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Childhood solid tumours v4.18 | KDM3B | Achchuthan Shanmugasundram Classified gene: KDM3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.18 | KDM3B |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are four cases reported with KDM3B variants and with cancer, of which three cases are childhood solid tumours (two cases with Wilms tumour and one case with Hodgkin lymphoma), while the fourth case had acute myeloid leukaemia in childhood. Hence, this gene can be promoted to green rating in the next GMS review. |
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Childhood solid tumours v4.18 | KDM3B | Achchuthan Shanmugasundram Gene: kdm3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.17 | KDM3B | Achchuthan Shanmugasundram Phenotypes for gene: KDM3B were changed from Diets-Jongmans syndrome to Diets-Jongmans syndrome, OMIM:618846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.16 | KDM3B | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: KDM3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.16 | KDM3B | Achchuthan Shanmugasundram reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30885698, 30929739; Phenotypes: Diets-Jongmans syndrome, OMIM:618846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.16 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund Thomson Syndrome; 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.15 | PDGFRA | Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic 606764; Familial GIST; Gastrointestinal stromal tumor, somatic, 606764 to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Familial Gastrointestinal stromal tumour; Familial GIST | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.14 | CDKN2A | Arina Puzriakova Classified gene: CDKN2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.14 | CDKN2A |
Arina Puzriakova Added comment: Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumours, including cutaneous melanoma, pancreatic cancer and tumours of the nervous system such as astrocytomas. Onset is typically in adulthood but following specialist review, it was agreed that it is appropriate to include the CDKN2A gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS). |
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Childhood solid tumours v4.14 | CDKN2A | Arina Puzriakova Gene: cdkn2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.13 | CDKN2A |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: CDKN2A. Tag Q4_23_NHS_review tag was added to gene: CDKN2A. |
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Childhood solid tumours v4.13 | CDKN2A | Arina Puzriakova Phenotypes for gene: CDKN2A were changed from cutaneous melanoma; pancreatic cancer; astrocytomas to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.12 | BAP1 |
Arina Puzriakova changed review comment from: Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma. Onset is typically in adulthood but following specialist review it was agreed that it is appropriate to include the BAP1 gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS).; to: Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma. Onset is typically in adulthood but following specialist review, it was agreed that it is appropriate to include the BAP1 gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS). |
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Childhood solid tumours v4.12 | BAP1 |
Arina Puzriakova changed review comment from: Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma. Onset is typically in adulthood but following specialist review it was agreed that it is appropriate to include the BAP1 gene on this panel, as reviewed by Terri McVeigh (The Royal Marsden NHS).; to: Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma. Onset is typically in adulthood but following specialist review it was agreed that it is appropriate to include the BAP1 gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS). |
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Childhood solid tumours v4.12 | BAP1 | Arina Puzriakova Classified gene: BAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.12 | BAP1 |
Arina Puzriakova Added comment: Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma. Onset is typically in adulthood but following specialist review it was agreed that it is appropriate to include the BAP1 gene on this panel, as reviewed by Terri McVeigh (The Royal Marsden NHS). |
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Childhood solid tumours v4.12 | BAP1 | Arina Puzriakova Gene: bap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.11 | BAP1 |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: BAP1. Tag Q4_23_NHS_review tag was added to gene: BAP1. |
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Childhood solid tumours v4.11 | BAP1 | Arina Puzriakova Phenotypes for gene: BAP1 were changed from uveal melanoma; mesothelioma; cholangiocarcioma; cutaneous melanoma; renal cell carcinoma; meningioma to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.10 | NOTCH3 | Arina Puzriakova Phenotypes for gene: NOTCH3 were changed from Infantile myofibromatosis to ?Myofibromatosis, infantile 2, OMIM:615293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.9 | CDKN2A |
Terri McVeigh gene: CDKN2A was added gene: CDKN2A was added to Childhood solid tumours. Sources: Expert Review,Literature Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN2A were set to 24451801; 30207590 Phenotypes for gene: CDKN2A were set to cutaneous melanoma; pancreatic cancer; astrocytomas Penetrance for gene: CDKN2A were set to Incomplete Review for gene: CDKN2A was set to GREEN Added comment: Discussed at UKCGG/cancer leads meeting 06/07/2023 - agreed reasonable to include on panel Sources: Expert Review, Literature |
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Childhood solid tumours v4.9 | BAP1 |
Terri McVeigh gene: BAP1 was added gene: BAP1 was added to Childhood solid tumours. Sources: Expert Review Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAP1 were set to 23552620; 30517737; 31382694; https://doi.org/10.1016/j.ejcped.2023.100023; 29981911 Phenotypes for gene: BAP1 were set to uveal melanoma; mesothelioma; cholangiocarcioma; cutaneous melanoma; renal cell carcinoma; meningioma Penetrance for gene: BAP1 were set to Incomplete Review for gene: BAP1 was set to GREEN Added comment: Discussed at UKCGG/cancer leads meeting 06/07/2023 - agreed reasonable to include on panel Sources: Expert Review |
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Childhood solid tumours v4.7 | PTCH1 | Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.6 | PTCH1 | Arina Puzriakova Phenotypes for gene: PTCH1 were changed from 109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.5 | FBXW7 | Arina Puzriakova Classified gene: FBXW7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.5 | FBXW7 |
Arina Puzriakova Added comment: Comment on list classification: Rating Amber as at present I do not think there is enough evidence to classify this as a diagnostic-grade cancer gene. There are previous reports of dn/inh germline variants in individuals (likely 7) with tumor predisposition, two had structural alternations that affected other genomic regions and the others were identified from a targeted Wilms cohort. FBXW7 heterozygous variants have also been associated with a neurodevelopmental disorder (OMIM:620012; G2P - moderate) but these individuals not shown malignancy. FBXW7 is not linked to a cancer phenotype in OMIM or G2P. Nonetheless this is a tumour suppressor gene that is worth monitoring for new evidence linking to cancer susceptibility (added watchlist tag). |
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Childhood solid tumours v4.5 | FBXW7 | Arina Puzriakova Gene: fbxw7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.4 | FBXW7 | Arina Puzriakova Phenotypes for gene: FBXW7 were changed from Developmental delay, hypotonia, and impaired language to Wilms tumor, MONDO:0006058; Rhabdoid tumor, MONDO:0002728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.3 | FBXW7 | Arina Puzriakova Publications for gene: FBXW7 were set to 30885698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.2 | FBXW7 | Arina Puzriakova Tag watchlist tag was added to gene: FBXW7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.2 | FBXW7 | Arina Puzriakova reviewed gene: FBXW7: Rating: ; Mode of pathogenicity: None; Publications: 19963109, 20332316, 26482194, 30885698; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.2 | FBXW7 |
Dmitrijs Rots gene: FBXW7 was added gene: FBXW7 was added to Childhood solid tumours. Sources: Literature Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXW7 were set to 30885698 Phenotypes for gene: FBXW7 were set to Developmental delay, hypotonia, and impaired language Penetrance for gene: FBXW7 were set to Incomplete Review for gene: FBXW7 was set to GREEN Added comment: In 30885698 five cases with de novo and truncating variants and childhood tumors are reported. Gene is intolerant to truncating variants (pLI=1). Enough evidence for green rating. Sources: Literature |
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Childhood solid tumours v4.2 | KDM3B |
Dmitrijs Rots gene: KDM3B was added gene: KDM3B was added to Childhood solid tumours. Sources: Literature Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM3B were set to 30885698; 30929739 Phenotypes for gene: KDM3B were set to Diets-Jongmans syndrome Review for gene: KDM3B was set to GREEN Added comment: in 30885698 and 30929739 in total are reported 4 cases with cancer (2 Wilms tumor, 1 AML and 1 HL) AND de novo variants. enough evidence for green rating. Sources: Literature |
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Childhood solid tumours v4.2 | BLM | Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom Syndrome; 210900 to Bloom syndrome, OMIM:210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.1 | Catherine Snow Panel version 4.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v4.0 | Catherine Snow promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v3.5 |
Arina Puzriakova Panel name changed from Tumour predisposition - childhood onset to Childhood solid tumours List of related panels changed from Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome; R359 to Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome; Tumour predisposition - childhood onset; R359 |
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Childhood solid tumours v3.4 | MAX |
Arina Puzriakova Tag Q3_22_rating was removed from gene: MAX. Tag Q3_22_expert_review was removed from gene: MAX. |
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Childhood solid tumours v3.4 | CDKN1C | Arina Puzriakova Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann Syndrome; Wilms Tumor; Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732; Silver-Russell Syndrome; Beckwith-Wiedemann syndrome to Beckwith-Wiedemann syndrome, OMIM:130650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v3.3 | CDKN1C | Arina Puzriakova Tag Q2_22_MOI was removed from gene: CDKN1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v3.3 | MAX | Arina Puzriakova edited their review of gene: MAX: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v3.3 | CDKN1C | Arina Puzriakova commented on gene: CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v3.2 | MAX |
