Panels

Panel	Evaluated genes	Reviewers	Actions
Filter panels 223 panels
Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Relevant disorders: Familial retinal arteriolar tortuosity;FTAAD;Familial Thoracic Aortic Aneurysm Disease Version 1.76	57 of 57 100%	10 reviewers	Download
Stickler syndrome Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Version 1.23	8 of 8 100%	4 reviewers	Download
Currarino triad Relevant disorders: Version 1.1	11 of 11 100%	3 reviewers	Download
Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia Version 1.20	43 of 43 100%	6 reviewers	Download
Familial dysautonomia Relevant disorders: Version 1.4	22 of 22 100%	5 reviewers	Download
Refuted genes Relevant disorders: Version 0.11	4 of 4 100%	2 reviewers	Download
Disorders of sex development Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.25	51 of 52 98% Regions: 1	5 reviewers	Download
Familial Neural Tube Defects Relevant disorders: Version 1.5	4 of 44 9%	3 reviewers	Download
Brugada syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Relevant disorders: Version 1.7	23 of 23 100%	3 reviewers	Download
Prostate cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Prostate Version 1.0	5 of 5 100%	2 reviewers	Download
monogenic nephrogenic diabetes insipidus Relevant disorders: Monogenic nephrogenic diabetes insipidus Version 1.5	5 of 5 100%	3 reviewers	Download
Multiple lipomas Relevant disorders: Version 1.1	4 of 4 100%	1 reviewer	Download
Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.122	172 of 175 98% STRs: 12 Regions: 3	12 reviewers	Download
Familial hidradenitis suppurativa Level 3: Skin adnexa disorders Level 2: Dermatological disorders Relevant disorders: Version 1.1	11 of 11 100%	2 reviewers	Download
Peeling skin syndrome Level 3: Skin fragility disorders Level 2: Dermatological disorders Relevant disorders: Version 1.2	13 of 13 100%	3 reviewers	Download
Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Relevant disorders: Congential disorders of glycosylation Version 1.19	99 of 99 100%	6 reviewers	Download
Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Version 1.55	64 of 65 98% Regions: 1	7 reviewers	Download
Chondrodysplasia punctata Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Version 1.2	5 of 5 100%	3 reviewers	Download
Congenital hypothyroidism or thyroid agenesis Level 3: Thyroid disorders Level 2: Endocrine disorders Relevant disorders: Congenital hypothyroidism Version 1.2	27 of 29 93% Regions: 2	2 reviewers	Download
Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Relevant disorders: Version 1.58	64 of 82 78%	8 reviewers	Download
Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Relevant disorders: Anophthalmia or microphthamia, Anophthalmia/microphthamia, Anophthalmia/microphthalmia Version 1.15	56 of 56 100%	6 reviewers	Download
Multiple endocrine neoplasia type 1 Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Multiple endocrine tumours Version 1.6	16 of 16 100%	6 reviewers	Download
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 2: Growth disorders Relevant disorders: Atypical Beckwith-Wiedemann syndrome, Classical Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Weaver syndrome Version 1.42	18 of 20 90% Regions: 1	5 reviewers	Download
Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Complex Parkinsonism (includes pallido-pyramidal syndromes), Early onset and familial Parkinson's Disease Version 1.45	63 of 63 100% STRs: 6	10 reviewers	Download
Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.22	162 of 165 98%	8 reviewers	Download
Neonatal or paediatric intensive care admission with a likely monogenic cause Level 3: Multi-system groups Level 2: Ultra-rare disorders Relevant disorders: Neonatal or paediatric intensive care admission with a likely monogenic disease Version 0.4	1 of 1 100%	1 reviewer	Download
Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Relevant disorders: Unexplained sudden death in the young Version 1.10	34 of 35 97%	7 reviewers	Download
Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Dilated Cardiomyopathy, Dilated Cardiomyopathy (DCM) Version 1.34	81 of 81 100%	8 reviewers	Download
RASopathies Level 3: RASopathies Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Legius syndrome, Noonan syndrome, Noonan syndrome plus other features Version 1.27	19 of 20 95% Regions: 1	6 reviewers	Download
Hypertrophic Cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: HCM Version 1.21	68 of 68 100% STRs: 1	8 reviewers	Download
Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Relevant disorders: Version 1.3	15 of 15 100%	4 reviewers	Download
