition_Paediatric v0.97 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.96 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.96 NBN Zornitza Stark Marked gene: NBN as ready
Cancer Predisposition_Paediatric v0.96 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.96 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Cancer Predisposition_Paediatric v0.95 NBN Zornitza Stark Publications for gene: NBN were set to
Cancer Predisposition_Paediatric v0.94 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.93 NBN Zornitza Stark reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.93 PAX5 Zornitza Stark Marked gene: PAX5 as ready
Cancer Predisposition_Paediatric v0.93 PAX5 Zornitza Stark Gene: pax5 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.93 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from to {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545
Cancer Predisposition_Paediatric v0.92 PAX5 Zornitza Stark Publications for gene: PAX5 were set to
Cancer Predisposition_Paediatric v0.91 PAX5 Zornitza Stark Mode of inheritance for gene: PAX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.90 PAX5 Zornitza Stark reviewed gene: PAX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24013638, 30643249, 33036026; Phenotypes: {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Cancer Predisposition_Paediatric v0.89 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Cancer Predisposition_Paediatric v0.88 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.87 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.87 CBL Zornitza Stark Marked gene: CBL as ready
Cancer Predisposition_Paediatric v0.87 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.87 CBL Zornitza Stark Phenotypes for gene: CBL were changed from to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Cancer Predisposition_Paediatric v0.86 CBL Zornitza Stark Publications for gene: CBL were set to
Cancer Predisposition_Paediatric v0.85 CBL Zornitza Stark Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cancer Predisposition_Paediatric v0.84 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.83 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.83 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Cancer Predisposition_Paediatric v0.83 TRIP13 Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.83 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.82 TRIP13 Zornitza Stark changed review comment from: Predisposition to Wilms tumour, six unrelated individuals reported.; to: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect.
Cancer Predisposition_Paediatric v0.82 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: AMBER
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Marked gene: SDHD as ready
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300
Cancer Predisposition_Paediatric v0.81 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.80 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Marked gene: SDHC as ready
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373
Cancer Predisposition_Paediatric v0.79 SDHC Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.78 SDHC Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Marked gene: SDHB as ready
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310
Cancer Predisposition_Paediatric v0.77 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.76 SDHB Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Cancer Predisposition_Paediatric v0.75 SDHAF2 Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.74 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Marked gene: SDHA as ready
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Paragangliomas 5, MIM# 614165
Cancer Predisposition_Paediatric v0.73 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.72 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 5, MIM# 614165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Leukemia, acute myeloid, MIM# 601626
Cancer Predisposition_Paediatric v0.71 RUNX1 Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.70 RUNX1 Zornitza Stark reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Cancer Predisposition_Paediatric v0.69 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Cancer Predisposition_Paediatric v0.68 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.67 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Cancer Predisposition_Paediatric v0.67 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: ; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Cancer Predisposition_Paediatric v0.66 TMEM127 Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.65 TMEM127 Zornitza Stark Classified gene: TMEM127 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.65 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.64 TMEM127 Zornitza Stark reviewed gene: TMEM127: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.64 RAD51C Zornitza Stark Classified gene: RAD51C as Red List (low evidence)
Cancer Predisposition_Paediatric v0.64 RAD51C Zornitza Stark Gene: rad51c has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark changed review comment from: Two families reported, paediatric tumour risk to be established.; to: Two families reported with congenital anomalies only, paediatric tumour risk to be established.
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark edited their review of gene: RAD51C: Changed rating: RED
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Cancer Predisposition_Paediatric v0.62 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Cancer Predisposition_Paediatric v0.61 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.60 RAD51C Zornitza Stark Classified gene: RAD51C as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.60 RAD51C Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.59 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456
Cancer Predisposition_Paediatric v0.58 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.58 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.57 MUTYH Zornitza Stark Classified gene: MUTYH as Red List (low evidence)
Cancer Predisposition_Paediatric v0.57 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.56 MUTYH Zornitza Stark reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark edited their review of gene: MAX: Changed rating: RED
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Marked gene: MAX as ready
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Cancer Predisposition_Paediatric v0.55 MAX Zornitza Stark Publications for gene: MAX were set to
Cancer Predisposition_Paediatric v0.54 MAX Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.53 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Marked gene: HRAS as ready
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040
Cancer Predisposition_Paediatric v0.52 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.51 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to {Leukemia, acute myeloid, susceptibility to}, MIM# 601626
Cancer Predisposition_Paediatric v0.50 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.49 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leukemia, acute myeloid, susceptibility to}, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Marked gene: FH as ready
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Phenotypes for gene: FH were changed from to Leiomyomatosis and renal cell cancer, MIM# 150800
Cancer Predisposition_Paediatric v0.48 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.47 FH Zornitza Stark Classified gene: FH as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.47 FH Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.46 FH Zornitza Stark reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leiomyomatosis and renal cell cancer, MIM# 150800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244
Cancer Predisposition_Paediatric v0.45 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.44 EPCAM Zornitza Stark Classified gene: EPCAM as Red List (low evidence)
Cancer Predisposition_Paediatric v0.44 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.43 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Classified gene: DIS3L2 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.42 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Cancer Predisposition_Paediatric. Sources: Expert list
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000
Review for gene: DIS3L2 was set to GREEN
Added comment: Increased risk of Wilms tumour.
