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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.
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).
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.
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).
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).
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).
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.
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
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
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).
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
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
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
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.
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)
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.
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)
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)
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.
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
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).
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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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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)
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)
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
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)
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)
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)
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)
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)
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)
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)
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)
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
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
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
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
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
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
Childhood solid tumours v1.26 TRIM37 Ivone Leong Source NHS GMS was added to TRIM37.
Added phenotypes Mulibrey nanism 253250 for gene: TRIM37
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
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
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
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)
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
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
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
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
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)
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
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
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
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
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)
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
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
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
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)
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
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
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
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
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
Childhood solid tumours v1.26 NSD1 Ivone Leong Source NHS GMS was added to NSD1.
Added phenotypes Sotos syndrome 1, 117550 for gene: NSD1
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
Childhood solid tumours v1.26 EZH2 Ivone Leong Source NHS GMS was added to EZH2.
Added phenotypes Weaver syndrome, 277590 for gene: EZH2
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
Childhood solid tumours v1.26 DIS3L2 Ivone Leong Source NHS GMS was added to DIS3L2.
Added phenotypes Perlman syndrome, 267000 for gene: DIS3L2
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
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
Childhood solid tumours v1.26 CDC73 Ivone Leong Source NHS GMS was added to CDC73.
Added phenotypes 145001 for gene: CDC73
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
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
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
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
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
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
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
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
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
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)
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)
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)
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)
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)
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)
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)
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)
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
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
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)
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
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
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)
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)
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)
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)
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)
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
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
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
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
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
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
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
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)
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)
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
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
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)
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)
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)
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)
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)
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
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)
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)
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)
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
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)
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)
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
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)
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)
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
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
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
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)
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)
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)
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
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)
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)
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)
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
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
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
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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)
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
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
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
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)
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)
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
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)
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)
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)
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)
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)
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
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
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
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)
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)
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)
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)
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
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
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