Ehlers-Danlos syndromes Level 3: Connective tissues disorders Level 2: Rheumatological disorders Relevant disorders: Classical Ehlers Danlos Syndrome, Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense), Ehlers-Danlos syndrome type 3, Kyphoscoliotic Ehlers-Danlos syndrome, EDS Version 1.33	74 of 74 100%	10 reviewers	Download
Breast cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Breast Version 1.0	5 of 5 100%	2 reviewers	Download
Haematological malignancies pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Haemonc Version 1.2	89 of 89 100%	3 reviewers	Download
Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Relevant disorders: Periodic fever syndromes and amyloidosis Version 1.10	30 of 30 100%	5 reviewers	Download
Neonatal and familial gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Relevant disorders: Infantile pseudo-obstruction, Early onset or familial intestinal pseudo obstruction Version 1.7	27 of 27 100% STRs: 1	6 reviewers	Download
Severe multi-system atopic disease with high IgE Level 3: Atopy Level 2: Dermatological disorders Relevant disorders: Version 1.7	5 of 8 62%	3 reviewers	Download
Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.5	62 of 62 100%	5 reviewers	Download
ClinGen Gene Validity Curations Version 0.63	47 of 47 100%	3 reviewers	Download
Lymphatic Disorders Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Relevant disorders: Meiges disease;Meige disease;Milroy disease;Lymphoedema distichiasis;Lipoedema disease;Primary lymphoedema Version 1.31	22 of 22 100%	5 reviewers	Download
Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.21	55 of 55 100%	4 reviewers	Download
Epileptic encephalopathy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.143	183 of 183 100%	19 reviewers	Download
Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Relevant disorders: Version 1.2	18 of 18 100%	3 reviewers	Download
Long QT syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Relevant disorders: Version 1.5	20 of 20 100%	5 reviewers	Download
Cockayne and Xeroderma Pigmentosum-like disorders Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders Version 1.5	17 of 17 100%	6 reviewers	Download
Holoprosencephaly Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Rhombencephalosynapsis Version 1.5	16 of 16 100%	4 reviewers	Download
Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.14	41 of 46 89% STRs: 2 Regions: 5	5 reviewers	Download
Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting Version 1.32	236 of 257 92% Regions: 5	11 reviewers	Download
Testicular cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Testicular Germ Cell Tumours Version 1.0	0 0%	0 reviewers	Download
Primary Membranoproliferative Glomerulonephritis Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Relevant disorders: PMG, MPGN Version 1.1	9 of 9 100%	3 reviewers	Download
Charcot-Marie-Tooth disease Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.25	204 of 206 99% Regions: 2	11 reviewers	Download
Parathyroid Cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Parathyroid cancer Version 1.3	7 of 7 100%	3 reviewers	Download
Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Version 1.7	42 of 42 100%	2 reviewers	Download
Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.31	25 of 26 96% STRs: 2 Regions: 1	3 reviewers	Download
Erythropoietic protoporphyria, mild variant Level 3: Sun-exposure related conditions Level 2: Dermatological disorders Relevant disorders: Version 1.2	2 of 2 100%	2 reviewers	Download
Hypogonadotropic hypogonadism Level 3: Hypothalamic and pituitary disorders Level 2: Endocrine disorders Relevant disorders: Kallmann syndrome, Kallmann syndrom, Idiopathic hypogonadotropic hypogonadism Version 1.15	43 of 43 100%	7 reviewers	Download
PHACE(S) syndrome Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.1	6 of 6 100%	1 reviewer	Download
Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.160	72 of 73 99% Regions: 1	9 reviewers	Download
Inherited phaeochromocytoma and paraganglioma Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Neuro-endocrine Tumours- PCC and PGL Version 1.3	20 of 20 100%	4 reviewers	Download
Regional overgrowth disorders Relevant disorders: Version 1.3	10 of 14 71%	4 reviewers	Download
Familial haematuria Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Relevant disorders: Alport syndrome Version 1.14	8 of 8 100%	4 reviewers	Download
VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.22	58 of 58 100%	7 reviewers	Download
