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Panel Panel Additional findings health related Additional findings health related - adults Additional findings health related - adult specific Additional findings health related - children Additional findings health related - CNV analysis adults Additional findings health related - CNV analysis adult specific Additional findings health related - CNV analysis children Additional findings reproductive carrier status Adult onset movement disorder Adult solid tumours cancer susceptibility Adult solid tumours for rare disease Albinism or congenital nystagmus Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis/motor neuron disease Aniridia Anophthalmia or microphthalmia Arrhythmogenic cardiomyopathy Arthrogryposis Ataxia and cerebellar anomalies - narrow panel Atypical haemolytic uraemic syndrome Auditory Neuropathy Spectrum Disorder Autism Autosomal recessive congenital ichthyosis Autosomal recessive primary hypertrophic osteoarthropathy Bardet Biedl syndrome Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Bladder cancer pertinent cancer susceptibility Bleeding and platelet disorders Brain cancer pertinent cancer susceptibility Brain channelopathy Breast cancer pertinent cancer susceptibility Brugada syndrome CAKUT Cardiac arrhythmias Cardiac arrhythmias - additional genes Cardiomyopathies - including childhood onset Cataracts Catecholaminergic polymorphic VT Cerebellar hypoplasia Cerebral folate deficiency Cerebral malformations Cerebral vascular malformations CHARGE syndrome Childhood onset dystonia or chorea or related movement disorder Childhood solid tumours cancer susceptibility Choanal atresia Cholestasis Chondrodysplasia punctata Classical tuberous sclerosis Clefting ClinGen_Familial thoracic aortic aneurysm and aortic dissection ClinGen Gene Validity Curations Colorectal cancer pertinent cancer susceptibility Combined factor V and VIII deficiency Common craniosynostosis syndromes Confirmed Fanconi anaemia or Bloom syndrome Congenital adrenal hypoplasia Congenital disorders of glycosylation Congenital fibrosis of the extraocular muscles Congenital hyperinsulinism Congenital hypothyroidism Congenital muscular dystrophy Congenital myaesthenic syndrome Congenital myopathy Corneal abnormalities Corneal dystrophies COVID-19 research Craniosynostosis Currarino triad Cutaneous photosensitivity with a likely genetic cause Cystic kidney disease Cystic renal disease Cytopenia - NOT Fanconi anaemia Cytopenias and congenital anaemias DDG2P Deafness and congenital structural abnormalities Diabetes - neonatal onset Diabetes with additional phenotypes suggestive of a monogenic aetiology Dilated cardiomyopathy - adult and teen Dilated Cardiomyopathy and conduction defects Disorders of sex development Distal myopathies Ductal plate malformation Early onset dementia (encompassing fronto-temporal dementia and prion disease) Early onset dystonia Ectodermal dysplasia Ectodermal dysplasia without a known gene mutation Ehlers Danlos syndromes Endocrine neoplasms Endometrial cancer pertinent cancer susceptibility Epidermodysplasia verruciformis Epidermolysis bullosa Epidermolysis bullosa and congenital skin fragility Erythropoietic protoporphyria, mild variant Extreme early-onset hypertension Familial breast cancer Familial cerebral small vessel disease Familial cicatricial alopecia Familial diabetes Familial disseminated superficial actinic porokeratosis Familial dysautonomia Familial hidradenitis suppurativa Familial Hirschsprung Disease Familial hypercholesterolaemia Familial hypercholesterolaemia - targeted panel Familial hyperparathyroidism Familial hypoparathyroidism Familial melanoma Familial Meniere Disease Familial Neural Tube Defects Familial non syndromic congenital heart disease Familial prostate cancer Familial pulmonary fibrosis Familial rhabdomyosarcoma Familial tumoral calcinosis Familial Tumours Syndromes of the central & peripheral Nervous system Fetal anomalies Fetal hydrops Gastrointestinal epithelial barrier disorders Gastrointestinal neuromuscular disorders Generalised pustular psoriasis Gene therapy clinical trials Genetic epilepsy syndromes Genodermatoses with malignancies GI tract tumours Glaucoma (developmental) Glycogen storage disease Groopman et al 2019 - Genes with diagnostic variants Growth failure in early childhood Haematological malignancies cancer susceptibility Haematological malignancies for rare disease Haematuria Head and neck cancer pertinent cancer susceptibility Hearing loss Hereditary ataxia Hereditary ataxia - adult onset Hereditary ataxia and cerebellar anomalies - childhood onset Hereditary Erythrocytosis Hereditary haemorrhagic telangiectasia Hereditary neuropathy Hereditary neuropathy NOT PMP22 copy number Hereditary spastic paraplegia Hereditary spastic paraplegia - adult onset Hereditary spastic paraplegia - childhood onset Holoprosencephaly Hydroa vacciniforme Hydrocephalus Hyperammonaemia Hyperthyroidism Hypertrophic cardiomyopathy - teen and adult Hypocalciuric hypercalcaemia Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism idiopathic Hypophosphataemia or rickets Hypotonic infant Ichthyosis and erythrokeratoderma Idiopathic ventricular fibrillation Inborn errors of metabolism Infantile enterocolitis & monogenic inflammatory bowel disease Infantile nystagmus Inherited bleeding disorders Inherited MMR deficiency (Lynch syndrome) Inherited non-medullary thyroid cancer Inherited ovarian cancer (without breast cancer) Inherited pancreatic cancer Inherited phaeochromocytoma and paraganglioma Inherited phaeochromocytoma and paraganglioma excluding NF1 Inherited polyposis Inherited predisposition to acute myeloid leukaemia (AML) Inherited predisposition to GIST Inherited renal cancer Inherited white matter disorders Insulin resistance (including lipodystrophy) Intellectual disability Intestinal failure Intracerebral calcification disorders Iron metabolism disorders IUGR and IGF abnormalities Juvenile dermatomyositis Kabuki syndrome Ketotic hypoglycaemia Kleine-Levin syndrome Laterality disorders and isomerism Leber hereditary optic neuropathy Left Ventricular Noncompaction Cardiomyopathy Limb disorders Limb girdle muscular dystrophy Lipodystrophy - childhood onset Lipoprotein lipase deficiency Long QT syndrome Lung cancer pertinent cancer susceptibility Lysosomal storage disorder Malformations of cortical development Melanoma pertinent cancer susceptibility Membranoproliferative glomerulonephritis Mitochondrial disorders Mitochondrial disorder with complex I deficiency Mitochondrial disorder with complex II deficiency Mitochondrial disorder with complex III deficiency Mitochondrial disorder with complex IV deficiency Mitochondrial disorder with complex V deficiency Mitochondrial DNA maintenance disorder Mitochondrial liver disease Monogenic diabetes Monogenic nephrogenic diabetes insipidus Mosaic skin disorders - deep sequencing Mucopolysaccharideosis, Gaucher, Fabry Multi-organ autoimmune diabetes Multiple endocrine tumours Multiple Epiphyseal Dysplasia Multiple lipomas Multiple monogenic benign skin tumours Neonatal cholestasis Nephrocalcinosis or nephrolithiasis Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Neurodegenerative disorders - adult onset Neuroendocrine cancer pertinent cancer susceptibility Neurofibromatosis Type 1 Neurological ciliopathies Neurological segmental overgrowth Neuromuscular disorders Neuronal ceroid lipofuscinosis Neurotransmitter disorders Non-acute porphyrias Non-CF bronchiectasis Non-syndromic familial congenital anorectal malformations Non-syndromic hypotrichosis Ocular and oculo-cutaneous albinism Ocular coloboma Ophthalmological ciliopathies Optic neuropathy Osteogenesis imperfecta Ovarian cancer pertinent cancer susceptibility Paediatric disorders Paediatric disorders - additional genes Paediatric motor neuronopathies Pain syndromes Palmoplantar keratoderma and erythrokeratodermas Palmoplantar keratodermas Pancreatitis Parathyroid Cancer Parkinson Disease and Complex Parkinsonism Paroxysmal central nervous system disorders Peeling skin syndrome Periodic fever syndromes Peroxisomal disorders PHACE(S) syndrome Pigmentary skin disorders Pituitary hormone deficiency Pityriasis rubra pilaris Pneumothorax - familial Polycystic liver disease interim Possible mitochondrial disorder - nuclear genes Primary ciliary disorders Primary immunodeficiency Primary lymphoedema Primary ovarian insufficiency Primary pigmented nodular adrenocortical disease Progressive cardiac conduction disease Prostate cancer pertinent cancer susceptibility Proteinuric renal disease Pulmonary arterial hypertension Pyruvate dehydrogenase (PDH) deficiency Radial dysplasia Rare anaemia Rare genetic inflammatory skin disorders Rare multisystem ciliopathy disorders Rare multisystem ciliopathy Super panel RASopathies Refuted genes Renal cancer pertinent cancer susceptibility Renal ciliopathies Renal superpanel - broad Renal superpanel - narrow Renal tubulopathies Respiratory ciliopathies including non-CF bronchiectasis Retinal disorders Rhabdoid tumour predisposition Rhabdomyolysis and metabolic muscle disorders Sarcoma cancer susceptibility Sarcoma susceptibility Segmental overgrowth disorders Severe