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Childhood solid tumours cancer susceptibility v1.3 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual
Childhood solid tumours cancer susceptibility v1.2 Ellen McDonagh Panel name changed from Childhood solid tumours pertinent cancer susceptibility to Childhood solid tumours cancer susceptibility
List of related panels changed from Childhood to Childhood;Childhood solid tumours pertinent cancer susceptibility
Childhood solid tumours cancer susceptibility v1.1 TRIP13 Ellen McDonagh gene: TRIP13 was added
gene: TRIP13 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3 617598
Childhood solid tumours cancer susceptibility v1.1 TRIM37 Ellen McDonagh gene: TRIM37 was added
gene: TRIM37 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism 253250
Childhood solid tumours cancer susceptibility v1.1 SQSTM1 Ellen McDonagh gene: SQSTM1 was added
gene: SQSTM1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SQSTM1 were set to Paget disease of bone 3 167250; Osteosarcoma
Childhood solid tumours cancer susceptibility v1.1 SLX4 Ellen McDonagh gene: SLX4 was added
gene: SLX4 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, 613951
Childhood solid tumours cancer susceptibility v1.1 REST Ellen McDonagh gene: REST was added
gene: REST was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to} 616806
Childhood solid tumours cancer susceptibility v1.1 PDGFRA Ellen McDonagh gene: PDGFRA was added
gene: PDGFRA was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDGFRA were set to Familial GIST; Gastrointestinal stromal tumor, somatic 606764
Childhood solid tumours cancer susceptibility v1.1 NSD1 Ellen McDonagh gene: NSD1 was added
gene: NSD1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome 1, 117550
Childhood solid tumours cancer susceptibility v1.1 HRAS Ellen McDonagh Source Expert Review Amber was added to HRAS.
Added phenotypes Costello syndrome for gene: HRAS
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Childhood solid tumours cancer susceptibility v1.1 GPC3 Ellen McDonagh gene: GPC3 was added
gene: GPC3 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Wilms tumor, somatic, 194070; Simpson-Golabi-Behmel syndrome, type 1, 312870
Childhood solid tumours cancer susceptibility v1.1 FANCB Ellen McDonagh gene: FANCB was added
gene: FANCB was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514
Childhood solid tumours cancer susceptibility v1.1 EZH2 Ellen McDonagh gene: EZH2 was added
gene: EZH2 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to Weaver syndrome, 277590
Childhood solid tumours cancer susceptibility v1.1 DIS3L2 Ellen McDonagh gene: DIS3L2 was added
gene: DIS3L2 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000
Childhood solid tumours cancer susceptibility v1.1 BUB1B Ellen McDonagh gene: BUB1B was added
gene: BUB1B was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1 257300
Childhood solid tumours cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Childhood solid tumours cancer susceptibility SH2B3 Ellen McDonagh classified SH2B3 as No list
Childhood solid tumours cancer susceptibility FANCM Ellen McDonagh edited their review of FANCM
Childhood solid tumours cancer susceptibility RAD51C Rebecca Foulger edited their review of RAD51C
Childhood solid tumours cancer susceptibility RAD51C Rebecca Foulger classified RAD51C as amber
Childhood solid tumours cancer susceptibility RAD51C Rebecca Foulger commented on RAD51C
Childhood solid tumours cancer susceptibility ATM Ellen McDonagh commented on ATM