Familial Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Relevant disorders: Familial Primary Spontaneous Pneumothorax Version 1.6	20 of 20 100%	4 reviewers	Download
Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Relevant disorders: Version 1.11	50 of 50 100%	8 reviewers	Download
Cerebral folate deficiency Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Relevant disorders: Version 1.2	4 of 4 100%	3 reviewers	Download
Familial disseminated superficial actinic porokeratosis Level 3: Keratodermas Level 2: Dermatological disorders Relevant disorders: Version 1.1	7 of 7 100%	3 reviewers	Download
Monogenic viral susceptibility Relevant disorders: Version 0.8	4 of 6 67%	1 reviewer	Download
Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features Version 1.69	358 of 361 99% Regions: 1	10 reviewers	Download
Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Relevant disorders: Other peroxisomal disorders, Peroxisomal biogenesis disorders Version 1.6	37 of 37 100%	4 reviewers	Download
Head and neck cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Nasopharyngeal, Oral Oropharyngeal, Sinonasal Version 1.0	12 of 12 100%	4 reviewers	Download
Ovarian cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Ovarian Version 1.0	8 of 8 100%	2 reviewers	Download
Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Relevant disorders: Version 1.3	21 of 21 100%	4 reviewers	Download
Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Version 1.2	133 of 133 100% STRs: 1	7 reviewers	Download
Hereditary haemorrhagic telangiectasia Level 3: Vascular lung disorders Level 2: Respiratory disorders Relevant disorders: Familial and multiple pulmonary arteriovenous malformations Version 1.29	13 of 13 100%	4 reviewers	Download
Hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Relevant disorders: Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe) Version 1.49	356 of 356 100%	8 reviewers	Download
Ocular and oculo-cutaneous albinism Relevant disorders: Version 1.20	15 of 15 100%	8 reviewers	Download
Severe early-onset obesity Level 3: Obesity syndromes Level 2: Endocrine disorders Relevant disorders: Significant early-onset obesity with or without other endocrine features and short stature, Significant early-onset obesity +/- other endocrine features and short stature Version 1.6	35 of 42 83% Regions: 3	5 reviewers	Download
IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Relevant disorders: Version 1.25	107 of 114 94% Regions: 5	10 reviewers	Download
Generalised pustular psoriasis Level 3: Autoimmune skin disorders Level 2: Dermatological disorders Relevant disorders: Version 1.8	12 of 12 100%	4 reviewers	Download
Melanoma pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Malignant Melanoma Version 1.0	3 of 3 100%	2 reviewers	Download
Arrhythmogenic Right Ventricular Cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Version 1.4	15 of 15 100%	4 reviewers	Download
Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Relevant disorders: Version 1.15	28 of 28 100%	5 reviewers	Download
Atypical haemolytic uraemic syndrome Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Relevant disorders: Version 1.3	10 of 10 100%	4 reviewers	Download
Familial ovarian cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Version 1.1	9 of 26 35%	3 reviewers	Download
Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.15	68 of 68 100% STRs: 1	7 reviewers	Download
Congenital adrenal hypoplasia Level 3: Adrenal disorders Level 2: Endocrine disorders Version 1.6	20 of 20 100%	5 reviewers	Download
Cerebrovascular disorders Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Vein of Galen malformation, Cerebral vascular malformations, Cerebral arteriovenous malformations, Moyamoya disease Version 1.34	93 of 93 100%	4 reviewers	Download
Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Level 3: Disorders of function Level 2: Renal and urinary tract disorders Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis) Version 1.14	37 of 42 88%	6 reviewers	Download
Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Relevant disorders: Joubert syndrome, Bardet-Biedl Syndrome Version 1.77	198 of 202 98% Regions: 2	15 reviewers	Download
Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Familial young-onset non-insulin-dependent diabetes Version 1.13	48 of 49 98% Regions: 1	4 reviewers	Download
Renal cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Renal Version 1.0	10 of 10 100%	2 reviewers	Download
