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Neurofibromatosis Type 1 v1.33 Eleanor Williams List of related panels changed from to
Neurofibromatosis Type 1 v1.32 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34476477; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, MONDO:0018975, Renovascular hypertension, MONDO:0006947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurofibromatosis Type 1 v1.32 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168 to McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168
Neurofibromatosis Type 1 v1.31 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from McCune-Albright syndrome, 174800; Pseudohypoparathyroidism Ia to McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168
Neurofibromatosis Type 1 v1.30 GNAS Sarah Leigh Publications for gene: GNAS were set to 1944469,1594625
Neurofibromatosis Type 1 v1.29 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Fanconi Anemia; Fanconi Anaemia to Fanconi anemia, complementation group J, OMIM:609054
Neurofibromatosis Type 1 v1.28 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3}, 613029; Pancreatic cancer, 613347; {Glioblastoma 3},; Fanconi Anemia; Fanconi Anaemia to Fanconi anemia, complementation group D1, OMIM:605724
Neurofibromatosis Type 1 v1.27 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
Neurofibromatosis Type 1 v1.27 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
Neurofibromatosis Type 1 v1.25 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Neurofibromatosis Type 1. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Neurofibromatosis Type 1 POLA1 Louise Daugherty classified POLA1 as Amber List (moderate evidence)
Neurofibromatosis Type 1 POLA1 Louise Daugherty Added gene to panel
Neurofibromatosis Type 1 FANCM Ellen McDonagh reviewed FANCM
Neurofibromatosis Type 1 SPRED1 Louise Daugherty commented on SPRED1
Neurofibromatosis Type 1 NF1 Louise Daugherty commented on NF1
Neurofibromatosis Type 1 KITLG Louise Daugherty commented on KITLG
Neurofibromatosis Type 1 KITLG Helen Brittain marked KITLG as ready
Neurofibromatosis Type 1 KITLG Helen Brittain classified KITLG as green
Neurofibromatosis Type 1 KITLG Helen Brittain added KITLG to panel
Neurofibromatosis Type 1 KITLG Helen Brittain reviewed KITLG
Neurofibromatosis Type 1 RAD51C Rebecca Foulger edited their review of RAD51C
Neurofibromatosis Type 1 RAD51C Rebecca Foulger classified RAD51C as amber
Neurofibromatosis Type 1 RAD51C Rebecca Foulger commented on RAD51C
Neurofibromatosis Type 1 GNAS Helen Brittain commented on GNAS
Neurofibromatosis Type 1 FANCB Rebecca Foulger commented on FANCB
Neurofibromatosis Type 1 FANCM Rebecca Foulger classified FANCM as red
Neurofibromatosis Type 1 FANCM Rebecca Foulger commented on FANCM
Neurofibromatosis Type 1 FANCM Rebecca Foulger commented on FANCM
Neurofibromatosis Type 1 Alice Gardham promoted panel to version 1
Neurofibromatosis Type 1 MAP2K1 Alice Gardham marked MAP2K1 as ready
Neurofibromatosis Type 1 MAP2K1 Alice Gardham added MAP2K1 to panel
Neurofibromatosis Type 1 MAP2K1 Alice Gardham reviewed MAP2K1
Neurofibromatosis Type 1 BRAF Alice Gardham marked BRAF as ready
Neurofibromatosis Type 1 BRAF Alice Gardham commented on BRAF
Neurofibromatosis Type 1 BRAF Alice Gardham added BRAF to panel
Neurofibromatosis Type 1 BRAF Alice Gardham reviewed BRAF
Neurofibromatosis Type 1 RAF1 Alice Gardham classified RAF1 as green
Neurofibromatosis Type 1 RAF1 Alice Gardham marked RAF1 as ready
Neurofibromatosis Type 1 RAF1 Alice Gardham classified RAF1 as amber
Neurofibromatosis Type 1 RAF1 Alice Gardham added RAF1 to panel