Childhood solid tumours cancer susceptibility RET Ellen McDonagh commented on RET
Childhood solid tumours cancer susceptibility FANCM Ellen McDonagh edited their review of FANCM
Childhood solid tumours cancer susceptibility FANCM Ellen McDonagh classified FANCM as amber
Childhood solid tumours cancer susceptibility FANCM Ellen McDonagh edited their review of FANCM
Childhood solid tumours cancer susceptibility PMS2 Ellen McDonagh commented on PMS2
Childhood solid tumours cancer susceptibility PALB2 Ellen McDonagh commented on PALB2
Childhood solid tumours cancer susceptibility MSH6 Ellen McDonagh commented on MSH6
Childhood solid tumours cancer susceptibility MSH2 Ellen McDonagh commented on MSH2
Childhood solid tumours cancer susceptibility MSH2 Ellen McDonagh commented on MSH2
Childhood solid tumours cancer susceptibility MLH1 Ellen McDonagh commented on MLH1
Childhood solid tumours cancer susceptibility BRCA2 Ellen McDonagh commented on BRCA2
Childhood solid tumours cancer susceptibility BRCA1 Ellen McDonagh commented on BRCA1
Childhood solid tumours cancer susceptibility BRCA1 Ellen McDonagh commented on BRCA1
Childhood solid tumours cancer susceptibility Ellen McDonagh approved panel
Childhood solid tumours cancer susceptibility FANCM Ellen McDonagh classified FANCM as red
Childhood solid tumours cancer susceptibility FANCM Ellen McDonagh commented on FANCM
Childhood solid tumours cancer susceptibility XPC Clare Turnbull reviewed XPC
Childhood solid tumours cancer susceptibility XPA Clare Turnbull reviewed XPA
Childhood solid tumours cancer susceptibility WRN Clare Turnbull reviewed WRN
Childhood solid tumours cancer susceptibility TERT Clare Turnbull reviewed TERT
Childhood solid tumours cancer susceptibility SH2B3 Clare Turnbull reviewed SH2B3
Childhood solid tumours cancer susceptibility RECQL4 Clare Turnbull reviewed RECQL4
Childhood solid tumours cancer susceptibility RAD51C Clare Turnbull reviewed RAD51C
Childhood solid tumours cancer susceptibility NOP10 Clare Turnbull reviewed NOP10
Childhood solid tumours cancer susceptibility NHP2 Clare Turnbull reviewed NHP2
Childhood solid tumours cancer susceptibility NBN Clare Turnbull reviewed NBN
Childhood solid tumours cancer susceptibility FANCM Clare Turnbull reviewed FANCM
Childhood solid tumours cancer susceptibility FANCL Clare Turnbull reviewed FANCL
Childhood solid tumours cancer susceptibility FANCI Clare Turnbull reviewed FANCI
Childhood solid tumours cancer susceptibility FANCG Clare Turnbull reviewed FANCG
Childhood solid tumours cancer susceptibility FANCF Clare Turnbull reviewed FANCF
Childhood solid tumours cancer susceptibility FANCE Clare Turnbull reviewed FANCE
Childhood solid tumours cancer susceptibility FANCD2 Clare Turnbull reviewed FANCD2
Childhood solid tumours cancer susceptibility FANCC Clare Turnbull reviewed FANCC
Childhood solid tumours cancer susceptibility FANCA Clare Turnbull reviewed FANCA
Childhood solid tumours cancer susceptibility ERCC5 Clare Turnbull reviewed ERCC5
Childhood solid tumours cancer susceptibility ERCC4 Clare Turnbull reviewed ERCC4
Childhood solid tumours cancer susceptibility ERCC3 Clare Turnbull reviewed ERCC3
Childhood solid tumours cancer susceptibility ERCC2 Clare Turnbull reviewed ERCC2
Childhood solid tumours cancer susceptibility ERCC1 Clare Turnbull reviewed ERCC1
Childhood solid tumours cancer susceptibility DDB2 Clare Turnbull reviewed DDB2
Childhood solid tumours cancer susceptibility BLM Clare Turnbull reviewed BLM
Childhood solid tumours cancer susceptibility PMS2 Clare Turnbull reviewed PMS2
