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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 Genomic imprinting 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 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 Osteopetrosis 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 Thrombocythaemia 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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31 Aug 2021	Familial cicatricial alopecia v1.3	GJA1	Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, 104100 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100
26 Feb 2021	Familial cicatricial alopecia v1.2	GJA1	Arina Puzriakova Tag curated_removed tag was added to gene: GJA1.
26 Feb 2021	Familial cicatricial alopecia v1.2	FOXN1	Arina Puzriakova Tag curated_removed tag was added to gene: FOXN1.
17 Aug 2017	Familial cicatricial alopecia	SDR9C7	Sarah Leigh commented on SDR9C7
17 Aug 2017	Familial cicatricial alopecia	SDR9C7	Sarah Leigh reviewed SDR9C7
20 Jul 2017	Familial cicatricial alopecia		Rebecca Foulger promoted panel to version 1
13 Jul 2017	Familial cicatricial alopecia	PPARG	Rebecca Foulger classified PPARG as red
13 Jul 2017	Familial cicatricial alopecia	PPARG	Rebecca Foulger commented on PPARG
13 Jul 2017	Familial cicatricial alopecia	CLDN1	Rebecca Foulger classified CLDN1 as red
13 Jul 2017	Familial cicatricial alopecia	CLDN1	Rebecca Foulger commented on CLDN1
13 Jul 2017	Familial cicatricial alopecia	GJB2	Rebecca Foulger classified GJB2 as red
13 Jul 2017	Familial cicatricial alopecia	GJB2	Rebecca Foulger commented on GJB2
13 Jul 2017	Familial cicatricial alopecia	TGM1	Rebecca Foulger commented on TGM1
13 Jul 2017	Familial cicatricial alopecia	TGM1	Rebecca Foulger classified TGM1 as red
13 Jul 2017	Familial cicatricial alopecia	ST14	Rebecca Foulger classified ST14 as red
13 Jul 2017	Familial cicatricial alopecia	ST14	Rebecca Foulger commented on ST14
13 Jul 2017	Familial cicatricial alopecia	PNPLA1	Rebecca Foulger classified PNPLA1 as red
13 Jul 2017	Familial cicatricial alopecia	PNPLA1	Rebecca Foulger commented on PNPLA1
13 Jul 2017	Familial cicatricial alopecia	PLEC	Rebecca Foulger classified PLEC as red
13 Jul 2017	Familial cicatricial alopecia	NIPAL4	Rebecca Foulger classified NIPAL4 as red
13 Jul 2017	Familial cicatricial alopecia	NIPAL4	Rebecca Foulger commented on NIPAL4
13 Jul 2017	Familial cicatricial alopecia	LIPN	Rebecca Foulger classified LIPN as red
13 Jul 2017	Familial cicatricial alopecia	LIPN	Rebecca Foulger commented on LIPN
13 Jul 2017	Familial cicatricial alopecia	ITGB4	Rebecca Foulger classified ITGB4 as red
13 Jul 2017	Familial cicatricial alopecia	ITGA6	Rebecca Foulger classified ITGA6 as red
13 Jul 2017	Familial cicatricial alopecia	CYP4F22	Rebecca Foulger classified CYP4F22 as red
13 Jul 2017	Familial cicatricial alopecia	CYP4F22	Rebecca Foulger commented on CYP4F22
13 Jul 2017	Familial cicatricial alopecia	CERS3	Rebecca Foulger classified CERS3 as red
13 Jul 2017	Familial cicatricial alopecia	CERS3	Rebecca Foulger commented on CERS3
13 Jul 2017	Familial cicatricial alopecia	ALOXE3	Rebecca Foulger classified ALOXE3 as red