Sources: Expert list
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Marked gene: CEBPA as ready
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Gene: cebpa has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, MIM# 601626
Cancer Predisposition_Paediatric v0.40 CEBPA Zornitza Stark Publications for gene: CEBPA were set to
Cancer Predisposition_Paediatric v0.39 CEBPA Zornitza Stark Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.38 CEBPA Zornitza Stark reviewed gene: CEBPA: Rating: ; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Phenotypes for gene: CDKN2A were changed from to Familial Malignant Melanoma and Tumors of the Nervous system; Familial Uveal Melanoma; Pancreatic cancer
Cancer Predisposition_Paediatric v0.37 CDKN2A Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.36 CDKN2A Zornitza Stark Classified gene: CDKN2A as Red List (low evidence)
Cancer Predisposition_Paediatric v0.36 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.35 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma, Pancreatic cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from to {Melanoma, cutaneous malignant, 3}, MIM# 609048
Cancer Predisposition_Paediatric v0.34 CDK4 Zornitza Stark Mode of inheritance for gene: CDK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.33 CDK4 Zornitza Stark Classified gene: CDK4 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.33 CDK4 Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.32 CDK4 Zornitza Stark reviewed gene: CDK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 3}, MIM# 609048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Phenotypes for gene: CDH1 were changed from to Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215
Cancer Predisposition_Paediatric v0.31 CDH1 Zornitza Stark Mode of inheritance for gene: CDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.30 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Phenotypes for gene: CDC73 were changed from to Parathyroid carcinoma, MIM# 608266
Cancer Predisposition_Paediatric v0.29 CDC73 Zornitza Stark Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.28 CDC73 Zornitza Stark Classified gene: CDC73 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.28 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.27 CDC73 Zornitza Stark reviewed gene: CDC73: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parathyroid carcinoma, MIM# 608266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Classified gene: BUB1B as Green List (high evidence)
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.26 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Cancer Predisposition_Paediatric. Sources: Expert list
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1B were set to 31081598; 31053147
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Review for gene: BUB1B was set to GREEN
Added comment: Syndrome with increased tumour risk: Wilms tumor, nephroblastoma, rhabdomyosarcoma, leukaemia.
Sources: Expert list
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Phenotypes for gene: BAP1 were changed from to Tumor predisposition syndrome, MIM# 614327
Cancer Predisposition_Paediatric v0.24 BAP1 Zornitza Stark Publications for gene: BAP1 were set to
Cancer Predisposition_Paediatric v0.23 BAP1 Zornitza Stark Mode of inheritance for gene: BAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.22 BAP1 Zornitza Stark Classified gene: BAP1 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.22 BAP1 Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.21 BAP1 Zornitza Stark reviewed gene: BAP1: Rating: RED; Mode of pathogenicity: None; Publications: 21941004, 23684012, 21874000, 21874003; Phenotypes: Tumor predisposition syndrome, MIM# 614327; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.21 SH2B3 Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.20 SH2B3 Zornitza Stark Marked gene: SH2B3 as ready
Cancer Predisposition_Paediatric v0.20 SH2B3 Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.20 SH2B3 Zornitza Stark Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies
Cancer Predisposition_Paediatric v0.19 SH2B3 Zornitza Stark Publications for gene: SH2B3 were set to
Cancer Predisposition_Paediatric v0.19 SH2B3 Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Unknown to Other
Cancer Predisposition_Paediatric v0.18 SH2B3 Chern Lim reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26457647, 23908464, 31102422, 31173385; Phenotypes: Predisposition to haematological malignancies; Mode of inheritance: Other
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Marked gene: FANCM as ready
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Cancer Predisposition_Paediatric v0.17 FANCM Zornitza Stark Publications for gene: FANCM were set to
Cancer Predisposition_Paediatric v0.16 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.15 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Cancer Predisposition_Paediatric v0.15 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.14 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.14 GPR161 Zornitza Stark Marked gene: GPR161 as ready
Cancer Predisposition_Paediatric v0.14 GPR161 Zornitza Stark Gene: gpr161 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.14 GPR161 Zornitza Stark Classified gene: GPR161 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.14 GPR161 Zornitza Stark Gene: gpr161 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.13 GPR161 Zornitza Stark gene: GPR161 was added
gene: GPR161 was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPR161 were set to 31609649
Phenotypes for gene: GPR161 were set to Predisposition to paediatric medulloblastoma
Review for gene: GPR161 was set to GREEN
Added comment: 6 unrelated individuals reported with germline variants, 5 with truncating, one missense. Somatic second hit in tumour tissue.