early-onset obesity Severe familial anorexia Severe hypertriglyceridaemia Severe microcephaly Severe multi-system atopic disease with high IgE Severe Paediatric Disorders Short QT syndrome Silver Russell syndrome Skeletal ciliopathies Skeletal dysplasia Skeletal Muscle Channelopathies Skeletal muscle channelopathy Stickler syndrome Structural basal ganglia disorders Structural eye disease Sudden cardiac death Sudden death in young people Surfactant deficiency Testicular cancer pertinent cancer susceptibility Thoracic aortic aneurysm and dissection Thoracic aortic aneurysm or dissection Thoracic dystrophies Thrombophilia Thyroid cancer pertinent cancer susceptibility Tubulointerstitial kidney disease Tumour predisposition - childhood onset Ultra-rare undescribed monogenic disorders Undiagnosed metabolic disorders Undiagnosed monogenic disorder seen in a specialist genetics clinic Unexplained kidney failure in young people Unexplained paediatric onset end-stage renal disease Upper gastrointestinal cancer pertinent cancer susceptibility VACTERL-like phenotypes Vascular skin disorders Vici Syndrome and other autophagy disorders Viral resistance White matter disorders - adult onset White matter disorders and cerebral calcification - narrow panel White matter disorders - childhood onset Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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Date	Panel	Item	Activity
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04 Mar 2020	Inherited polyposis v1.3		Catherine Snow Panel version has been signed off
15 Oct 2019	Inherited polyposis v1.0		Rebecca Foulger promoted panel to version 1.0
15 Oct 2019	Inherited polyposis v0.56		Rebecca Foulger Panel types changed to GMS Rare Disease; GMS signed-off
03 Sep 2019	Inherited polyposis v0.55	NTHL1	Ivone Leong Classified gene: NTHL1 as Green List (high evidence)
03 Sep 2019	Inherited polyposis v0.55	NTHL1	Ivone Leong Added comment: Comment on list classification: This gene has been promoted from amber to green after further discussion with the GMS Inherited Cancer Specialist Test Group.
03 Sep 2019	Inherited polyposis v0.55	NTHL1	Ivone Leong Gene: nthl1 has been classified as Green List (High Evidence).
05 Aug 2019	Inherited polyposis v0.53		Ivone Leong List of related panels changed from R211 to R211; R209
05 Aug 2019	Inherited polyposis v0.51	MSH3	Ivone Leong Added comment: Comment on mode of inheritance: Corrected the MOI. Changed Monoallelic to Biallelic.
05 Aug 2019	Inherited polyposis v0.51	MSH3	Ivone Leong Mode of inheritance for gene: MSH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
02 Aug 2019	Inherited polyposis v0.50	NTHL1	Ivone Leong Added phenotypes Familial adenomatous polyposis 3 616415 for gene: NTHL1
02 Aug 2019	Inherited polyposis v0.50	GREM1	Ivone Leong Added phenotypes Hereditary Mixed Polyposis Syndrome; Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Polyposis Syndrome, Hereditary Mixed, 1; Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217) for gene: GREM1
02 Aug 2019	Inherited polyposis v0.50	STK11	Ivone Leong Added phenotypes Peutz-Jeghers syndrome 175200 for gene: STK11
02 Aug 2019	Inherited polyposis v0.50	SMAD4	Ivone Leong Added phenotypes Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4
02 Aug 2019	Inherited polyposis v0.50	PTEN	Ivone Leong Added phenotypes Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome for gene: PTEN
02 Aug 2019	Inherited polyposis v0.50	POLE	Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD for gene: POLE
02 Aug 2019	Inherited polyposis v0.50	POLD1	Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 10} 612591 for gene: POLD1
02 Aug 2019	Inherited polyposis v0.50	PMS2	Ivone Leong Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR for gene: PMS2
02 Aug 2019	Inherited polyposis v0.50	MUTYH	Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 for gene: MUTYH
02 Aug 2019	Inherited polyposis v0.50	MSH6	Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 for gene: MSH6
02 Aug 2019	Inherited polyposis v0.50	MSH2	Ivone Leong Added phenotypes Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR for gene: MSH2
02 Aug 2019	Inherited polyposis v0.50	MLH1	Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD for gene: MLH1
02 Aug 2019	Inherited polyposis v0.50	EPCAM	Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer for gene: EPCAM
02 Aug 2019	Inherited polyposis v0.50	BMPR1A	Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis for gene: BMPR1A
02 Aug 2019	Inherited polyposis v0.50	APC	Ivone Leong Added phenotypes Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 for gene: APC