Arina Puzriakova Source Expert Review Green was added to MAX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v3.2 | CDKN1C | Arina Puzriakova Mode of inheritance for gene CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.38 | GPR161 | Eleanor Williams commented on gene: GPR161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.38 | GPR161 | Eleanor Williams Phenotypes for gene: GPR161 were changed from Medulloblastoma predisposition to {Medulloblastoma predisposition syndrome}, OMIM:155255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.37 | GPR161 | Eleanor Williams Tag gene-checked was removed from gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.37 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742; {Leukemia, acute myeloid}, OMIM:601626; {Melanoma, cutaneous malignant, 9}, OMIM:615134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.36 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from Medulloblastoma, desmoplastic, 155255; Basal cell nevus syndrome, 109400; SUFU associated Medulloblastoma to Basal cell nevus syndrome, OMIM:109400; {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.35 | MAX | Eleanor Williams commented on gene: MAX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.35 | MAX |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: MAX. Tag Q3_22_rating tag was added to gene: MAX. Tag Q3_22_expert_review tag was added to gene: MAX. |
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Childhood solid tumours v2.35 | SDHB | Arina Puzriakova Mode of inheritance for gene: SDHB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.34 | SDHB | Arina Puzriakova Phenotypes for gene: SDHB were changed from Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 2, 612359; Gastrointestinal stromal tumor, 606764 to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864; Gastrointestinal stromal tumor, OMIM:606764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.33 | TRIM28 | Eleanor Williams Tag gene-checked tag was added to gene: TRIM28. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.33 | GPR161 | Arina Puzriakova Tag gene-checked tag was added to gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.33 | CTR9 | Sarah Leigh Tag gene-checked tag was added to gene: CTR9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.33 | PARN | Arina Puzriakova Phenotypes for gene: PARN were changed from 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 to Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.32 | CDKN1C | Sarah Leigh Publications for gene: CDKN1C were set to 10424812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.31 | CDKN1C | Sarah Leigh Tag Q2_22_MOI tag was added to gene: CDKN1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.31 | CDKN1C | Sarah Leigh reviewed gene: CDKN1C: Rating: ; Mode of pathogenicity: None; Publications: 7550351, 7729684, 8610162).; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.31 | ELP1 | Arina Puzriakova Phenotypes for gene: ELP1 were changed from Medulloblastoma predisposition to Medulloblastoma, OMIM:155255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.30 | BRIP1 | Arina Puzriakova Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054; Fanconi anemia, complementation group J, 609054; Fanconi Anaemia; ?Breast cancer, early-onset, 114480; Fanconi Anemia to Fanconi anemia, complementation group J, OMIM:609054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.29 | BRCA2 | Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Wilms tumor, 194070; Fanconi Anaemia; {Breast cancer, male, susceptibility to}, 114480; Prostate cancer, 176807; {Medulloblastoma}, 155255; {Glioblastoma 3}, 613029; Fanconi Anemia; Hereditary Breast and Ovarian Cancer; Fanconi anemia, complementation group D1, 605724; {Breast-ovarian cancer, familial, 2}, 612555; Pancreatic cancer, 613347 to Fanconi anemia, complementation group D1, OMIM:605724; Wilms tumor, OMIM:194070; {Glioblastoma 3}, OMIM:613029; {Medulloblastoma}, OMIM:155255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.28 | BRCA1 | Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Hereditary Breast and Ovarian Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.27 | ISCA-37401-Loss | Ivone Leong commented on Region: ISCA-37401-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.26 | ISCA-37401-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.25 | GPR161 | Arina Puzriakova Tag for-review was removed from gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.25 | ELP1 | Arina Puzriakova Tag for-review was removed from gene: ELP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.25 | GPR161 | Arina Puzriakova commented on gene: GPR161: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.25 | ELP1 | Arina Puzriakova commented on gene: ELP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.24 | GPR161 |
Arina Puzriakova Source Expert Review Green was added to GPR161. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood solid tumours v2.24 | ELP1 |
Arina Puzriakova Source Expert Review Green was added to ELP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood solid tumours v2.23 | NYNRIN | Arina Puzriakova Classified gene: NYNRIN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.23 | NYNRIN |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. The NYNRIN gene is currently not listed in OMIM or G2P. Mahamdallie et al. 2019 (PMID: 30885698) report 2 families with 3 affected children with Wilms tumour who harboured distinct compound het protein-truncating variants in this gene. To date, there have been no further reports linking NYNRIN with disease and little is known about its functions. Rating Amber as two families have been identified but additional cases/functional evidence are required to validate pathogenicity. |
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Childhood solid tumours v2.23 | NYNRIN | Arina Puzriakova Gene: nynrin has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.22 | NYNRIN |
Zornitza Stark gene: NYNRIN was added gene: NYNRIN was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NYNRIN were set to 30885698 Phenotypes for gene: NYNRIN were set to Wilms tumour Review for gene: NYNRIN was set to AMBER Added comment: 3 individuals with Wilms Tumour reported from two families and bi-allelic truncating variants. One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability. Sources: Literature |
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Childhood solid tumours v2.22 | ATM | Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia Telangiectasia; 208900 to Ataxia-telangiectasia, OMIM:208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.21 | ACD | Arina Puzriakova Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita 6 and 7 to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.20 | MAX | Arina Puzriakova Classified gene: MAX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.20 | MAX | Arina Puzriakova Added comment: Comment on list classification: Overall there is some evidence to suggest pertinence of this panel to some MAX variant carriers; however, inclusion could risk potential incidental findings in others. Therefore, this gene will be flagged for review by the GMS specialist working group to establish consensus on whether MAX should be included on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.20 | MAX | Arina Puzriakova Gene: max has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.19 | MAX |
Arina Puzriakova gene: MAX was added gene: MAX was added to Tumour predisposition - childhood onset. Sources: NHS GMS Q2_21_expert_review tags were added to gene: MAX. Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to 33367756; 32508744; 22452945 Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to}, OMIM:171300 Review for gene: MAX was set to AMBER Added comment: This gene was flagged internally by a GLH following identification of a pathogenic germline variant in a patient with paediatric neuroblastoma. The variant was initially classified as tier 3 as the gene was not included on any panels applied for variant prioritisation - but was on a different cancer susceptibility panel (Adult solid tumours cancer susceptibility v2.2). ----- There is a well-established link between MAX variants and pheochromocytoma (PCC; MIM# 171300). Typically, age of diagnosis is in adulthood. Literature search for MAX-related paediatric onset cases did reveal a large family with multiple individuals with PCCs including one female (III.5) diagnosed with PCC at 14 years (Seabrook et al. 2021, PMID: 33367756). The same family also had 2 children without PCC at time of reporting but with different malignancies - paravertebral ganglioneuroma (III.8, aged 5 years) and abdominal neuroblastoma (III.9, aged 6 months), respectively. Pozza et al. 2020 (PMID: 32508744) also reported on an unrelated female who was diagnosed with pelvic ganglioneuroblastoma with lumbar–aortic lymph node metastases at 11 months and later with right composite adrenal PCC-ganglioneuroma at 15 years. Another study (PMID: 22452945) investigating contribution of MAX variants to PCC stated the age of diagnosis ranged between 13-58 years in a cohort of 23 probands. Sources: NHS GMS |
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Childhood solid tumours v2.18 | POLH | Arina Puzriakova Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.17 | SMARCA4 | Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from 613325; predisposition to small cell ca; Ovary with hypercalcemia to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.16 | DICER1 | Arina Puzriakova Publications for gene: DICER1 were set to 21205968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.15 | DICER1 | Arina Puzriakova Phenotypes for gene: DICER1 were changed from Familial Multinodular Goiter; DICER1 syndrome; 601200 to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800; Pleuropulmonary blastoma, OMIM:601200; Pleuropulmonary blastoma, MONDO:0011014; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; Embryonal rhabdomyosarcoma (disease), MONDO:0009993; DICER1 syndrome; GLOW syndrome; Global developmental delay, lung cysts, overgrowth, and wilms tumor, MONDO:0032647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.14 | NOP10 | Arina Puzriakova Phenotypes for gene: NOP10 were changed from Dyskeratosis Congenita to Dyskeratosis congenita, autosomal recessive 1, 224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.13 | NOP10 | Arina Puzriakova changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Homozygous NOP10 variant (c.100C>T, p.Arg34Trp) only reported once in 3 affected members of a consanguineous Saudi family (PMID: 17507419). Additional cases required before inclusion on a diagnostic panel.; to: Comment on list classification: Associated with relevant phenotype in OMIM and a possible Gen2Phen gene. Homozygous NOP10 variant (c.100C>T, p.Arg34Trp) only reported once in 3 affected members of a consanguineous Saudi family (PMID: 17507419). Additional cases required before inclusion on a diagnostic panel, therefore left Amber until further evidence to support Green rating by external expert | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.13 | NOP10 | Arina Puzriakova changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Homozygous NOP10 variant (c.100C>T, p.Arg34Trp) only reported once in 3 affected members of a consanguineous Saudi family (PMID: 17507419). The variant caused telomere shortening in homozygous and heterozygous carriers.; to: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Homozygous NOP10 variant (c.100C>T, p.Arg34Trp) only reported once in 3 affected members of a consanguineous Saudi family (PMID: 17507419). Additional cases required before inclusion on a diagnostic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.13 | NOP10 | Arina Puzriakova Publications for gene: NOP10 were set to 22965356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.12 | NOP10 | Arina Puzriakova Classified gene: NOP10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.12 | NOP10 | Arina Puzriakova Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Homozygous NOP10 variant (c.100C>T, p.Arg34Trp) only reported once in 3 affected members of a consanguineous Saudi family (PMID: 17507419). The variant caused telomere shortening in homozygous and heterozygous carriers. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.12 | NOP10 | Arina Puzriakova Gene: nop10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.11 | ELP1 | Arina Puzriakova Classified gene: ELP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.11 | ELP1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to to rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.11 | ELP1 | Arina Puzriakova Gene: elp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.10 | ELP1 | Arina Puzriakova Tag for-review tag was added to gene: ELP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.10 | ELP1 |