Early onset familial premature ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Relevant disorders: Early onset familial premature ovarian failure Version 1.12	57 of 57 100% STRs: 1	7 reviewers	Download
Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Relevant disorders: Familial IgA nephropathy and IgA vasculitis Version 1.19	82 of 169 49% Regions: 3	5 reviewers	Download
Hereditary Erythrocytosis Relevant disorders: Version 1.1	12 of 13 92%	3 reviewers	Download
Familial breast cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Familial breast and or ovarian cancer Version 1.13	26 of 26 100%	5 reviewers	Download
Cytopaenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Relevant disorders: Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria, Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria, Congenital anaemias, Early onset pancytopenia and red cell disorders, Anaemias and red cell disorders Version 1.65	217 of 217 100%	11 reviewers	Download
Genetic Epilepsies with Febrile Seizures Plus (GEFS+) Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Genetic Epilepsies with Febrile Seizures Plus Version 1.9	6 of 6 100%	3 reviewers	Download
Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum Version 1.38	114 of 118 97% Regions: 4	9 reviewers	Download
Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.67	86 of 91 95%	13 reviewers	Download
Brain cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Adult Glioma Version 1.0	7 of 7 100%	2 reviewers	Download
Familial Tumours Syndromes of the central & peripheral Nervous system Level 3: Muscle and nerve Level 2: Tumour syndromes Relevant disorders: Familial tumour syndromes of the central & peripheral nervous system, Familial tumour syndromes of the central and peripheral nervous system Version 1.8	14 of 22 64% Regions: 1	2 reviewers	Download
Craniosynostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Relevant disorders: Craniosynostosis syndromes;Craniosynostosis syndromes phenotypes Version 1.41	64 of 65 98% Regions: 1	5 reviewers	Download
Inherited non-medullary thyroid cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Version 1.4	30 of 30 100%	4 reviewers	Download
Kabuki syndrome Level 3: Kabuki Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.2	4 of 4 100%	4 reviewers	Download
Insulin resistance (including lipodystrophy Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Insulin resistance (including lipodystrophy), Insulin resistance (including lipodystrophy Version 1.3	24 of 24 100%	4 reviewers	Download
Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Relevant disorders: Inherited platelet disorders, Monogenic thrombophilia, Bleeding and platelet disorders, Inherited bleeding and or platelet disorders, Unprovoked Thrombosis before 40, Monogenic venous thrombosis Version 1.145	109 of 115 95%	6 reviewers	Download
Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Relevant disorders: Infantile enterocolitis and monogenic inflammatory bowel disease Version 1.16	62 of 62 100%	7 reviewers	Download
Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Relevant disorders: Primary ciliary dyskinesia Version 1.14	138 of 138 100%	7 reviewers	Download
Hydrocephalus Version 1.23	97 of 97 100%	6 reviewers	Download
Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.8	76 of 76 100% STRs: 1	7 reviewers	Download
Single autosomal recessive mutation in rare disease Level 3: Multi-system groups Level 2: Ultra-rare disorders Relevant disorders: Version 0.2	0 0%	0 reviewers	Download
Neuroendocrine cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: phaeochromocytoma, paraganglioma, carcinoid, Neuroendocrine Version 1.0	12 of 12 100%	2 reviewers	Download
Limb girdle muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.11	44 of 44 100%	5 reviewers	Download
Inherited optic neuropathies Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Version 1.22	23 of 23 100%	5 reviewers	Download
Non-syndromic hypotrichosis Level 3: Skin adnexa disorders Level 2: Dermatological disorders Relevant disorders: Version 1.1	11 of 11 100%	2 reviewers	Download
Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.49	59 of 110 54%	12 reviewers	Download
Pulmonary arterial hypertension Level 3: Pulmonary heart disease Level 2: Cardiovascular disorders Relevant disorders: PAH Version 1.36	17 of 17 100%	4 reviewers	Download
Osteogenesis Imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Osteogenesis imperfecta Version 1.12	181 of 181 100%	9 reviewers	Download
Classical tuberous sclerosis Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.2	2 of 2 100%	2 reviewers	Download