01 Aug 2019	Inherited polyposis v0.49	EPCAM	Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer.
01 Aug 2019	Inherited polyposis v0.49		Ivone Leong Panel name changed from Inherited polyposis, R211 to Inherited polyposis List of related panels changed from to R211
31 Jul 2019	Inherited polyposis v0.48	POLD1	Ivone Leong commented on gene: POLD1: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
31 Jul 2019	Inherited polyposis v0.48	PMS2	Ivone Leong commented on gene: PMS2
31 Jul 2019	Inherited polyposis v0.48	MUTYH	Ivone Leong commented on gene: MUTYH
31 Jul 2019	Inherited polyposis v0.48	MSH6	Ivone Leong commented on gene: MSH6
31 Jul 2019	Inherited polyposis v0.48	MLH1	Ivone Leong commented on gene: MLH1
31 Jul 2019	Inherited polyposis v0.48	MSH2	Ivone Leong commented on gene: MSH2
31 Jul 2019	Inherited polyposis v0.48	EPCAM	Ivone Leong commented on gene: EPCAM
31 Jul 2019	Inherited polyposis v0.48	BMPR1A	Ivone Leong commented on gene: BMPR1A
31 Jul 2019	Inherited polyposis v0.48	APC	Ivone Leong commented on gene: APC
31 Jul 2019	Inherited polyposis v0.48		Ivone Leong Panel name changed from Inherited polyposis to Inherited polyposis, R211
01 Feb 2019	Inherited polyposis v0.47	POLE	Ivone Leong Classified gene: POLE as Green List (high evidence)
01 Feb 2019	Inherited polyposis v0.47	POLE	Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated green.
01 Feb 2019	Inherited polyposis v0.47	POLE	Ivone Leong Gene: pole has been classified as Green List (High Evidence).
01 Feb 2019	Inherited polyposis v0.46	POLD1	Ivone Leong Classified gene: POLD1 as Green List (high evidence)
01 Feb 2019	Inherited polyposis v0.46	POLD1	Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated green.
01 Feb 2019	Inherited polyposis v0.46	POLD1	Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
01 Feb 2019	Inherited polyposis v0.45	NTHL1	Ivone Leong Classified gene: NTHL1 as Amber List (moderate evidence)
01 Feb 2019	Inherited polyposis v0.45	NTHL1	Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
01 Feb 2019	Inherited polyposis v0.45	NTHL1	Ivone Leong Gene: nthl1 has been classified as Amber List (Moderate Evidence).
01 Feb 2019	Inherited polyposis v0.44	GREM1	Ivone Leong Classified gene: GREM1 as Amber List (moderate evidence)
01 Feb 2019	Inherited polyposis v0.44	GREM1	Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
01 Feb 2019	Inherited polyposis v0.44	GREM1	Ivone Leong Gene: grem1 has been classified as Amber List (Moderate Evidence).
01 Feb 2019	Inherited polyposis v0.43	RNF43	Ivone Leong Classified gene: RNF43 as Amber List (moderate evidence)
01 Feb 2019	Inherited polyposis v0.43	RNF43	Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
01 Feb 2019	Inherited polyposis v0.43	RNF43	Ivone Leong Gene: rnf43 has been classified as Amber List (Moderate Evidence).
01 Feb 2019	Inherited polyposis v0.42	MSH3	Ivone Leong Classified gene: MSH3 as Amber List (moderate evidence)
01 Feb 2019	Inherited polyposis v0.42	MSH3	Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber as cases in this gene is rare.
