Panels

Panel	Evaluated genes	Reviewers	Actions
Filter panels 305 panels
Adult onset movement disorder Version 0.87	213 of 213 100% STRs: 11 Regions: 1	5 reviewers	Download
Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Carcinoma of unknown primary, Other, Adult solid tumours pertinent cancer susceptibility Version 1.3	58 of 58 100%	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 1.21	58 of 59 98% Regions: 1	5 reviewers	Download
Albinism or congenital nystagmus Version 0.17	9 of 40 22%	2 reviewers	Download
Amelogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Amelogenesis Imperfecta Version 1.12	39 of 39 100%	7 reviewers	Download
Amyloidosis Version 0.4	0 of 10 0%	0 reviewers	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 1.26	34 of 34 100% STRs: 4	9 reviewers	Download
Aniridia Version 1.7	6 of 7 86% Regions: 1	3 reviewers	Download
Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Relevant disorders: Anophthalmia or microphthamia, Anophthalmia/microphthamia, Anophthalmia/microphthalmia Version 1.17	58 of 58 100%	9 reviewers	Download
Arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Arrhythmogenic Right Ventricular Cardiomyopathy, Arrythmogenic cardiomyopathy Version 1.23	17 of 18 94%	6 reviewers	Download
Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Arthrogrythsis Version 2.41	229 of 246 93%	10 reviewers	Download
Arthrogryposis - broad panel Relevant disorders: Arthrogryposis Version 2.6	236 of 497 47% STRs: 2 Regions: 5	12 reviewers	Download
Ataxia and cerebellar anomalies - narrow panel Version 1.0	17 of 212 8% STRs: 13 Regions: 3	2 reviewers	Download
Atypical haemolytic uraemic syndrome Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 1.7	13 of 13 100%	5 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 1.8	5 of 5 100%	4 reviewers	Download
Autism Version 0.14	733 of 733 100%	1 reviewer	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
Autosomal recessive primary hypertrophic osteoarthropathy Version 0.9	3 of 3 100%	1 reviewer	Download
Bardet Biedl syndrome Version 0.19	24 of 24 100%	11 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 1.44	19 of 21 90% Regions: 1	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
Bleeding and platelet disorders Version 0.52	110 of 110 100%	5 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
Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.52	29 of 30 97% STRs: 5 Regions: 1	5 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
Brugada syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.39	23 of 23 100%	9 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 1.34	65 of 66 98% Regions: 1	9 reviewers	Download
Cardiac arrhythmias Relevant disorders: Cardiac arrythmias Version 1.0	3 of 43 7%	1 reviewer	Download
Cardiomyopathies - including childhood onset Relevant disorders: Paediatric or syndromic cardiomyopathy Version 1.24	134 of 1080 12% STRs: 2 Regions: 2	6 reviewers	Download
Cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.26	157 of 157 100%	9 reviewers	Download
Catecholaminergic polymorphic VT Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia Version 1.14	10 of 10 100%	6 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 1.34	64 of 65 98%	9 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
Cerebral malformations Relevant disorders: Cerebral malformation Version 2.7	412 of 616 67% STRs: 13 Regions: 6	41 reviewers	Download
Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease Version 1.36	95 of 95 100%	5 reviewers	Download
Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Childhood;Childhood solid tumours pertinent cancer susceptibility Version 1.3	71 of 83 86%	3 reviewers	Download
Choanal atresia Level 3: Choanal anomalies Level 2: Skeletal disorders Relevant disorders: Version 1.12	12 of 12 100%	4 reviewers	Download
Cholestasis Version 0.22	39 of 39 100%	12 reviewers	Download
Chondrodysplasia punctata Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Version 1.2	5 of 5 100%	3 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
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 1.34	237 of 257 92% Regions: 5	11 reviewers	Download
ClinGen Gene Validity Curations Version 0.63	47 of 47 100%	3 reviewers	Download
ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.10	53 of 53 100%	1 reviewer	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
Combined factor V and VIII deficiency Version 0.19	2 of 2 100%	4 reviewers	Download
Common craniosynostosis syndromes Version 0.12	7 of 7 100%	1 reviewer	Download
Confirmed Fanconi anaemia or Bloom syndrome Version 0.20	22 of 22 100%	4 reviewers	Download
Congenital adrenal hypoplasia Level 3: Adrenal disorders Level 2: Endocrine disorders Version 1.7	20 of 20 100%	7 reviewers	Download
Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Relevant disorders: Congential disorders of glycosylation Version 1.24	100 of 100 100%	7 reviewers	Download