Silver Russell syndrome Level 3: Growth restriction Level 2: Growth disorders Relevant disorders: Silver-Russell syndrome Version 1.3	5 of 7 71%	3 reviewers	Download
Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Relevant disorders: Version 1.3	71 of 71 100%	6 reviewers	Download
Genodermatoses with malignancies Level 3: Skin Level 2: Tumour syndromes Relevant disorders: Version 1.4	9 of 12 75%	3 reviewers	Download
Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.15	47 of 47 100%	6 reviewers	Download
Bladder cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Bladder Version 1.0	0 of 4 0%	0 reviewers	Download
Ductal plate malformation (DPM) Version 0.32	47 of 148 32%	1 reviewer	Download
ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.10	53 of 53 100%	1 reviewer	Download
Multiple Epiphyseal Dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Version 1.2	11 of 11 100%	4 reviewers	Download
Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Relevant disorders: Fallots tetralogy, Hypoplastic Left Heart Syndrome, Left Ventricular Outflow Tract obstruction disorders, Pulmonary atresia, Transposition of the great vessels, Familial non-syndromic congenital heart disease, Familial congenital heart disease, Congenital heart disease, Syndromic congenital heart disease, Isomerism and laterality disorders Version 1.33	47 of 54 87% Regions: 7	9 reviewers	Download
Kleine-Levin syndrome Level 3: Sleep disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Kleine-Levin syndrome and other inherited sleep disorders Version 1.3	12 of 12 100%	3 reviewers	Download
Catecholaminergic Polymorphic Ventricular Tachycardia Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Relevant disorders: Version 1.2	9 of 9 100%	3 reviewers	Download
Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Relevant disorders: Version 1.15	45 of 45 100%	6 reviewers	Download
Sarcoma pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Sarcoma Version 1.0	7 of 7 100%	3 reviewers	Download
Lung cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Lung Version 1.0	0 0%	0 reviewers	Download
Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.3	14 of 14 100%	2 reviewers	Download
Fetal structural CNS abnormalities Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 0.4	1 of 1 100%	1 reviewer	Download
Choanal atresia Level 3: Choanal anomalies Level 2: Skeletal disorders Relevant disorders: Version 1.12	12 of 12 100%	4 reviewers	Download
Vici Syndrome and other autophagy disorders Level 3: Autophagy disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.1	12 of 12 100%	4 reviewers	Download
Short QT syndrome Relevant disorders: Version 0.1	12 of 12 100%	2 reviewers	Download
Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.60	93 of 96 97% STRs: 1 Regions: 3	6 reviewers	Download
Severe hypertriglyceridaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Relevant disorders: Version 1.8	7 of 7 100%	3 reviewers	Download
Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.9	22 of 22 100% STRs: 2	5 reviewers	Download
Cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Version 1.20	157 of 157 100%	8 reviewers	Download
Congenital myaesthenia Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Congenital myasthenia Version 1.9	29 of 29 100%	2 reviewers	Download
CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Relevant disorders: Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT) Version 1.27	65 of 66 98% Regions: 1	9 reviewers	Download
Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.6	28 of 28 100% STRs: 1	2 reviewers	Download
Hyperthyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Relevant disorders: Resistance to thyroid hormone Version 1.5	5 of 5 100%	2 reviewers	Download
Left Ventricular Noncompaction Cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Version 1.2	16 of 16 100%	2 reviewers	Download
Juvenile dermatomyositis Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Relevant disorders: Version 1.2	0 of 5 0%	0 reviewers	Download
Familial Genetic Generalised Epilepsies Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.23	16 of 25 64%	5 reviewers	Download
Paediatric congenital malformation-dysmorphism-tumour syndromes Level 3: Childhood Tumours Level 2: Tumour syndromes Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndromes , Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome Version 1.19	50 of 66 76% Regions: 1	8 reviewers	Download
Colorectal cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Colorectal Version 1.0	13 of 13 100%	3 reviewers	Download