Sources: Literature
Cancer Predisposition_Paediatric v0.12 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Cancer Predisposition_Paediatric v0.12 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.12 ELP1 Bryony Thompson Classified gene: ELP1 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.12 ELP1 Bryony Thompson Gene: elp1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.11 ELP1 Bryony Thompson gene: ELP1 was added
gene: ELP1 was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP1 were set to 32296180
Phenotypes for gene: ELP1 were set to Paediatric medulloblastoma sonic hedgehog subtype
Review for gene: ELP1 was set to GREEN
Added comment: Medulloblastoma predisposition: association identified for heterozygous ELP1 loss of function variants with paediatric medulloblastoma with exome-wide significance, specifically associated with the sonic hedgehog (SHH) subtype. Association was validated in additional paediatric cohorts. Monoallelic germline loss of function variants identified in 29/202 paediatric medulloblastoma SHH cases (absent from adult patients) and loss of heterozygosity of the ELP1 wild-type allele was present in all tumours. Segregation was reported in one family and expected in another.
Sources: Literature
Cancer Predisposition_Paediatric v0.10 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cancer Predisposition_Paediatric v0.9 Zornitza Stark Panel name changed from Cancer Predisposition_Paediatric_VCGS to Cancer Predisposition_Paediatric
Panel types changed to Victorian Clinical Genetics Services
Cancer Predisposition_Paediatric v0.8 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Cancer Predisposition_Paediatric v0.8 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.8 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.7 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Cancer Predisposition_Paediatric v0.6 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Cancer Predisposition_Paediatric v0.5 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.5 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Marked gene: CHEK2 as ready
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Classified gene: CHEK2 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.3 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.2 CHEK2 Zornitza Stark gene: CHEK2 was added
gene: CHEK2 was added to Cancer Predisposition_Paediatric_VCGS. Sources: Expert Review
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHEK2 were set to 10617473
Phenotypes for gene: CHEK2 were set to Li-Fraumeni syndrome, MIM#609265
Review for gene: CHEK2 was set to GREEN
Added comment: Affected individuals from three unrelated families reported originally.
Sources: Expert Review
Cancer Predisposition_Paediatric v0.1 Zornitza Stark Panel name changed from Paediatric Cancer Predisposition_VCGS to Cancer Predisposition_Paediatric_VCGS
Cancer Predisposition_Paediatric v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPC was set to Unknown
Cancer Predisposition_Paediatric v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPA was set to Unknown
Cancer Predisposition_Paediatric v0.0 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WT1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to Unknown
Cancer Predisposition_Paediatric v0.0 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VHL was set to Unknown
Cancer Predisposition_Paediatric v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSC2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSC1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 TRIP13 Zornitza Stark gene: TRIP13 was added
gene: TRIP13 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP13 was set to Unknown
Cancer Predisposition_Paediatric v0.0 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TP53 was set to Unknown
Cancer Predisposition_Paediatric v0.0 TMEM127 Zornitza Stark gene: TMEM127 was added
gene: TMEM127 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM127 was set to Unknown
Cancer Predisposition_Paediatric v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TERT was set to Unknown
Cancer Predisposition_Paediatric v0.0 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUFU was set to Unknown
Cancer Predisposition_Paediatric v0.0 STK11 Zornitza Stark gene: STK11 was added
gene: STK11 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STK11 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOS1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCB1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCA4 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD4 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHOC2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SH2B3 Zornitza Stark gene: SH2B3 was added
gene: SH2B3 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SH2B3 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHD was set to Unknown
Cancer Predisposition_Paediatric v0.0 SDHC Zornitza Stark gene: SDHC was added
gene: SDHC was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHC was set to Unknown
Cancer Predisposition_Paediatric v0.0 SDHB Zornitza Stark gene: SDHB was added
gene: SDHB was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHB was set to Unknown
Cancer Predisposition_Paediatric v0.0 SDHAF2 Zornitza Stark gene: SDHAF2 was added
gene: SDHAF2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHAF2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHA was set to Unknown
Cancer Predisposition_Paediatric v0.0 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RUNX1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to Unknown
Cancer Predisposition_Paediatric v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RECQL4 was set to Unknown
Cancer Predisposition_Paediatric v0.0 RB1 Zornitza Stark gene: RB1 was added