Congenital fibrosis of the extraocular muscles Version 0.8	5 of 6 83%	1 reviewer	Download
Congenital hyperinsulinism Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Hyperinsulinism Version 1.39	19 of 19 100%	7 reviewers	Download
Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Relevant disorders: Congenital hypothyroidism or thyroid agenesis Version 1.18	31 of 33 94% Regions: 2	6 reviewers	Download
Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.47	54 of 54 100% STRs: 1	7 reviewers	Download
Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Congenital myaesthenia, Congenital myasthenia Version 1.47	35 of 35 100%	4 reviewers	Download
Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.149	101 of 104 97% STRs: 2 Regions: 3	8 reviewers	Download
Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Corneal abnormalities, Corneal dystrophy Version 1.7	42 of 42 100%	5 reviewers	Download
Corneal dystrophies Version 0.3	0 of 21 0%	0 reviewers	Download
Craniosynostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis Version 1.80	114 of 114 100% Regions: 2	7 reviewers	Download
Currarino triad Relevant disorders: Version 1.1	11 of 11 100%	3 reviewers	Download
Cutaneous photosensitivity with a likely genetic cause Version 0.7	2 of 2 100%	2 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 1.44	61 of 64 95% Regions: 2	7 reviewers	Download
Cystic renal disease Relevant disorders: Cystic renal disease - PKD1 Version 1.15	259 of 266 97% Regions: 4	22 reviewers	Download
Cytopenia - Fanconi breakage testing indicated Version 0.1	0 of 0 0%	0 reviewers	Download
Cytopenia - NOT Fanconi anaemia Version 0.53	84 of 84 100%	5 reviewers	Download
Cytopenias 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, Cytopaenias and congenital anaemias, Cytopenia and pancytopenia Version 1.69	217 of 217 100%	11 reviewers	Download
DDG2P Version 1.44	1851 of 1851 100%	4 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 1.16	56 of 57 98% Regions: 3	8 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 1.24	33 of 34 97% Regions: 1	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 1.57	64 of 65 98% Regions: 1	7 reviewers	Download
Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Dilated Cardiomyopathy, Dilated Cardiomyopathy (DCM), Dilated cardiomyopathy - teen and adult Version 1.55	84 of 84 100%	12 reviewers	Download
Dilated cardiomyopathy - adult and teen Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 0.33	23 of 23 100%	5 reviewers	Download
Disorders of sex development Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.34	54 of 54 100% Regions: 1	8 reviewers	Download
Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.10	29 of 29 100% STRs: 2	2 reviewers	Download
Ductal plate malformation Relevant disorders: Ductal plate malformation (DPM), Polycystic liver disease Version 1.9	54 of 150 36%	3 reviewers	Download
Dystonia - childhood onset Version 1.5	10 of 184 5% STRs: 7 Regions: 1	4 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 1.46	40 of 40 100% STRs: 9	7 reviewers	Download
Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.78	66 of 114 58% STRs: 4	15 reviewers	Download
Ectodermal dysplasia Version 0.10	61 of 61 100%	8 reviewers	Download
Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Relevant disorders: Version 1.17	29 of 29 100%	5 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, Ehlers-Danlos syndromes Version 1.50	75 of 75 100%	13 reviewers	Download
End-stage renal disease - childhood onset Level 3: Disorders of function Level 2: Renal and urinary tract disorders Relevant disorders: Unexplained kidney failure in young people, Familial IgA nephropathy and IgA vasculitis Version 1.63	82 of 169 49% Regions: 3	6 reviewers	Download
Endocrine neoplasms Version 0.4	5 of 5 100%	5 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
Epidermodysplasia verruciformis Version 0.5	3 of 3 100%	1 reviewer	Download
Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Relevant disorders: Version 1.6	21 of 21 100%	4 reviewers	Download
Epidermolysis bullosa and congenital skin fragility Version 0.11	34 of 34 100%	6 reviewers	Download
Epilepsy - early onset or syndromic Relevant disorders: Early onset or syndromic epilepsy Version 2.100	602 of 1463 41% STRs: 4 Regions: 14	26 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
Extreme early-onset hypertension Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.10	25 of 25 100%	4 reviewers	Download
Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.5	62 of 62 100%	5 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
Familial Neural Tube Defects Relevant disorders: Version 1.5	4 of 44 9%	3 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
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
Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.6	16 of 16 100%	5 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
Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Familial young-onset non-insulin-dependent diabetes Version 1.36	55 of 57 96% Regions: 1	7 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
Familial dysautonomia Version 1.5	22 of 22 100%	5 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
Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia Version 1.21	43 of 43 100%	7 reviewers	Download
Familial hyperparathyroidism Version 1.0	10 of 10 100%	3 reviewers	Download
Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Relevant disorders: Familial or syndromic hypoparathyroidism Version 1.10	9 of 9 100%	4 reviewers	Download
Familial melanoma Version 0.22	8 of 8 100%	5 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 1.43	48 of 55 87% Regions: 8	11 reviewers	Download
Familial prostate cancer Relevant disorders: Version 1.1	14 of 14 100%	2 reviewers	Download
Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.5	71 of 71 100%	6 reviewers	Download
Familial rhabdomyosarcoma Level 3: Muscle and nerve Level 2: Tumour syndromes Relevant disorders: Familial rhabdomyosarcoma or sarcoma, Familial rhabdoid tumours Version 1.4	18 of 18 100%	2 reviewers	Download
Familial tumoral calcinosis Version 0.11	4 of 4 100%	2 reviewers	Download
Fetal anomalies Version 0.250	1709 of 1709 100%	5 reviewers	Download
Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.16	68 of 68 100% STRs: 1	7 reviewers	Download
GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 Version 0.4	8 of 915 1%	1 reviewer	Download
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Version 0.4	0 of 63 0%	0 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
Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Relevant disorders: Neonatal and familial gastrointestinal neuromuscular disorders, Infantile pseudo-obstruction, Early onset or familial intestinal pseudo obstruction Version 1.10	27 of 27 100% STRs: 1	6 reviewers	Download
Gene therapy clinical trials Level 3: Clinical trials Level 2: Actionable information Version 0.6	21 of 21 100%	1 reviewer	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
Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus Version 1.51	575 of 591 97% STRs: 2 Regions: 13	22 reviewers	Download
Genodermatoses with malignancies Level 3: Skin Level 2: Tumour syndromes Relevant disorders: Version 1.4	9 of 12 75%	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
Glycogen storage disease Version 0.3	0 of 28 0%	0 reviewers	Download
Growth failure in early childhood Version 0.17	24 of 119 20% Regions: 5	2 reviewers	Download
Haematological malignancies cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Haemonc;Haematological malignancies pertinent cancer susceptibility Version 1.17	93 of 93 100%	3 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
Haematuria Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Relevant disorders: Alport syndrome, Familial haematuria Version 1.21	8 of 8 100%	6 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
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 1.107	358 of 358 100%	12 reviewers	Download
Hereditary Erythrocytosis Relevant disorders: Version 1.1	12 of 13 92%	3 reviewers	Download
Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.200	174 of 177 98% STRs: 14 Regions: 3	12 reviewers	Download
Hereditary ataxia - adult onset Relevant disorders: Hereditary ataxia with onset in adulthood Version 1.155	245 of 251 98% STRs: 13 Regions: 4	3 reviewers	Download
Hereditary ataxia and cerebellar anomalies - childhood onset Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies Version 3.22	242 of 1286 19% STRs: 15 Regions: 6	21 reviewers	Download
Hereditary haemorrhagic telangiectasia Level 3: Vascular lung disorders Level 2: Respiratory disorders Relevant disorders: Familial and multiple pulmonary arteriovenous malformations Version 1.41	14 of 14 100%	6 reviewers	Download
Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Charcot-Marie-Tooth disease Version 1.81	223 of 223 100% STRs: 7 Regions: 2	15 reviewers	Download
Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.203	118 of 119 99% STRs: 10	15 reviewers	Download
Hereditary spastic paraplegia - adult onset Version 0.146	106 of 106 100% STRs: 10	5 reviewers	Download
Hereditary spastic paraplegia - childhood onset Relevant disorders: Childhood onset hereditary spastic paraplegia Version 1.164	107 of 107 100% STRs: 10	6 reviewers	Download
Holoprosencephaly Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly - NOT chromosomal Version 1.13	17 of 17 100%	5 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
Hydrocephalus Relevant disorders: Hydrocephalus Version 1.28	97 of 97 100%	6 reviewers	Download
Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Relevant disorders: Version 1.8	106 of 106 100%	6 reviewers	Download
Hyperthyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Relevant disorders: Resistance to thyroid hormone Version 1.6	5 of 5 100%	2 reviewers	Download