Neurofibromatosis Type 1 RAF1 Alice Gardham reviewed RAF1
Neurofibromatosis Type 1 PTPN11 Alice Gardham marked PTPN11 as ready
Neurofibromatosis Type 1 PTPN11 Alice Gardham classified PTPN11 as green
Neurofibromatosis Type 1 PTPN11 Alice Gardham added PTPN11 to panel
Neurofibromatosis Type 1 PTPN11 Alice Gardham reviewed PTPN11
Neurofibromatosis Type 1 UBE2T Alice Gardham marked UBE2T as ready
Neurofibromatosis Type 1 ERCC4 Alice Gardham marked ERCC4 as ready
Neurofibromatosis Type 1 ERCC4 Alice Gardham classified ERCC4 as red
Neurofibromatosis Type 1 RAD51C Alice Gardham marked RAD51C as ready
Neurofibromatosis Type 1 GNAS Alice Gardham marked GNAS as ready
Neurofibromatosis Type 1 FANCM Alice Gardham marked FANCM as ready
Neurofibromatosis Type 1 SPRED1 Alice Gardham marked SPRED1 as ready
Neurofibromatosis Type 1 SLX4 Alice Gardham marked SLX4 as ready
Neurofibromatosis Type 1 PMS2 Alice Gardham marked PMS2 as ready
Neurofibromatosis Type 1 PALB2 Alice Gardham marked PALB2 as ready
Neurofibromatosis Type 1 NF1 Alice Gardham marked NF1 as ready
Neurofibromatosis Type 1 MSH6 Alice Gardham marked MSH6 as ready
Neurofibromatosis Type 1 MSH2 Alice Gardham marked MSH2 as ready
Neurofibromatosis Type 1 MLH1 Alice Gardham marked MLH1 as ready
Neurofibromatosis Type 1 FANCL Alice Gardham marked FANCL as ready
Neurofibromatosis Type 1 FANCI Alice Gardham marked FANCI as ready
Neurofibromatosis Type 1 FANCG Alice Gardham marked FANCG as ready
Neurofibromatosis Type 1 FANCF Alice Gardham marked FANCF as ready
Neurofibromatosis Type 1 FANCE Alice Gardham marked FANCE as ready
Neurofibromatosis Type 1 FANCD2 Alice Gardham marked FANCD2 as ready
Neurofibromatosis Type 1 FANCC Alice Gardham marked FANCC as ready
Neurofibromatosis Type 1 FANCB Alice Gardham marked FANCB as ready
Neurofibromatosis Type 1 FANCA Alice Gardham marked FANCA as ready
Neurofibromatosis Type 1 BRIP1 Alice Gardham marked BRIP1 as ready
Neurofibromatosis Type 1 BRCA2 Alice Gardham marked BRCA2 as ready
Neurofibromatosis Type 1 UBE2T Alice Gardham added UBE2T to panel
Neurofibromatosis Type 1 UBE2T Alice Gardham reviewed UBE2T
Neurofibromatosis Type 1 SLX4 Alice Gardham reviewed SLX4
Neurofibromatosis Type 1 PALB2 Alice Gardham reviewed PALB2
Neurofibromatosis Type 1 FANCM Alice Gardham reviewed FANCM
Neurofibromatosis Type 1 FANCL Alice Gardham reviewed FANCL
Neurofibromatosis Type 1 ERCC4 Alice Gardham reviewed ERCC4
Neurofibromatosis Type 1 RAD51C Alice Gardham reviewed RAD51C
Neurofibromatosis Type 1 PMS2 Alice Gardham added PMS2 to panel
Neurofibromatosis Type 1 PMS2 Alice Gardham reviewed PMS2
Neurofibromatosis Type 1 MSH6 Alice Gardham added MSH6 to panel
Neurofibromatosis Type 1 MSH6 Alice Gardham reviewed MSH6
Neurofibromatosis Type 1 MSH2 Alice Gardham added MSH2 to panel
Neurofibromatosis Type 1 MSH2 Alice Gardham reviewed MSH2
Neurofibromatosis Type 1 SPRED1 Alice Gardham classified SPRED1 as green
Neurofibromatosis Type 1 GNAS Alice Gardham classified GNAS as green
Neurofibromatosis Type 1 MLH1 Alice Gardham added MLH1 to panel
Neurofibromatosis Type 1 MLH1 Alice Gardham reviewed MLH1
Neurofibromatosis Type 1 GNAS Alice Gardham added GNAS to panel
Neurofibromatosis Type 1 GNAS Alice Gardham reviewed GNAS
Neurofibromatosis Type 1 SPRED1 Alice Gardham edited their review of SPRED1
Neurofibromatosis Type 1 SPRED1 Alice Gardham added SPRED1 to panel
Neurofibromatosis Type 1 SPRED1 Alice Gardham reviewed SPRED1
Neurofibromatosis Type 1 NF1 Ellen McDonagh commented on NF1
Neurofibromatosis Type 1 NF1 Ellen McDonagh added NF1 to panel
Neurofibromatosis Type 1 NF1 Ellen McDonagh reviewed NF1
Neurofibromatosis Type 1 Ellen McDonagh approved panel