Adult solid tumours pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Carcinoma of unknown primary, Other Version 1.0	54 of 54 100%	2 reviewers	Download
Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Relevant disorders: Version 1.2	18 of 18 100%	5 reviewers	Download
Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.6	59 of 59 100%	8 reviewers	Download
Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Relevant disorders: Version 1.2	44 of 44 100%	3 reviewers	Download
Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Version 1.4	22 of 224 10%	5 reviewers	Download
Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Version 1.4	42 of 42 100%	5 reviewers	Download
Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Relevant disorders: Bilateral microtia, Ear malformations with hearing impairment, Ear malformations, Familial hemifacial microsomia Version 1.10	54 of 55 98% Regions: 1	8 reviewers	Download
Familial Focal Epilepsies Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.10	9 of 10 90%	4 reviewers	Download
Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.0	51 of 51 100%	2 reviewers	Download
GI tract tumours Level 3: GI tract Level 2: Tumour syndromes Relevant disorders: Familial colon cancer, Multiple bowel polyps, Peutz-Jeghers syndrome, GI tract Version 1.6	29 of 29 100%	7 reviewers	Download
Neurofibromatosis Type 1 Level 3: Muscle and nerve Level 2: Tumour syndromes Relevant disorders: Version 1.25	30 of 31 97% Regions: 1	8 reviewers	Download
Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Arthrogrythsis Version 2.29	227 of 244 93%	9 reviewers	Download
Childhood solid tumours pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Childhood Version 1.0	71 of 71 100%	3 reviewers	Download
Auditory Neuropathy Spectrum Disorder Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Relevant disorders: Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy Spectrum Disorde Version 1.5	5 of 5 100%	3 reviewers	Download
Severe familial anorexia Level 3: Disorders of extremely low weight , severe familial anorexia Level 2: Metabolic disorders Relevant disorders: Version 1.2	1 of 1 100%	1 reviewer	Download
Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Amyotrophic lateral sclerosis or motor neuron disease Version 1.20	33 of 33 100% STRs: 3	8 reviewers	Download
Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.22	34 of 34 100% STRs: 3	7 reviewers	Download
Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Relevant disorders: Version 1.8	106 of 106 100%	6 reviewers	Download
Amelogenesis Imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.5	38 of 38 100%	6 reviewers	Download
Endometrial cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Endometrial Carcinoma Version 1.0	6 of 6 100%	2 reviewers	Download
Upper gastrointestinal cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Hepatopancreatobiliary, Upper Gastrointestinal Version 1.0	4 of 4 100%	2 reviewers	Download
Idiopathic ventricular fibrillation Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.0	5 of 5 100%	2 reviewers	Download
Autosomal recessive congenital ichthyosis Level 3: Ichthyoses Level 2: Dermatological disorders Relevant disorders: Version 1.7	14 of 15 93% Regions: 1	3 reviewers	Download
Cystic kidney disease Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Relevant disorders: Cystic kidney disease Version 1.29	59 of 62 95% Regions: 2	5 reviewers	Download
Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID;Moderate, severe or profound intellectual disability Version 2.532	2040 of 2191 93% STRs: 11 Regions: 52	34 reviewers	Download
Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Cerebellar Hypoplasia, Pontine tegmental cap dysplasia Version 1.23	61 of 62 98%	8 reviewers	Download
Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Relevant disorders: neuropathic pain;Pain channelopathies Version 1.2	24 of 24 100%	3 reviewers	Download
Familial rhabdomyosarcoma Level 3: Muscle and nerve Level 2: Tumour syndromes Relevant disorders: Familial rhabdomyosarcoma or sarcoma Version 1.0	18 of 18 100%	2 reviewers	Download
Renal tubular acidosis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Relevant disorders: Version 1.8	17 of 18 94%	6 reviewers	Download
Diabetes - neonatal onset Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Neonatal diabetes (diagnosed less than 6 months);Neonatal diabetes;Neonatal diabetes diagnosed <6 months Version 1.8	29 of 30 97% Regions: 1	4 reviewers	Download
Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Relevant disorders: Version 1.19	62 of 63 98% Regions: 1	8 reviewers	Download