Hypertrophic cardiomyopathy - teen and adult Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Hypertrophic Cardiomyopathy, HCM Version 1.53	71 of 71 100% STRs: 1	11 reviewers	Download
Hypocalciuric hypercalcaemia Version 1.0	3 of 3 100%	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 1.25	46 of 46 100%	10 reviewers	Download
Hypogonadotropic hypogonadism idiopathic Version 0.27	32 of 32 100%	2 reviewers	Download
Hypophosphataemia or rickets Version 1.0	14 of 14 100%	3 reviewers	Download
Hypotonic infant with a likely central cause Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant Version 3.313	2164 of 3398 64% STRs: 15 Regions: 63	44 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
Ichthyosis and erythrokeratoderma Version 0.6	56 of 57 98% Regions: 1	8 reviewers	Download
Idiopathic ventricular fibrillation Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.0	5 of 5 100%	2 reviewers	Download
Inborn errors of metabolism Relevant disorders: Likely inborn error of metabolism - targeted testing not possible Version 1.54	27 of 872 3% STRs: 2 Regions: 1	4 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
Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Relevant disorders: Version 1.2	18 of 18 100%	5 reviewers	Download
Inherited MMR deficiency (Lynch syndrome) Version 0.9	5 of 5 100%	3 reviewers	Download
Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Relevant disorders: Inherited platelet disorders, Monogenic thrombophilia, Inherited bleeding and or platelet disorders, Unprovoked Thrombosis before 40, Monogenic venous thrombosis Version 1.153	112 of 118 95%	7 reviewers	Download
Inherited colorectal cancer (with or without polyposis) Level 3: GI tract Level 2: Tumour syndromes Relevant disorders: GI tract tumours, Familial colon cancer, Multiple bowel polyps, Peutz-Jeghers syndrome, GI tract Version 1.11	30 of 30 100%	9 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
Inherited ovarian cancer (without breast cancer) Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Familial ovarian cancer Version 1.7	9 of 26 35%	5 reviewers	Download
Inherited pancreatic cancer Version 0.28	11 of 11 100%	5 reviewers	Download
Inherited phaeochromocytoma and paraganglioma Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Neuro-endocrine Tumours- PCC and PGL Version 1.5	20 of 20 100%	5 reviewers	Download
Inherited phaeochromocytoma and paraganglioma excluding NF1 Version 0.5	12 of 12 100%	5 reviewers	Download
Inherited polyposis Version 0.47	17 of 17 100%	10 reviewers	Download
Inherited predisposition to GIST Version 0.20	7 of 7 100%	4 reviewers	Download
Inherited predisposition to acute myeloid leukaemia (AML) Version 0.45	14 of 14 100%	5 reviewers	Download
Inherited renal cancer Version 0.37	16 of 16 100%	5 reviewers	Download
Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Leukodystrophy - adult onset Version 1.64	163 of 166 98%	9 reviewers	Download
Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Relevant disorders: Insulin resistance (including lipodystrophy Version 1.9	26 of 26 100%	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, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing Version 2.846	2130 of 2275 94% STRs: 11 Regions: 57	38 reviewers	Download
Intestinal failure Version 0.29	11 of 11 100%	6 reviewers	Download
Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.15	26 of 26 100%	8 reviewers	Download
Iron metabolism disorders Version 0.34	26 of 26 100%	5 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
Kabuki syndrome Level 3: Kabuki Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.2	4 of 4 100%	4 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
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
Laterality disorders and isomerism Version 0.39	56 of 56 100%	2 reviewers	Download
Leber hereditary optic neuropathy Version 0.1	0 of 0 0%	0 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
Limb disorders Version 1.5	215 of 217 99%	12 reviewers	Download
Limb girdle muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.87	84 of 84 100%	10 reviewers	Download
Lipodystrophy - childhood onset Version 1.2	12 of 12 100%	7 reviewers	Download
Lipoprotein lipase deficiency Version 0.1	0 of 0 0%	0 reviewers	Download
Long QT syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Relevant disorders: Long QT Version 1.26	20 of 20 100%	8 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 of 0 0%	0 reviewers	Download
Lysosomal storage disorder Version 0.3	51 of 51 100%	3 reviewers	Download
Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 1.167	73 of 74 99% Regions: 1	9 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
Membranoproliferative glomerulonephritis Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis Version 1.5	9 of 9 100%	5 reviewers	Download
Mitochondrial DNA maintenance disorder Version 0.8	27 of 27 100%	8 reviewers	Download