Arina Puzriakova gene: ELP1 was added gene: ELP1 was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELP1 were set to 32296180 Phenotypes for gene: ELP1 were set to Medulloblastoma predisposition Review for gene: ELP1 was set to GREEN Added comment: PMID: 32296180 (2020) - Recurrent germline LOF variants of ELP1 detected in paediatric medulloblastoma (MB) cases; specifically the Sonic Hedgehog (SHH) subgroup, in which the variants were found in 14.4% (29/202) of patients. Inheritance of germline ELP1 LOF variants was confirmed by WES of three parent-offspring trios, two of which exhibited a family history of paediatric MB. Carriers of these variants tended to develop MB(SHH) as older children (median age at diagnosis: 6.3 years). ELP1-associated MB(SHH) tumours were significantly enriched for somatic alterations of PTCH1 (Sonic Hedgehog receptor), suggesting ELP1 LOF variants predispose to tumour development in combination with constitutive activation of SHH signalling. Sources: Literature |
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Childhood solid tumours v2.9 | GPR161 | Arina Puzriakova Classified gene: GPR161 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.9 | GPR161 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.9 | GPR161 | Arina Puzriakova Gene: gpr161 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.8 | GPR161 | Arina Puzriakova Tag for-review tag was added to gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.8 | GPR161 |
Arina Puzriakova gene: GPR161 was added gene: GPR161 was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GPR161 were set to 29386106; 31609649 Phenotypes for gene: GPR161 were set to Medulloblastoma predisposition Review for gene: GPR161 was set to GREEN Added comment: PMID: 31609649 (2020) - Heterozygous germline variants were identified in 6 unrelated patients with infant-onset sonic hedgehog medulloblastoma (median age, 1.5 years). No additional germline or somatic driver events were detected. 5/6 cases demonstrated biallelic inactivation of GPR151 as a result of a somatic copy-neutral loss of heterozygosity event on chromosome 1q. This event was absent among GPR161 wild-type medulloblastoma tumours. PMID: 29386106 (2018) - Loss of Gpr161 activity was consistent with medulloblastoma pathogenesis in a mouse model, where Gpr161 deletion increased downstream activity of the sonic hedgehog pathway. Earlier deletion of Gpr161 during embryogenesis increased tumour incidence and severity. Sources: Literature |
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Childhood solid tumours v2.6 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.5 | RET | Eleanor Williams Added comment: Comment on mode of pathogenicity: Updating the mode of pathogenicity in line with the Adult solid tumours cancer susceptibility panel https://panelapp.genomicsengland.co.uk/panels/245/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.5 | RET | Eleanor Williams Mode of pathogenicity for gene: RET 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.2 | Rebecca Foulger Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS Cancer Germline Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.37 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Cancer Germline Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.36 | CTR9 | Ivone Leong Phenotypes for gene: CTR9 were changed from Wilms tumour to Familial Wilms tumor | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.35 | CTR9 | Ivone Leong Mode of inheritance for gene: CTR9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.34 | TRIM28 | Ivone Leong Mode of inheritance for gene: TRIM28 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.33 | TRIM28 | Ivone Leong Phenotypes for gene: TRIM28 were changed from Wilms tumour to Familial Wilms tumor; Wilms tumour | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.32 | TRIM28 | Shazia Mahamdallie reviewed gene: TRIM28: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29912901, 30694527, 30885698; Phenotypes: Familial Wilms tumor, Wilms tumor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.32 | CTR9 | Shazia Mahamdallie reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25099282, 29292210; Phenotypes: Familial Wilms tumor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.32 | TRIM28 | Ivone Leong reviewed gene: TRIM28: Rating: GREEN; Mode of pathogenicity: ; Publications: 29912901, 30694527, 30885698 ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.32 | CTR9 | Ivone Leong reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: ; Publications: 25099282, 29292210; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.31 | TRIM28 |
Ivone Leong gene: TRIM28 was added gene: TRIM28 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,Expert list Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM28 were set to 29912901; 30694527; 30885698 Phenotypes for gene: TRIM28 were set to Wilms tumour |
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Childhood solid tumours v1.31 | CTR9 |
Ivone Leong gene: CTR9 was added gene: CTR9 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTR9 were set to 25099282; 29292210 Phenotypes for gene: CTR9 were set to Wilms tumour |
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Childhood solid tumours v1.30 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Cancer Germline Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.28 | Ivone Leong List of related panels changed from Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome to Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome; R359 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SOS2 | Ivone Leong reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | RIT1 | Ivone Leong reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PPP1CB | Ivone Leong reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | LZTR1 | Ivone Leong reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | WRAP53 | Ivone Leong reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | TERC | Ivone Leong reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BRCA1 | Ivone Leong reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SPRED1 | Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SPRED1 | Anna de Burca reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | POLH | Ivone Leong reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 24877075, 30511002, 11773631; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | RTEL1 | Ivone Leong reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24582487; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | DKC1 | Ivone Leong reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | ACD | Ivone Leong reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: 25233904, 25205116; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | XPC | Ivone Leong reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | XPA | Ivone Leong reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | TERT | Ivone Leong reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MAP2K2 | Ivone Leong reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MAP2K2 | Anna de Burca reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MAP2K1 | Ivone Leong reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MAP2K1 | Anna de Burca reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | ERCC5 | Ivone Leong reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9096355, 7951246, 23255472, 1206391, 10026181, 11841555, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | ERCC3 | Ivone Leong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | ERCC2 | Ivone Leong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 28376890; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | DDB2 | Ivone Leong reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 21107348, 104693112, 12812979; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BRAF | Ivone Leong reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BRAF | Anna de Burca reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | WT1 | Ivone Leong reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | WRN | Ivone Leong reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | VHL | Ivone Leong reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | TSC2 | Ivone Leong reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | TSC1 | Ivone Leong reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | TRIP13 | Ivone Leong reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | TRIM37 | Ivone Leong reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | TP53 | Ivone Leong reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SUFU | Ivone Leong commented on gene: SUFU: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | STK11 | Ivone Leong reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SOS1 | Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SOS1 | Anna de Burca reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SMARCB1 | Ivone Leong reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SMARCA4 | Ivone Leong reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SMAD4 | Ivone Leong reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SLX4 | Ivone Leong reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SHOC2 | Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | SHOC2 | Anna de Burca reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | RET | Ivone Leong reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | REST | Ivone Leong reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | RECQL4 | Ivone Leong reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | RB1 | Ivone Leong reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | RAF1 | Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | RAF1 | Anna de Burca reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PTPN11 | Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PTPN11 | Anna de Burca reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PTEN | Ivone Leong reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PTCH1 | Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PRKAR1A | Ivone Leong reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PMS2 | Ivone Leong reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PHOX2B | Ivone Leong reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PDGFRB | Ivone Leong reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PDGFRA | Ivone Leong commented on gene: PDGFRA: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | PALB2 | Ivone Leong reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | NSD1 | Ivone Leong reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | NRAS | Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | NRAS | Anna de Burca reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | NF2 | Ivone Leong reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | NF1 | Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | NF1 | Anna de Burca reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | NBN | Ivone Leong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MSH6 | Ivone Leong reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MSH2 | Ivone Leong reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MLH1 | Ivone Leong reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | MEN1 | Ivone Leong reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | KRAS | Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | KRAS | Anna de Burca reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | HRAS | Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | HRAS | Anna de Burca reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | GPC3 | Ivone Leong reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCL | Ivone Leong reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCI | Ivone Leong reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCG | Ivone Leong reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCF | Ivone Leong reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCE | Ivone Leong reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCD2 | Ivone Leong reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCC | Ivone Leong reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCB | Ivone Leong reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | FANCA | Ivone Leong reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | EZH2 | Ivone Leong reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | ERCC4 | Ivone Leong reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | DIS3L2 | Ivone Leong reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | DICER1 | Ivone Leong reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | CDKN1C | Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | CDC73 | Ivone Leong reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | CBL | Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | CBL | Anna de Burca reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BUB1B | Ivone Leong reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BRIP1 | Ivone Leong reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BRCA2 | Ivone Leong reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BMPR1A | Ivone Leong commented on gene: BMPR1A: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | BLM | Ivone Leong reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | ATM | Ivone Leong reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | APC | Ivone Leong reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.27 | ALK | Ivone Leong reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.26 | WRAP53 |
Ivone Leong gene: WRAP53 was added gene: WRAP53 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 22285015 Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 |
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Childhood solid tumours v1.26 | TINF2 |
Ivone Leong gene: TINF2 was added gene: TINF2 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, 613990 |
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Childhood solid tumours v1.26 | TERC |
Ivone Leong gene: TERC was added gene: TERC was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 22285015 Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, 127550 |
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Childhood solid tumours v1.26 | BRCA1 |
Ivone Leong Source Expert Review Green was added to BRCA1. Source NHS GMS was added to BRCA1. Mode of inheritance for gene BRCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hereditary Breast and Ovarian Cancer for gene: BRCA1 Publications for gene BRCA1 were changed from to 23788249 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | SPRED1 |
Ivone Leong gene: SPRED1 was added gene: SPRED1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRED1 were set to 23875798 Phenotypes for gene: SPRED1 were set to Legius syndrome 611431 |
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Childhood solid tumours v1.26 | NOP10 |
Ivone Leong Source NHS GMS was added to NOP10. Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyskeratosis Congenita for gene: NOP10 Publications for gene NOP10 were changed from to 22965356 |
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Childhood solid tumours v1.26 | NHP2 |
Ivone Leong Source NHS GMS was added to NHP2. Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyskeratosis Congenita for gene: NHP2 Publications for gene NHP2 were changed from to 22965356 |
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Childhood solid tumours v1.26 | POLH |
Ivone Leong gene: POLH was added gene: POLH was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 24877075; 11773631; 26884178; 30511002 Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750 |
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Childhood solid tumours v1.26 | RTEL1 |
Ivone Leong gene: RTEL1 was added gene: RTEL1 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23453664; 23329068; 23959892; 24582487 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
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Childhood solid tumours v1.26 | PARN |
Ivone Leong gene: PARN was added gene: PARN was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PARN were set to 25893599; 26342108; 25848748 Phenotypes for gene: PARN were set to 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
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Childhood solid tumours v1.26 | DKC1 |
Ivone Leong gene: DKC1 was added gene: DKC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 12522253; 11379875; 20587522; 31027506; 18005359; 9888995; 10364516 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353 |
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Childhood solid tumours v1.26 | CTC1 |
Ivone Leong gene: CTC1 was added gene: CTC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22387016; 22899577; 22267198; 22532422 Phenotypes for gene: CTC1 were set to Dyskeratosis congenita; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Recessive; 612199 Coats plus syndrome |
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Childhood solid tumours v1.26 | ACD |
Ivone Leong gene: ACD was added gene: ACD was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904; 25205116 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita 6 and 7 |
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Childhood solid tumours v1.26 | SOS2 |
Ivone Leong gene: SOS2 was added gene: SOS2 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559 |
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Childhood solid tumours v1.26 | RIT1 |
Ivone Leong gene: RIT1 was added gene: RIT1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355 |
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Childhood solid tumours v1.26 | PPP1CB |
Ivone Leong gene: PPP1CB was added gene: PPP1CB was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 |
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Childhood solid tumours v1.26 | LZTR1 |
Ivone Leong gene: LZTR1 was added gene: LZTR1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670 |
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Childhood solid tumours v1.26 | XPC |
Ivone Leong Source Expert Review Green was added to XPC. Source NHS GMS was added to XPC. Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group C, 278720 for gene: XPC Publications for gene XPC were changed from to 21097776; 22044607; 26975629; 30565713 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | XPA |
Ivone Leong Source Expert Review Green was added to XPA. Source NHS GMS was added to XPA. Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA Publications for gene XPA were changed from to 21097776; 26975629; 30565713; 26884178 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | TERT |
Ivone Leong Source Expert Review Green was added to TERT. Source NHS GMS was added to TERT. Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 for gene: TERT Publications for gene TERT were changed from to 22965356; 22285015 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | RAD51C |
Ivone Leong Source NHS GMS was added to RAD51C. Added phenotypes Fanconi Anemia for gene: RAD51C Publications for gene RAD51C were changed from to 19686080 |
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Childhood solid tumours v1.26 | MAP2K2 |
Ivone Leong Source NHS GMS was added to MAP2K2. Source Expert Review Amber was added to MAP2K2. Mode of inheritance for gene MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous syndrome 4 615280 for gene: MAP2K2 Publications for gene MAP2K2 were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Childhood solid tumours v1.26 | MAP2K1 |
Ivone Leong Source NHS GMS was added to MAP2K1. Source Expert Review Amber was added to MAP2K1. Mode of inheritance for gene MAP2K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome for gene: MAP2K1 Publications for gene MAP2K1 were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Childhood solid tumours v1.26 | ERCC5 |
Ivone Leong Source Expert Review Green was added to ERCC5. Source NHS GMS was added to ERCC5. Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group G, 278780 for gene: ERCC5 Publications for gene ERCC5 were changed from to 26884178; 10026181; 7951246; 11841555; 9096355; 23255472; 1206391 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | ERCC3 |
Ivone Leong Source Expert Review Green was added to ERCC3. Source NHS GMS was added to ERCC3. Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group B, 610651 for gene: ERCC3 Publications for gene ERCC3 were changed from to 26884178; 16947863 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | ERCC2 |
Ivone Leong Source Expert Review Green was added to ERCC2. Source NHS GMS was added to ERCC2. Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group D, 278730 for gene: ERCC2 Publications for gene ERCC2 were changed from to 26884178; 28376890 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | ERCC1 |
Ivone Leong Source NHS GMS was added to ERCC1. Source Expert Review Amber was added to ERCC1. Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 for gene: ERCC1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Childhood solid tumours v1.26 | DDB2 |
Ivone Leong Source Expert Review Green was added to DDB2. Source NHS GMS was added to DDB2. Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 for gene: DDB2 Publications for gene DDB2 were changed from to 12812979; 21107348; 26884178; 104693112 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | BRAF |
Ivone Leong Source NHS GMS was added to BRAF. Source Expert Review Amber was added to BRAF. Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707 for gene: BRAF Publications for gene BRAF were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Childhood solid tumours v1.26 | WT1 |
Ivone Leong Source NHS GMS was added to WT1. Mode of inheritance for gene WT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Wilms tumor for gene: WT1 Publications for gene WT1 were changed from 15483024 to 23788249 |
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Childhood solid tumours v1.26 | WRN |