Non-CF bronchiectasis Level 3: Respiratory ciliopathies Level 2: Ciliopathies Relevant disorders: Version 1.3	17 of 17 100%	2 reviewers	Download
Unexplained monogenic fetal disorders Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 0.3	0 0%	0 reviewers	Download
Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Relevant disorders: Undiagnosed Metabolic Panel Version 1.78	409 of 735 56% STRs: 1 Regions: 1	10 reviewers	Download
Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Relevant disorders: Version 1.1	25 of 25 100%	3 reviewers	Download
Posterior segment abnormalities Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy Version 1.86	234 of 313 75%	16 reviewers	Download
Congenital hyperinsulinism Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Hyperinsulinism Version 1.3	11 of 11 100%	4 reviewers	Download
Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Unexplained skeletal dysplasia Version 1.128	411 of 529 78% STRs: 1 Regions: 5	9 reviewers	Download
Hydroa vacciniforme Level 3: Sun-exposure related conditions Level 2: Dermatological disorders Relevant disorders: Version 1.2	3 of 3 100%	1 reviewer	Download
Pityriasis rubra pilaris Relevant disorders: Version 1.1	1 of 1 100%	1 reviewer	Download
Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Relevant disorders: Familial or syndromic hypoparathyroidism Version 1.7	8 of 8 100%	3 reviewers	Download
Extreme early-onset hypertension Level 3: Disorders of function Level 2: Renal and urinary tract disorders Relevant disorders: Version 1.8	25 of 25 100%	4 reviewers	Download
Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.10	25 of 25 100%	6 reviewers	Download
Familial prostate cancer Relevant disorders: Version 1.1	14 of 14 100%	2 reviewers	Download
Limb disorders Version 0.275	150 of 216 69%	10 reviewers	Download
Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Relevant disorders: Cholestasis Version 1.2	90 of 91 99% Regions: 1	11 reviewers	Download
Pancreatitis Version 0.20	5 of 14 36%	2 reviewers	Download
Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Relevant disorders: Young adult onset cancer, Exceptionally young adult onset cancer, Multiple Tumours, Rare tumour predisposition syndromes Version 1.20	57 of 58 98% Regions: 1	4 reviewers	Download
Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.1	14 of 130 11%	4 reviewers	Download
Primary immunodeficiency disorders Relevant disorders: A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency, SCID, Primary immune disorder, Primary immunodeficiency, A-gammaglobulinaemia, Agammaglobulinaemia, hypo-gammaglobulinaemia, hypogammaglobulinemia, immune deficiency syndromes, Severe combined immunodeficiency, Congenital neutopenia, Familial haemophagocytic lymphohistiocytic disorders, Familial hemophagocytic lymphohistiocytic disorders, PID, Sepsis, Disseminated non-tuberculous mycobacterial infection Version 1.27	389 of 391 99% Regions: 2	18 reviewers	Download
Genetic Epilepsy Syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Epilepsy Plus;Epilepsy plus other features Version 0.823	524 of 541 97% Regions: 13	19 reviewers	Download
Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.0	89 of 89 100%	3 reviewers	Download
Gene therapy clinical trials Level 3: Clinical trials Level 2: Actionable information Version 0.6	21 of 21 100%	1 reviewer	Download
Thyroid cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Endocrine Version 1.0	2 of 5 40%	1 reviewer	Download
Neuromuscular disorders Version 0.1	0 0%	0 reviewers	Download
Hereditary ataxia - adult onset Version 0.0	0 0%		Download
Inborn errors of metabolism Version 0.0	0 0%		Download
Cardiac arrythmias Version 0.0	0 0%		Download
Cardiomyopathies - including childhood onset Version 0.0	0 0%		Download
Tumour predisposition - adult onset Version 0.0	0 0%		Download
Molecular autopsy Version 0.0	0 0%		Download
Monogenic diabetes Version 0.0	0 0%		Download
Growth failure in early childhood Version 0.0	0 0%		Download
Neurodegenerative disorders - adult onset Version 0.0	0 0%		Download
Dystonia - childhood onset Version 0.0	0 0%		Download
White matter disorders and cerebral calcification - narrow panel Version 0.0	0 0%		Download
Ataxia and cerebellar anomalies - narrow panel Version 0.0	0 0%		Download
Familial hyperparathyroidism Version 0.0	0 0%		Download
Hypocalciuric hypercalcaemia Version 0.0	0 0%		Download
Hypophosphataemia or rickets Version 0.0	0 0%		Download
Pituitary hormone deficiency Version 0.0	0 0%		Download
Skin disorders Version 0.0	0 0%		Download

223 panels