01 Feb 2019	Inherited polyposis v0.42	MSH3	Ivone Leong Gene: msh3 has been classified as Amber List (Moderate Evidence).
31 Jan 2019	Inherited polyposis v0.41	GREM1	Ivone Leong Classified gene: GREM1 as Amber List (moderate evidence)
31 Jan 2019	Inherited polyposis v0.41	GREM1	Ivone Leong Gene: grem1 has been classified as Amber List (Moderate Evidence).
31 Jan 2019	Inherited polyposis v0.40	POLE	Ivone Leong Classified gene: POLE as Green List (high evidence)
31 Jan 2019	Inherited polyposis v0.40	POLE	Ivone Leong Gene: pole has been classified as Green List (High Evidence).
31 Jan 2019	Inherited polyposis v0.39	POLD1	Ivone Leong Classified gene: POLD1 as Green List (high evidence)
31 Jan 2019	Inherited polyposis v0.39	POLD1	Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
31 Jan 2019	Inherited polyposis v0.38	POLD1	Ivone Leong Classified gene: POLD1 as Green List (high evidence)
31 Jan 2019	Inherited polyposis v0.38	POLD1	Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
31 Jan 2019	Inherited polyposis v0.37	NTHL1	Ivone Leong Classified gene: NTHL1 as Amber List (moderate evidence)
31 Jan 2019	Inherited polyposis v0.37	NTHL1	Ivone Leong Gene: nthl1 has been classified as Amber List (Moderate Evidence).
30 Jan 2019	Inherited polyposis v0.35	POLE	Ivone Leong Mode of inheritance for gene: POLE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.34	POLD1	Ivone Leong Mode of inheritance for gene: POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.33	NTHL1	Ivone Leong Mode of inheritance for gene: NTHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
30 Jan 2019	Inherited polyposis v0.32	STK11	Ivone Leong Mode of inheritance for gene: STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.31	SMAD4	Ivone Leong Mode of inheritance for gene: SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.30	RNF43	Ivone Leong Mode of inheritance for gene: RNF43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.29	PTEN	Ivone Leong Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.28	PMS2	Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.27	MUTYH	Ivone Leong Mode of inheritance for gene: MUTYH was changed from to BIALLELIC, autosomal or pseudoautosomal
30 Jan 2019	Inherited polyposis v0.26	MSH6	Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.25	MSH3	Ivone Leong Mode of inheritance for gene: MSH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.24	MSH2	Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.23	MLH1	Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.22	GREM1	Ivone Leong Mode of inheritance for gene: GREM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.21	EPCAM	Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.20	BMPR1A	Ivone Leong Mode of inheritance for gene: BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.19	APC	Ivone Leong Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019	Inherited polyposis v0.17	STK11	Ivone Leong Classified gene: STK11 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.17	STK11	Ivone Leong Gene: stk11 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.16	SMAD4	Ivone Leong Classified gene: SMAD4 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.16	SMAD4	Ivone Leong Gene: smad4 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.15	RNF43	Ivone Leong Classified gene: RNF43 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.15	RNF43	Ivone Leong Gene: rnf43 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.14	PTEN	Ivone Leong Classified gene: PTEN as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.14	PTEN	Ivone Leong Gene: pten has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.13	PMS2	Ivone Leong Classified gene: PMS2 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.13	PMS2	Ivone Leong Gene: pms2 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.12	MUTYH	Ivone Leong Classified gene: MUTYH as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.12	MUTYH	Ivone Leong Gene: mutyh has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.11	MSH6	Ivone Leong Classified gene: MSH6 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.11	MSH6	Ivone Leong Gene: msh6 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.10	MSH3	Ivone Leong Classified gene: MSH3 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.10	MSH3	Ivone Leong Gene: msh3 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.9	MSH2	Ivone Leong Classified gene: MSH2 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.9	MSH2	Ivone Leong Gene: msh2 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.8	MLH1	Ivone Leong Classified gene: MLH1 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.8	MLH1	Ivone Leong Gene: mlh1 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.7	GREM1	Ivone Leong Classified gene: GREM1 as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.7	GREM1	Ivone Leong Gene: grem1 has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.6	EPCAM	Ivone Leong Classified gene: EPCAM as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.6	EPCAM	Ivone Leong Gene: epcam has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.5	BMPR1A	Ivone Leong Classified gene: BMPR1A as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.5	BMPR1A	Ivone Leong Gene: bmpr1a has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.4	APC	Ivone Leong Classified gene: APC as Green List (high evidence)