Ivone Leong Source NHS GMS was added to WRN. Added phenotypes Werner Syndrome for gene: WRN Publications for gene WRN were changed from to 10440702 |
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Childhood solid tumours v1.26 | VHL |
Ivone Leong Source NHS GMS was added to VHL. Mode of inheritance for gene VHL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Paraganglioma and Pheochromocytoma for gene: VHL Publications for gene VHL were changed from to 23788249 |
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Childhood solid tumours v1.26 | TSC2 |
Ivone Leong Source NHS GMS was added to TSC2. Mode of inheritance for gene TSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Tuberous sclerosis type 2 for gene: TSC2 Publications for gene TSC2 were changed from 24053982 to 23788249 |
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Childhood solid tumours v1.26 | TSC1 |
Ivone Leong Source NHS GMS was added to TSC1. Mode of inheritance for gene TSC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Tuberous sclerosis type 1 for gene: TSC1 Publications for gene TSC1 were changed from 24053982 to 23788249 |
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Childhood solid tumours v1.26 | TRIP13 |
Ivone Leong Source NHS GMS was added to TRIP13. Added phenotypes Mosaic variegated aneuploidy syndrome 3 617598 for gene: TRIP13 |
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Childhood solid tumours v1.26 | TRIM37 |
Ivone Leong Source NHS GMS was added to TRIM37. Added phenotypes Mulibrey nanism 253250 for gene: TRIM37 |
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Childhood solid tumours v1.26 | TP53 |
Ivone Leong Source NHS GMS was added to TP53. Mode of inheritance for gene TP53 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Li Fraumeni Syndrome for gene: TP53 Publications for gene TP53 were changed from to 23788249 |
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Childhood solid tumours v1.26 | SUFU |
Ivone Leong Source NHS GMS was added to SUFU. Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes SUFU associated Medulloblastoma for gene: SUFU Publications for gene SUFU were changed from 19533801; 29186568; 22829011; 25403219 to 19533801 |
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Childhood solid tumours v1.26 | STK11 |
Ivone Leong Source NHS GMS was added to STK11. Mode of inheritance for gene STK11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Peutz Jeghers syndrome for gene: STK11 Publications for gene STK11 were changed from to 23788249 |
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Childhood solid tumours v1.26 | SOS1 |
Ivone Leong Source Expert Review Green was added to SOS1. Source NHS GMS was added to SOS1. Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome 4 610733 for gene: SOS1 Publications for gene SOS1 were changed from to 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | SMARCB1 |
Ivone Leong Source NHS GMS was added to SMARCB1. Mode of inheritance for gene SMARCB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Atypical rhabdoid tumor predisposition for gene: SMARCB1 Publications for gene SMARCB1 were changed from 10521299 to 12016529 |
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Childhood solid tumours v1.26 | SMARCA4 |
Ivone Leong Source NHS GMS was added to SMARCA4. Mode of inheritance for gene SMARCA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes predisposition to small cell ca; Ovary with hypercalcemia for gene: SMARCA4 Publications for gene SMARCA4 were changed from 20137775 to 24658002 |
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Childhood solid tumours v1.26 | SMAD4 |
Ivone Leong Source NHS GMS was added to SMAD4. Mode of inheritance for gene SMAD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Juvenile Polyposis; Hereditary Hemorrhagic Telangiectasia for gene: SMAD4 Publications for gene SMAD4 were changed from to 15754356 |
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Childhood solid tumours v1.26 | SLX4 |
Ivone Leong Source NHS GMS was added to SLX4. Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4 |
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Childhood solid tumours v1.26 | SHOC2 |
Ivone Leong Source Expert Review Green was added to SHOC2. Source NHS GMS was added to SHOC2. Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2 Publications for gene SHOC2 were changed from to 19684605; 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | RET |
Ivone Leong Source NHS GMS was added to RET. Mode of inheritance for gene RET was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Multiple Endocrine Neoplasia for gene: RET Publications for gene RET were changed from 17963006 to 23788249 |
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Childhood solid tumours v1.26 | REST |
Ivone Leong Source NHS GMS was added to REST. Added phenotypes {Wilms tumor 6, susceptibility to} 616806 for gene: REST |
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Childhood solid tumours v1.26 | RECQL4 |
Ivone Leong Source NHS GMS was added to RECQL4. Added phenotypes Rothmund Thomson Syndrome for gene: RECQL4 Publications for gene RECQL4 were changed from 11471165 to 20503338 |
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Childhood solid tumours v1.26 | RB1 |
Ivone Leong Source NHS GMS was added to RB1. Mode of inheritance for gene RB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Retinoblastoma for gene: RB1 Publications for gene RB1 were changed from to 23788249 |
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Childhood solid tumours v1.26 | RAF1 |
Ivone Leong Source Expert Review Green was added to RAF1. Source NHS GMS was added to RAF1. Mode of inheritance for gene RAF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes LEOPARD syndrome 2 611554; Noonan syndrome 5 611553 for gene: RAF1 Publications for gene RAF1 were changed from to 17603482; 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | PTPN11 |
Ivone Leong Source NHS GMS was added to PTPN11. Mode of inheritance for gene PTPN11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome for gene: PTPN11 Publications for gene PTPN11 were changed from 25683281 to 23926459; 23875798 |
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Childhood solid tumours v1.26 | PTEN |
Ivone Leong Source NHS GMS was added to PTEN. Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cowden syndrome for gene: PTEN Publications for gene PTEN were changed from to 4635800 |
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Childhood solid tumours v1.26 | PTCH1 |
Ivone Leong Source NHS GMS was added to PTCH1. Mode of inheritance for gene PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gorlin syndrome for gene: PTCH1 Publications for gene PTCH1 were changed from 8326488 to 13851319 |
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Childhood solid tumours v1.26 | PRKAR1A |
Ivone Leong Source Expert Review Green was added to PRKAR1A. Source NHS GMS was added to PRKAR1A. Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Primary Pigmented Nodular Adrenocortical disease; Carney Complex for gene: PRKAR1A Publications for gene PRKAR1A were changed from to 11115848 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | PMS2 |
Ivone Leong Source NHS GMS was added to PMS2. Added phenotypes CMMRD; Lynch Syndrome for gene: PMS2 Publications for gene PMS2 were changed from 17613548 to 23788249 |
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Childhood solid tumours v1.26 | PHOX2B |
Ivone Leong Source NHS GMS was added to PHOX2B. Mode of inheritance for gene PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Clustering of Neuroblastoma for gene: PHOX2B Publications for gene PHOX2B were changed from to 22071890 |
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Childhood solid tumours v1.26 | PDGFRB |
Ivone Leong Source NHS GMS was added to PDGFRB. Mode of inheritance for gene PDGFRB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Infantile myofibromatosis; Myofibromatosis, infantile, 1 228550 for gene: PDGFRB Publications for gene PDGFRB were changed from 23731537; 23731542 to 23731542; 23731537 |
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Childhood solid tumours v1.26 | PDGFRA |
Ivone Leong Source NHS GMS was added to PDGFRA. Mode of inheritance for gene PDGFRA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gastrointestinal stromal tumor, somatic 606764; Familial GIST for gene: PDGFRA |
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Childhood solid tumours v1.26 | PALB2 |
Ivone Leong Source NHS GMS was added to PALB2. Added phenotypes Fanconi Anemia for gene: PALB2 Publications for gene PALB2 were changed from to 17200671 |
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Childhood solid tumours v1.26 | NSD1 |
Ivone Leong Source NHS GMS was added to NSD1. Added phenotypes Sotos syndrome 1, 117550 for gene: NSD1 |
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Childhood solid tumours v1.26 | NRAS |
Ivone Leong Source NHS GMS was added to NRAS. Mode of inheritance for gene NRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224; CFC Syndrome for gene: NRAS Publications for gene NRAS were changed from to 23875798 |
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Childhood solid tumours v1.26 | NF2 |
Ivone Leong Source NHS GMS was added to NF2. Mode of inheritance for gene NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acoustic neuroma for gene: NF2 Publications for gene NF2 were changed from to 23788249 |
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Childhood solid tumours v1.26 | NF1 |
Ivone Leong Source NHS GMS was added to NF1. Mode of inheritance for gene NF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1 Publications for gene NF1 were changed from to 18772890; 23875798 |
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Childhood solid tumours v1.26 | NBN |
Ivone Leong Source NHS GMS was added to NBN. Added phenotypes Nijmegen Breakage Syndrome for gene: NBN Publications for gene NBN were changed from 22373003 to 12833396 |
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Childhood solid tumours v1.26 | MSH6 |
Ivone Leong Source NHS GMS was added to MSH6. Added phenotypes CMMRD; Lynch Syndrome for gene: MSH6 Publications for gene MSH6 were changed from 17613548 to 23788249 |
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Childhood solid tumours v1.26 | MSH2 |
Ivone Leong Source NHS GMS was added to MSH2. Added phenotypes CMMRD; Lynch Syndrome for gene: MSH2 Publications for gene MSH2 were changed from 17613548 to 23788249 |
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Childhood solid tumours v1.26 | MLH1 |
Ivone Leong Source NHS GMS was added to MLH1. Added phenotypes CMMRD; Lynch Syndrome for gene: MLH1 Publications for gene MLH1 were changed from 17613548 to 23788249 |
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Childhood solid tumours v1.26 | MEN1 |
Ivone Leong Source NHS GMS was added to MEN1. Mode of inheritance for gene MEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Multiple Endocrine Neoplasia for gene: MEN1 Publications for gene MEN1 were changed from to 23788249 |
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Childhood solid tumours v1.26 | KRAS |
Ivone Leong Source Expert Review Green was added to KRAS. Source NHS GMS was added to KRAS. Mode of inheritance for gene KRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278 for gene: KRAS Publications for gene KRAS were changed from to 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.26 | HRAS |