13 Jul 2017	Familial cicatricial alopecia	ALOXE3	Rebecca Foulger commented on ALOXE3
13 Jul 2017	Familial cicatricial alopecia	ALOX12B	Rebecca Foulger classified ALOX12B as red
13 Jul 2017	Familial cicatricial alopecia	ALOX12B	Rebecca Foulger commented on ALOX12B
13 Jul 2017	Familial cicatricial alopecia	ABCA12	Rebecca Foulger commented on ABCA12
13 Jul 2017	Familial cicatricial alopecia	ABCA12	Rebecca Foulger classified ABCA12 as red
13 Jul 2017	Familial cicatricial alopecia	HLA-DRA	Rebecca Foulger classified HLA-DRA as amber
13 Jul 2017	Familial cicatricial alopecia	TSPYL2	Rebecca Foulger marked TSPYL2 as ready
13 Jul 2017	Familial cicatricial alopecia	TSPYL2	Rebecca Foulger commented on TSPYL2
13 Jul 2017	Familial cicatricial alopecia	C5	Rebecca Foulger marked C5 as ready
13 Jul 2017	Familial cicatricial alopecia	C5	Rebecca Foulger classified C5 as red
13 Jul 2017	Familial cicatricial alopecia	C2	Rebecca Foulger marked C2 as ready
13 Jul 2017	Familial cicatricial alopecia	C2	Rebecca Foulger classified C2 as red
13 Jul 2017	Familial cicatricial alopecia	CYBB	Rebecca Foulger marked CYBB as ready
13 Jul 2017	Familial cicatricial alopecia	CYBB	Rebecca Foulger classified CYBB as red
13 Jul 2017	Familial cicatricial alopecia	CYBB	Rebecca Foulger commented on CYBB
11 Jul 2017	Familial cicatricial alopecia	GJA1	Rebecca Foulger classified GJA1 as grey
11 Jul 2017	Familial cicatricial alopecia	GJA1	Rebecca Foulger commented on GJA1
10 Jul 2017	Familial cicatricial alopecia	FOXN1	Rebecca Foulger classified FOXN1 as grey
03 Jul 2017	Familial cicatricial alopecia	SDR9C7	Rebecca Foulger marked SDR9C7 as ready
03 Jul 2017	Familial cicatricial alopecia	MBTPS2	Rebecca Foulger marked MBTPS2 as ready
03 Jul 2017	Familial cicatricial alopecia	FOXN1	Rebecca Foulger classified FOXN1 as red
03 Jul 2017	Familial cicatricial alopecia	FOXN1	Rebecca Foulger commented on FOXN1
03 Jul 2017	Familial cicatricial alopecia	MBTPS2	Rebecca Foulger classified MBTPS2 as green
03 Jul 2017	Familial cicatricial alopecia	MBTPS2	Rebecca Foulger commented on MBTPS2
03 Jul 2017	Familial cicatricial alopecia	MBTPS2	Rebecca Foulger commented on MBTPS2
03 Jul 2017	Familial cicatricial alopecia	MBTPS2	Rebecca Foulger commented on MBTPS2
03 Jul 2017	Familial cicatricial alopecia	MBTPS2	Rebecca Foulger commented on MBTPS2
22 Jun 2017	Familial cicatricial alopecia	SDR9C7	Rebecca Foulger classified SDR9C7 as amber
22 Jun 2017	Familial cicatricial alopecia	SDR9C7	Rebecca Foulger commented on SDR9C7
22 Jun 2017	Familial cicatricial alopecia	SDR9C7	John McGrath reviewed SDR9C7
22 Jun 2017	Familial cicatricial alopecia	MBTPS2	John McGrath reviewed MBTPS2
22 Jun 2017	Familial cicatricial alopecia	HLA-DRA	John McGrath reviewed HLA-DRA
22 Nov 2016	Familial cicatricial alopecia	HLA-DRA	Rebecca Foulger commented on HLA-DRA
22 Nov 2016	Familial cicatricial alopecia	C5	Rebecca Foulger commented on C5
22 Nov 2016	Familial cicatricial alopecia	C2	Rebecca Foulger commented on C2
22 Nov 2016	Familial cicatricial alopecia	PLEC	Rebecca Foulger commented on PLEC
22 Nov 2016	Familial cicatricial alopecia	ITGA6	Rebecca Foulger commented on ITGA6
22 Nov 2016	Familial cicatricial alopecia	ITGB4	Rebecca Foulger commented on ITGB4