30 Jan 2019	Inherited polyposis v0.4	APC	Ivone Leong Gene: apc has been classified as Green List (High Evidence).
30 Jan 2019	Inherited polyposis v0.3	RNF43	Rachel Robinson reviewed gene: RNF43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	STK11	Rachel Robinson reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	SMAD4	Rachel Robinson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	PTEN	Rachel Robinson reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	PMS2	Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	POLD1	Rachel Robinson reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	POLE	Rachel Robinson reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	NTHL1	Rachel Robinson reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	MUTYH	Rachel Robinson reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	MSH3	Rachel Robinson reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476653; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	MSH6	Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	MSH2	Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	MLH1	Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	GREM1	Rachel Robinson reviewed gene: GREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	EPCAM	Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	BMPR1A	Rachel Robinson reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	APC	Rachel Robinson reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
30 Jan 2019	Inherited polyposis v0.3	POLD1	Lara Hawkes reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	NTHL1	Lara Hawkes reviewed gene: NTHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Jan 2019	Inherited polyposis v0.3	POLE	Lara Hawkes reviewed gene: POLE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	STK11	Lara Hawkes reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	SMAD4	Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	PTEN	Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	PMS2	Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	MUTYH	Lara Hawkes reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Jan 2019	Inherited polyposis v0.3	MSH6	Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	MSH2	Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	MLH1	Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	BMPR1A	Lara Hawkes reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.3	APC	Lara Hawkes reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2019	Inherited polyposis v0.2	RNF43	Ivone Leong gene: RNF43 was added gene: RNF43 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: RNF43 was set to
30 Jan 2019	Inherited polyposis v0.2	MSH3	Ivone Leong gene: MSH3 was added gene: MSH3 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: MSH3 was set to
30 Jan 2019	Inherited polyposis v0.2	GREM1	Ivone Leong gene: GREM1 was added gene: GREM1 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: GREM1 was set to
30 Jan 2019	Inherited polyposis v0.2	EPCAM	Ivone Leong gene: EPCAM was added gene: EPCAM was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: EPCAM was set to
30 Jan 2019	Inherited polyposis v0.2	POLD1	Ivone Leong gene: POLD1 was added gene: POLD1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: POLD1 was set to
30 Jan 2019	Inherited polyposis v0.2	NTHL1	Ivone Leong gene: NTHL1 was added gene: NTHL1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: NTHL1 was set to
30 Jan 2019	Inherited polyposis v0.2	POLE	Ivone Leong gene: POLE was added gene: POLE was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: POLE was set to
30 Jan 2019	Inherited polyposis v0.2	STK11	Ivone Leong gene: STK11 was added gene: STK11 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: STK11 was set to
30 Jan 2019	Inherited polyposis v0.2	SMAD4	Ivone Leong gene: SMAD4 was added gene: SMAD4 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: SMAD4 was set to
30 Jan 2019	Inherited polyposis v0.2	PTEN	Ivone Leong gene: PTEN was added gene: PTEN was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: PTEN was set to
30 Jan 2019	Inherited polyposis v0.2	PMS2	Ivone Leong gene: PMS2 was added gene: PMS2 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: PMS2 was set to
30 Jan 2019	Inherited polyposis v0.2	MUTYH	Ivone Leong gene: MUTYH was added gene: MUTYH was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MUTYH was set to
30 Jan 2019	Inherited polyposis v0.2	MSH6	Ivone Leong gene: MSH6 was added gene: MSH6 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH6 was set to
30 Jan 2019	Inherited polyposis v0.2	MSH2	Ivone Leong gene: MSH2 was added gene: MSH2 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH2 was set to
30 Jan 2019	Inherited polyposis v0.2	MLH1	Ivone Leong gene: MLH1 was added gene: MLH1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MLH1 was set to
30 Jan 2019	Inherited polyposis v0.2	BMPR1A	Ivone Leong gene: BMPR1A was added gene: BMPR1A was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: BMPR1A was set to
30 Jan 2019	Inherited polyposis v0.2	APC	Ivone Leong gene: APC was added gene: APC was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: APC was set to
16 Nov 2018	Inherited polyposis v0.0		Ellen McDonagh Added Panel Inherited polyposis Set panel types to: GMS Rare Disease