Ivone Leong Source NHS GMS was added to HRAS. Mode of inheritance for gene HRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Costello syndrome for gene: HRAS Publications for gene HRAS were changed from to 23875798 |
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Childhood solid tumours v1.26 | GPC3 |
Ivone Leong Source NHS GMS was added to GPC3. Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870; Wilms tumor, somatic, 194070 for gene: GPC3 |
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Childhood solid tumours v1.26 | FANCL |
Ivone Leong Source NHS GMS was added to FANCL. Added phenotypes Fanconi Anemia for gene: FANCL Publications for gene FANCL were changed from to 19686080 |
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Childhood solid tumours v1.26 | FANCI |
Ivone Leong Source NHS GMS was added to FANCI. Added phenotypes Fanconi Anemia for gene: FANCI Publications for gene FANCI were changed from to 19686080 |
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Childhood solid tumours v1.26 | FANCG |
Ivone Leong Source NHS GMS was added to FANCG. Added phenotypes Fanconi Anemia for gene: FANCG Publications for gene FANCG were changed from to 19686080 |
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Childhood solid tumours v1.26 | FANCF |
Ivone Leong Source NHS GMS was added to FANCF. Added phenotypes Fanconi Anemia for gene: FANCF Publications for gene FANCF were changed from to 19686080 |
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Childhood solid tumours v1.26 | FANCE |
Ivone Leong Source NHS GMS was added to FANCE. Added phenotypes Fanconi Anemia for gene: FANCE Publications for gene FANCE were changed from to 19686080 |
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Childhood solid tumours v1.26 | FANCD2 |
Ivone Leong Source NHS GMS was added to FANCD2. Added phenotypes Fanconi Anemia for gene: FANCD2 Publications for gene FANCD2 were changed from to 19686080 |
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Childhood solid tumours v1.26 | FANCC |
Ivone Leong Source NHS GMS was added to FANCC. Added phenotypes Fanconi Anemia for gene: FANCC Publications for gene FANCC were changed from to 19686080 |
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Childhood solid tumours v1.26 | FANCB |
Ivone Leong Source NHS GMS was added to FANCB. Added phenotypes Fanconi anemia, complementation group B, 300514 for gene: FANCB |
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Childhood solid tumours v1.26 | FANCA |
Ivone Leong Source NHS GMS was added to FANCA. Added phenotypes Fanconi Anemia for gene: FANCA Publications for gene FANCA were changed from to 19686080 |
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Childhood solid tumours v1.26 | EZH2 |
Ivone Leong Source NHS GMS was added to EZH2. Added phenotypes Weaver syndrome, 277590 for gene: EZH2 |
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Childhood solid tumours v1.26 | ERCC4 |
Ivone Leong Source NHS GMS was added to ERCC4. Added phenotypes Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, group F, 278760 for gene: ERCC4 Publications for gene ERCC4 were changed from to 22044607 |
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Childhood solid tumours v1.26 | DIS3L2 |
Ivone Leong Source NHS GMS was added to DIS3L2. Added phenotypes Perlman syndrome, 267000 for gene: DIS3L2 |
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Childhood solid tumours v1.26 | DICER1 |
Ivone Leong Source NHS GMS was added to DICER1. Mode of inheritance for gene DICER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes DICER1 syndrome; Familial Multinodular Goiter for gene: DICER1 Publications for gene DICER1 were changed from 19556464 to 21205968 |
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Childhood solid tumours v1.26 | CDKN1C |
Ivone Leong Source NHS GMS was added to CDKN1C. Mode of inheritance for gene CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C Publications for gene CDKN1C were changed from to 10424812 |
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Childhood solid tumours v1.26 | CDC73 |
Ivone Leong Source NHS GMS was added to CDC73. Added phenotypes 145001 for gene: CDC73 |
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Childhood solid tumours v1.26 | CBL |
Ivone Leong Source NHS GMS was added to CBL. Mode of inheritance for gene CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 for gene: CBL Publications for gene CBL were changed from 20619386 to 23875798 |
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Childhood solid tumours v1.26 | BUB1B |
Ivone Leong Source NHS GMS was added to BUB1B. Added phenotypes Mosaic variegated aneuploidy syndrome 1 257300 for gene: BUB1B |
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Childhood solid tumours v1.26 | BRIP1 |
Ivone Leong Source NHS GMS was added to BRIP1. Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1 Publications for gene BRIP1 were changed from to 21964575 |
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Childhood solid tumours v1.26 | BRCA2 |
Ivone Leong Source NHS GMS was added to BRCA2. Added phenotypes Hereditary Breast and Ovarian Cancer for gene: BRCA2 Publications for gene BRCA2 were changed from to 23788249 |
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Childhood solid tumours v1.26 | BMPR1A |
Ivone Leong Source NHS GMS was added to BMPR1A. Mode of inheritance for gene BMPR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditary Mixed Polyposis Syndrome for gene: BMPR1A Publications for gene BMPR1A were changed from 23539595; 12136244; 11536076; 11381269 to 23539595 |
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Childhood solid tumours v1.26 | BLM |
Ivone Leong Source NHS GMS was added to BLM. Added phenotypes Bloom Syndrome for gene: BLM Publications for gene BLM were changed from 7585968 to 11257107 |
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Childhood solid tumours v1.26 | ATM |
Ivone Leong Source NHS GMS was added to ATM. Added phenotypes Ataxia Telangiectasia for gene: ATM Publications for gene ATM were changed from 9463314 to 9288106 |
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Childhood solid tumours v1.26 | APC |
Ivone Leong Source NHS GMS was added to APC. Mode of inheritance for gene APC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Adenomatous Polyposis for gene: APC Publications for gene APC were changed from 1658283 to 23788249 |
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Childhood solid tumours v1.26 | ALK |
Ivone Leong Source NHS GMS was added to ALK. Mode of inheritance for gene ALK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial neuroblastoma for gene: ALK Publications for gene ALK were changed from to 18724359 |
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Childhood solid tumours v1.25 | WRN |
Ivone Leong Source Expert list was added to WRN. Source Expert Review Green was added to WRN. Mode of inheritance for gene WRN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Werner syndrome, 277700 for gene: WRN Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.25 | VHL |
Ivone Leong Source Expert list was added to VHL. Source Expert Review Green was added to VHL. Mode of inheritance for gene VHL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes von Hippel-Lindau syndrome, 193300 for gene: VHL Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.25 | SUFU |
Ivone Leong Source Expert list was added to SUFU. Source Expert Review Green was added to SUFU. Mode of inheritance for gene SUFU was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Medulloblastoma, desmoplastic, 155255; Basal cell nevus syndrome, 109400 for gene: SUFU Publications for gene SUFU were changed from to 19533801; 29186568; 22829011; 25403219 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.25 | STK11 |
Ivone Leong Source Expert list was added to STK11. Source Expert Review Green was added to STK11. Mode of inheritance for gene STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Peutz-Jeghers syndrome, 175200 for gene: STK11 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.25 | SMAD4 |
Ivone Leong Source Expert list was added to SMAD4. Source Expert Review Green was added to SMAD4. Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Polyposis, juvenile intestinal, 174900 for gene: SMAD4 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.25 | PDGFRA |
Ivone Leong Source Expert list was added to PDGFRA. Source Expert Review Green was added to PDGFRA. Mode of inheritance for gene PDGFRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic, 606764 for gene: PDGFRA Publications for gene PDGFRA were changed from to 17566086; 14699510; 25975287; 17087943 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.25 | MEN1 |
Ivone Leong Source Expert list was added to MEN1. Source Expert Review Green was added to MEN1. Mode of inheritance for gene MEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Multiple endocrine neoplasia 1, 131100 for gene: MEN1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.25 | BMPR1A |
Ivone Leong Source Expert list was added to BMPR1A. Source Expert Review Green was added to BMPR1A. Mode of inheritance for gene BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hereditary Mixed Polyposis Syndrome 2, 610069; Polyposis, juvenile intestinal, 174900 for gene: BMPR1A Publications for gene BMPR1A were changed from to 23539595; 12136244; 11536076; 11381269 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Childhood solid tumours v1.24 | SUFU | Ivone Leong reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19533801, 22829011, 25403219, 29186568; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.24 | PDGFRA | Ivone Leong reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17087943, 14699510, 25975287, 17566086; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.24 | BMPR1A | Ivone Leong reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381269, 12136244, 11536076; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | XPC | Lara Hawkes reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | XPA | Lara Hawkes reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | WT1 | Lara Hawkes reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Wilms tumor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | WRN | Lara Hawkes reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | VHL | Lara Hawkes reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paraganglioma & Pheochromocytoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | TSC2 | Lara Hawkes reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tuberous sclerosis type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | TSC1 | Lara Hawkes reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tuberous sclerosis type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | TRIP13 | Lara Hawkes reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 3 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | TRIM37 | Lara Hawkes reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | TP53 | Lara Hawkes reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Li Fraumeni Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | TNFRSF11A | Lara Hawkes reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paget disease of bone, Polyostotic osteolytic dysplasia (hereditary expansile), Osteosarcoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | TERT | Lara Hawkes reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dynkeratosis Congenita; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | T | Lara Hawkes reviewed gene: T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Chordoma, Chordoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SUFU | Lara Hawkes reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SUFU associated Medulloblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | STK11 | Lara Hawkes reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peutz Jeghers syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SQSTM1 | Lara Hawkes reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paget disease of bone 3 167250, Osteosarcoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SOS1 | Lara Hawkes reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SMARCB1 | Lara Hawkes reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atypical rhabdoid tumor predisposition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SMARCA4 | Lara Hawkes reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: predisposition to small cell ca Ovary with hypercalcemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SMAD4 | Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SHOC2 | Lara Hawkes reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | SLX4 | Lara Hawkes reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group P, 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | REST | Lara Hawkes reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616806; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | RET | Lara Hawkes reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple Endocrine Neoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | RECQL4 | Lara Hawkes reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rothmund Thomson Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | RB1 | Lara Hawkes reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | RAF1 | Lara Hawkes reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | RAD51C | Lara Hawkes reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PTPN11 | Lara Hawkes reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PTEN | Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cowden syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PTCH1 | Lara Hawkes reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gorlin syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PRKAR1A | Lara Hawkes reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Carney Complex, Familial Primary Pigmented Nodular Adrenocortical disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PMS2 | Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PHOX2B | Lara Hawkes reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Clustering of Neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PDGFRA | Lara Hawkes reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial GIST, Gastrointestinal stromal tumor, somatic 606764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | PALB2 | Lara Hawkes reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NSD1 | Lara Hawkes reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sotos syndrome 1, 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NRAS | Lara Hawkes reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NOP10 | Lara Hawkes reviewed gene: NOP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NHP2 | Lara Hawkes reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NF2 | Lara Hawkes reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acoustic neuroma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NF1 | Lara Hawkes reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NBN | Lara Hawkes reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen Breakage Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | MTAP | Lara Hawkes reviewed gene: MTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UPS of bone, Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | MSH6 | Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | MSH2 | Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | MLH1 | Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | MEN1 | Lara Hawkes reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple Endocrine Neoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | MAP2K2 | Lara Hawkes reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | MAP2K1 | Lara Hawkes reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | KRAS | Lara Hawkes reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | HRAS | Lara Hawkes reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | GPC3 | Lara Hawkes reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, 312870, Wilms tumor, somatic, 194070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCL | Lara Hawkes reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCI | Lara Hawkes reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCG | Lara Hawkes reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCF | Lara Hawkes reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCE | Lara Hawkes reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCD2 | Lara Hawkes reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCC | Lara Hawkes reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCB | Lara Hawkes reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group B, 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | FANCA | Lara Hawkes reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | EZH2 | Lara Hawkes reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Weaver syndrome, 277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | ERCC5 | Lara Hawkes reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | ERCC4 | Lara Hawkes reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | ERCC3 | Lara Hawkes reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | ERCC2 | Lara Hawkes reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | ERCC1 | Lara Hawkes reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | DIS3L2 | Lara Hawkes reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perlman syndrome, 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | DICER1 | Lara Hawkes reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DICER1 syndrome, Familial Multinodular Goiter; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | DDB2 | Lara Hawkes reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | CDKN1C | Lara Hawkes reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | CBL | Lara Hawkes reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome, CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalie; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | BUB1B | Lara Hawkes reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | BRIP1 | Lara Hawkes reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | BRCA2 | Lara Hawkes reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Breast and Ovarian Cancer; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | BRCA1 | Lara Hawkes reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Breast and Ovarian Cancer; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | BRAF | Lara Hawkes reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | BMPR1A | Lara Hawkes reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Mixed Polyposis Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | BLM | Lara Hawkes reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | ATM | Lara Hawkes reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia Telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | APC | Lara Hawkes reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Adenomatous Polyposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | ALK | Lara Hawkes reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | T | Ivone Leong commented on gene: T: New gene name is TBXT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | T | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | T | Ivone Leong Marked gene: T as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | T | Ivone Leong Added comment: Comment when marking as ready: New gene name is TBXT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | T | Ivone Leong Gene: t has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | T | Ivone Leong Tag new-gene-name tag was added to gene: T. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | XPC |
Ivone Leong gene: XPC was added gene: XPC was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: XPC was set to |
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Childhood solid tumours v1.22 | XPA |
Ivone Leong gene: XPA was added gene: XPA was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: XPA was set to |
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Childhood solid tumours v1.22 | WT1 |
Ivone Leong Source Expert List was added to WT1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | WRN |
Ivone Leong gene: WRN was added gene: WRN was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: WRN was set to |
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Childhood solid tumours v1.22 | VHL |
Ivone Leong gene: VHL was added gene: VHL was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: VHL was set to |
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Childhood solid tumours v1.22 | TSC2 |
Ivone Leong Source Expert List was added to TSC2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | TSC1 |
Ivone Leong Source Expert List was added to TSC1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | TRIP13 |
Ivone Leong Source Expert List was added to TRIP13. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | TRIM37 |
Ivone Leong Source Expert List was added to TRIM37. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | TP53 |
Ivone Leong Source Expert List was added to TP53. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | TNFRSF11A |
Ivone Leong gene: TNFRSF11A was added gene: TNFRSF11A was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: TNFRSF11A was set to |
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Childhood solid tumours v1.22 | TERT |
Ivone Leong gene: TERT was added gene: TERT was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: TERT was set to |
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Childhood solid tumours v1.22 | T |
Ivone Leong gene: T was added gene: T was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: T was set to |
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Childhood solid tumours v1.22 | SUFU |
Ivone Leong gene: SUFU was added gene: SUFU was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SUFU was set to |
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Childhood solid tumours v1.22 | STK11 |
Ivone Leong gene: STK11 was added gene: STK11 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: STK11 was set to |
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Childhood solid tumours v1.22 | SQSTM1 |
Ivone Leong gene: SQSTM1 was added gene: SQSTM1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SQSTM1 was set to |
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Childhood solid tumours v1.22 | SOS1 |
Ivone Leong gene: SOS1 was added gene: SOS1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SOS1 was set to |
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Childhood solid tumours v1.22 | SMARCB1 |
Ivone Leong Source Expert List was added to SMARCB1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | SMARCA4 |
Ivone Leong Source Expert List was added to SMARCA4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | SMAD4 |
Ivone Leong gene: SMAD4 was added gene: SMAD4 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SMAD4 was set to |
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Childhood solid tumours v1.22 | SHOC2 |