gene: RB1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RB1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAF1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51C was set to Unknown
Cancer Predisposition_Paediatric v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPN11 was set to Unknown
Cancer Predisposition_Paediatric v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTEN was set to Unknown
Cancer Predisposition_Paediatric v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTCH1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKAR1A was set to Unknown
Cancer Predisposition_Paediatric v0.0 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMS2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 PHOX2B Zornitza Stark gene: PHOX2B was added
gene: PHOX2B was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHOX2B was set to Unknown
Cancer Predisposition_Paediatric v0.0 PAX5 Zornitza Stark gene: PAX5 was added
gene: PAX5 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX5 was set to Unknown
Cancer Predisposition_Paediatric v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PALB2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NRAS was set to Unknown
Cancer Predisposition_Paediatric v0.0 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOP10 was set to Unknown
Cancer Predisposition_Paediatric v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHP2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NBN was set to Unknown
Cancer Predisposition_Paediatric v0.0 MUTYH Zornitza Stark gene: MUTYH was added
gene: MUTYH was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MUTYH was set to Unknown
Cancer Predisposition_Paediatric v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSH6 was set to Unknown
Cancer Predisposition_Paediatric v0.0 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSH2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MLH1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MEN1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 MAX Zornitza Stark gene: MAX was added
gene: MAX was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAX was set to Unknown
Cancer Predisposition_Paediatric v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRAS was set to Unknown
Cancer Predisposition_Paediatric v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HRAS was set to Unknown
Cancer Predisposition_Paediatric v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FH was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCM was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCL was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCI was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCG was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCF was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCE was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCD2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCC was set to Unknown
Cancer Predisposition_Paediatric v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCA was set to Unknown
Cancer Predisposition_Paediatric v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC5 was set to Unknown
Cancer Predisposition_Paediatric v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC4 was set to Unknown
Cancer Predisposition_Paediatric v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC3 was set to Unknown
Cancer Predisposition_Paediatric v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPCAM was set to Unknown
Cancer Predisposition_Paediatric v0.0 DICER1 Zornitza Stark gene: DICER1 was added
gene: DICER1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DICER1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDB2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 CEBPA Zornitza Stark gene: CEBPA was added
gene: CEBPA was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEBPA was set to Unknown
Cancer Predisposition_Paediatric v0.0 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN2A was set to Unknown
Cancer Predisposition_Paediatric v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1C was set to Unknown
Cancer Predisposition_Paediatric v0.0 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK4 was set to Unknown
Cancer Predisposition_Paediatric v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDH1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 CDC73 Zornitza Stark gene: CDC73 was added
gene: CDC73 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDC73 was set to Unknown
Cancer Predisposition_Paediatric v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CBL was set to Unknown
Cancer Predisposition_Paediatric v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRIP1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRCA2 was set to Unknown
Cancer Predisposition_Paediatric v0.0 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRCA1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRAF was set to Unknown
Cancer Predisposition_Paediatric v0.0 BMPR1A Zornitza Stark gene: BMPR1A was added
gene: BMPR1A was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMPR1A was set to Unknown
Cancer Predisposition_Paediatric v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLM was set to Unknown
Cancer Predisposition_Paediatric v0.0 BAP1 Zornitza Stark gene: BAP1 was added
gene: BAP1 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BAP1 was set to Unknown
Cancer Predisposition_Paediatric v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATM was set to Unknown
Cancer Predisposition_Paediatric v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APC was set to Unknown
Cancer Predisposition_Paediatric v0.0 ALK Zornitza Stark gene: ALK was added
gene: ALK was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALK was set to Unknown
Cancer Predisposition_Paediatric v0.0 Zornitza Stark Added panel Paediatric Cancer Predisposition_VCGS