Childhood solid tumours cancer susceptibility PALB2 Clare Turnbull reviewed PALB2
Childhood solid tumours cancer susceptibility MSH6 Clare Turnbull reviewed MSH6
Childhood solid tumours cancer susceptibility MSH2 Clare Turnbull reviewed MSH2
Childhood solid tumours cancer susceptibility MLH1 Clare Turnbull reviewed MLH1
Childhood solid tumours cancer susceptibility BRIP1 Clare Turnbull reviewed BRIP1
Childhood solid tumours cancer susceptibility BRCA2 Clare Turnbull reviewed BRCA2
Childhood solid tumours cancer susceptibility BRCA1 Clare Turnbull reviewed BRCA1
Childhood solid tumours cancer susceptibility ATM Clare Turnbull reviewed ATM
Childhood solid tumours cancer susceptibility WT1 Clare Turnbull reviewed WT1
Childhood solid tumours cancer susceptibility VHL Clare Turnbull reviewed VHL
Childhood solid tumours cancer susceptibility TSC2 Clare Turnbull reviewed TSC2
Childhood solid tumours cancer susceptibility TSC1 Clare Turnbull reviewed TSC1
Childhood solid tumours cancer susceptibility TP53 Clare Turnbull reviewed TP53
Childhood solid tumours cancer susceptibility SUFU Clare Turnbull reviewed SUFU
Childhood solid tumours cancer susceptibility STK11 Clare Turnbull reviewed STK11
Childhood solid tumours cancer susceptibility SOS1 Clare Turnbull reviewed SOS1
Childhood solid tumours cancer susceptibility SMARCB1 Clare Turnbull reviewed SMARCB1
Childhood solid tumours cancer susceptibility SMARCA4 Clare Turnbull reviewed SMARCA4
Childhood solid tumours cancer susceptibility SMAD4 Clare Turnbull reviewed SMAD4
Childhood solid tumours cancer susceptibility SHOC2 Clare Turnbull reviewed SHOC2
Childhood solid tumours cancer susceptibility RET Clare Turnbull reviewed RET
Childhood solid tumours cancer susceptibility RB1 Clare Turnbull reviewed RB1
Childhood solid tumours cancer susceptibility RAF1 Clare Turnbull reviewed RAF1
Childhood solid tumours cancer susceptibility PTPN11 Clare Turnbull reviewed PTPN11
Childhood solid tumours cancer susceptibility PTEN Clare Turnbull reviewed PTEN
Childhood solid tumours cancer susceptibility PTCH1 Clare Turnbull reviewed PTCH1
Childhood solid tumours cancer susceptibility PRKAR1A Clare Turnbull reviewed PRKAR1A
Childhood solid tumours cancer susceptibility PHOX2B Clare Turnbull reviewed PHOX2B
Childhood solid tumours cancer susceptibility PAX5 Clare Turnbull reviewed PAX5
Childhood solid tumours cancer susceptibility NRAS Clare Turnbull reviewed NRAS
Childhood solid tumours cancer susceptibility NF2 Clare Turnbull reviewed NF2
Childhood solid tumours cancer susceptibility NF1 Clare Turnbull reviewed NF1
Childhood solid tumours cancer susceptibility MEN1 Clare Turnbull reviewed MEN1
Childhood solid tumours cancer susceptibility MAP2K2 Clare Turnbull reviewed MAP2K2
Childhood solid tumours cancer susceptibility MAP2K1 Clare Turnbull reviewed MAP2K1
Childhood solid tumours cancer susceptibility KRAS Clare Turnbull reviewed KRAS
Childhood solid tumours cancer susceptibility HRAS Clare Turnbull reviewed HRAS
Childhood solid tumours cancer susceptibility DICER1 Clare Turnbull reviewed DICER1
Childhood solid tumours cancer susceptibility CDKN1C Clare Turnbull reviewed CDKN1C
Childhood solid tumours cancer susceptibility CBL Clare Turnbull reviewed CBL
Childhood solid tumours cancer susceptibility BRAF Clare Turnbull reviewed BRAF
Childhood solid tumours cancer susceptibility BMPR1A Clare Turnbull reviewed BMPR1A
Childhood solid tumours cancer susceptibility APC Clare Turnbull reviewed APC
Childhood solid tumours cancer susceptibility ALK Clare Turnbull reviewed ALK