Ivone Leong gene: SHOC2 was added gene: SHOC2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SHOC2 was set to |
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Childhood solid tumours v1.22 | SLX4 |
Ivone Leong Source Expert List was added to SLX4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | REST |
Ivone Leong Source Expert List was added to REST. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | RET |
Ivone Leong Source Expert List was added to RET. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | RECQL4 |
Ivone Leong Source Expert List was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | RB1 |
Ivone Leong Source Expert List was added to RB1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | RAF1 |
Ivone Leong gene: RAF1 was added gene: RAF1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: RAF1 was set to |
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Childhood solid tumours v1.22 | RAD51C | Ivone Leong Source Expert List was added to RAD51C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | PTPN11 |
Ivone Leong Source Expert List was added to PTPN11. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | PTEN |
Ivone Leong Source Expert List was added to PTEN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | PTCH1 |
Ivone Leong Source Expert List was added to PTCH1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | PRKAR1A |
Ivone Leong gene: PRKAR1A was added gene: PRKAR1A was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: PRKAR1A was set to |
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Childhood solid tumours v1.22 | PMS2 |
Ivone Leong Source Expert List was added to PMS2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | PHOX2B |
Ivone Leong Source Expert List was added to PHOX2B. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | PDGFRA |
Ivone Leong gene: PDGFRA was added gene: PDGFRA was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: PDGFRA was set to |
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Childhood solid tumours v1.22 | PALB2 |
Ivone Leong Source Expert List was added to PALB2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | NSD1 |
Ivone Leong Source Expert List was added to NSD1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | NRAS |
Ivone Leong gene: NRAS was added gene: NRAS was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: NRAS was set to |
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Childhood solid tumours v1.22 | NOP10 |
Ivone Leong gene: NOP10 was added gene: NOP10 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: NOP10 was set to |
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Childhood solid tumours v1.22 | NHP2 |
Ivone Leong gene: NHP2 was added gene: NHP2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: NHP2 was set to |
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Childhood solid tumours v1.22 | NF2 |
Ivone Leong Source Expert List was added to NF2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | NF1 |
Ivone Leong Source Expert List was added to NF1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | NBN |
Ivone Leong Source Expert List was added to NBN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | MTAP |
Ivone Leong gene: MTAP was added gene: MTAP was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: MTAP was set to |
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Childhood solid tumours v1.22 | MSH6 |
Ivone Leong Source Expert List was added to MSH6. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | MSH2 |
Ivone Leong Source Expert List was added to MSH2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | MLH1 |
Ivone Leong Source Expert List was added to MLH1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | MEN1 |
Ivone Leong gene: MEN1 was added gene: MEN1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: MEN1 was set to |
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Childhood solid tumours v1.22 | MAP2K2 |
Ivone Leong gene: MAP2K2 was added gene: MAP2K2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: MAP2K2 was set to |
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Childhood solid tumours v1.22 | MAP2K1 |
Ivone Leong gene: MAP2K1 was added gene: MAP2K1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: MAP2K1 was set to |
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Childhood solid tumours v1.22 | KRAS |
Ivone Leong gene: KRAS was added gene: KRAS was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: KRAS was set to |
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Childhood solid tumours v1.22 | HRAS |
Ivone Leong Source Expert List was added to HRAS. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | GPC3 |
Ivone Leong Source Expert List was added to GPC3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCL |
Ivone Leong Source Expert List was added to FANCL. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCI |
Ivone Leong Source Expert List was added to FANCI. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCG |
Ivone Leong Source Expert List was added to FANCG. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCF |
Ivone Leong Source Expert List was added to FANCF. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCE |
Ivone Leong Source Expert List was added to FANCE. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCD2 |
Ivone Leong Source Expert List was added to FANCD2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCC |
Ivone Leong Source Expert List was added to FANCC. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCB |
Ivone Leong Source Expert List was added to FANCB. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | FANCA |
Ivone Leong Source Expert List was added to FANCA. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | EZH2 |
Ivone Leong Source Expert List was added to EZH2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | ERCC5 |
Ivone Leong gene: ERCC5 was added gene: ERCC5 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: ERCC5 was set to |
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Childhood solid tumours v1.22 | ERCC4 |
Ivone Leong Source Expert List was added to ERCC4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | ERCC3 |
Ivone Leong gene: ERCC3 was added gene: ERCC3 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: ERCC3 was set to |
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Childhood solid tumours v1.22 | ERCC2 |
Ivone Leong gene: ERCC2 was added gene: ERCC2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: ERCC2 was set to |
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Childhood solid tumours v1.22 | ERCC1 |
Ivone Leong gene: ERCC1 was added gene: ERCC1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: ERCC1 was set to |
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Childhood solid tumours v1.22 | DIS3L2 |
Ivone Leong Source Expert List was added to DIS3L2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | DICER1 |
Ivone Leong Source Expert List was added to DICER1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | DDB2 |
Ivone Leong gene: DDB2 was added gene: DDB2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: DDB2 was set to |
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Childhood solid tumours v1.22 | CDKN1C |
Ivone Leong Source Expert List was added to CDKN1C. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | CBL |
Ivone Leong Source Expert List was added to CBL. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | BUB1B |
Ivone Leong Source Expert List was added to BUB1B. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | BRIP1 |
Ivone Leong Source Expert List was added to BRIP1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | BRCA2 |
Ivone Leong Source Expert List was added to BRCA2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | BRCA1 |
Ivone Leong gene: BRCA1 was added gene: BRCA1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: BRCA1 was set to |
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Childhood solid tumours v1.22 | BRAF |
Ivone Leong gene: BRAF was added gene: BRAF was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: BRAF was set to |
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Childhood solid tumours v1.22 | BMPR1A |
Ivone Leong gene: BMPR1A was added gene: BMPR1A was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: BMPR1A was set to |
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Childhood solid tumours v1.22 | BLM |
Ivone Leong Source Expert List was added to BLM. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | ATM |
Ivone Leong Source Expert List was added to ATM. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | APC |
Ivone Leong Source Expert List was added to APC. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.22 | ALK |
Ivone Leong Source Expert List was added to ALK. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood solid tumours v1.20 |
Ellen McDonagh Panel name changed from Paediatric congenital malformation-dysmorphism-tumour syndrome to Tumour predisposition - childhood onset List of related panels changed from Paediatric congenital malformation-dysmorphism-tumour syndromes ; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome to Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
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Childhood solid tumours v1.19 | ISCA-37401-Loss |
Louise Daugherty Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Paediatric congenital malformation-dysmorphism-tumour syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072 |
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Childhood solid tumours | TRIP13 | Sarah Leigh classified TRIP13 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | TRIP13 | Sarah Leigh added TRIP13 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | TRIP13 | Sarah Leigh reviewed TRIP13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | RAD51C | Rebecca Foulger edited their review of RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | RAD51C | Rebecca Foulger classified RAD51C as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | RAD51C | Rebecca Foulger commented on RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | FANCB | Rebecca Foulger commented on FANCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | DIS3L2 | Louise Daugherty commented on DIS3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | FANCM | Rebecca Foulger classified FANCM as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | FANCM | Rebecca Foulger commented on FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | FANCM | Rebecca Foulger commented on FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | NOTCH3 | Ellen McDonagh commented on NOTCH3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | NOTCH3 | Ellen McDonagh added NOTCH3 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | NOTCH3 | Ellen McDonagh reviewed NOTCH3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | PDGFRB | Ellen McDonagh marked PDGFRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | PDGFRB | Ellen McDonagh classified PDGFRB as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | PDGFRB | Ellen McDonagh commented on PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | PDGFRB | Richard Scott added PDGFRB to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | PDGFRB | Richard Scott reviewed PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | KCNQ1OT1 | Ellen McDonagh commented on KCNQ1OT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours | H19 | Ellen McDonagh commented on H19 |