Mitochondrial disorder with complex I deficiency Version 0.65	51 of 51 100%	6 reviewers	Download
Mitochondrial disorder with complex II deficiency Version 0.16	8 of 8 100%	5 reviewers	Download
Mitochondrial disorder with complex III deficiency Version 0.25	15 of 15 100%	5 reviewers	Download
Mitochondrial disorder with complex IV deficiency Version 0.40	40 of 40 100%	7 reviewers	Download
Mitochondrial disorder with complex V deficiency Version 0.25	19 of 19 100%	5 reviewers	Download
Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features Version 1.292	365 of 368 99% STRs: 2 Regions: 1	13 reviewers	Download
Mitochondrial liver disease Version 0.5	11 of 11 100%	6 reviewers	Download
Molecular autopsy Version 0.91	143 of 1042 14% STRs: 2 Regions: 2	5 reviewers	Download
Monogenic diabetes Version 1.7	74 of 78 95% Regions: 1	7 reviewers	Download
Monogenic nephrogenic diabetes insipidus Relevant disorders: monogenic nephrogenic diabetes insipidus Version 1.8	5 of 5 100%	3 reviewers	Download
Mosaic skin disorders - deep sequencing Version 0.9	38 of 38 100%	1 reviewer	Download
Movement disorders - childhood onset Version 4.27	252 of 1470 17% STRs: 22 Regions: 7	25 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
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
Multiple Epiphyseal Dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Version 1.2	11 of 11 100%	4 reviewers	Download
Multiple endocrine tumours Level 3: Breast and endocrine Level 2: Tumour syndromes Relevant disorders: Multiple endocrine tumours, Multiple endocrine neoplasia type 1, Endocrine neoplasia Version 1.9	16 of 16 100%	6 reviewers	Download
Multiple lipomas Relevant disorders: Version 1.1	4 of 4 100%	1 reviewer	Download
Multiple monogenic benign skin tumours Version 0.8	43 of 43 100%	2 reviewers	Download
Myotonia congenita Version 0.7	0 of 7 0%	0 reviewers	Download
Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.3	90 of 91 99% Regions: 1	11 reviewers	Download
Neonatal erythroderma Version 0.2	0 of 0 0%	0 reviewers	Download
Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Version 1.17	37 of 42 88%	6 reviewers	Download
Neurodegenerative disorders - adult onset Version 1.45	314 of 400 78% STRs: 16 Regions: 4	4 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
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
Neuromuscular arthrogryposis Version 0.16	19 of 40 48%	2 reviewers	Download
Neuromuscular disorders Relevant disorders: Other rare neuromuscular disorders Version 1.1	7 of 251 3% STRs: 2 Regions: 5	2 reviewers	Download
Neuronal ceroid lipofuscinosis Version 0.4	14 of 14 100%	1 reviewer	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
Non-CF bronchiectasis Level 3: Respiratory ciliopathies Level 2: Ciliopathies Relevant disorders: Version 1.3	17 of 17 100%	2 reviewers	Download
Non-acute porphyrias Version 0.11	9 of 9 100%	8 reviewers	Download
Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.2	51 of 51 100%	2 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
Ocular and oculo-cutaneous albinism Relevant disorders: Version 1.20	15 of 15 100%	8 reviewers	Download
Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Relevant disorders: Version 1.32	64 of 65 98% Regions: 2	9 reviewers	Download
Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Inherited optic neuropathies Version 1.113	47 of 47 100%	7 reviewers	Download
Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Osteogenesis Imperfecta Version 1.35	184 of 184 100%	12 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
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
Paediatric disorders Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing Version 3.306	5022 of 6134 82% STRs: 14 Regions: 74	103 reviewers	Download
Paediatric disorders - additional genes Version 0.6	0 of 0 0%	0 reviewers	Download
Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.20	41 of 46 89% STRs: 2 Regions: 5	6 reviewers	Download
Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Relevant disorders: neuropathic pain, Pain channelopathies Version 1.4	25 of 25 100%	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
Palmoplantar keratodermas Version 0.5	68 of 68 100%	1 reviewer	Download
Pancreatitis Version 1.10	16 of 16 100%	6 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
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 1.64	66 of 66 100% STRs: 9	10 reviewers	Download
Paroxysmal neurological disorders, pain disorders and sleep disorders Version 0.18	7 of 80 9% STRs: 5 Regions: 1	1 reviewer	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
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
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
Pigmentary skin disorders Version 0.8	94 of 94 100%	2 reviewers	Download
Pituitary hormone deficiency Version 1.0	41 of 50 82%	2 reviewers	Download
Pityriasis rubra pilaris Relevant disorders: Version 1.1	1 of 1 100%	1 reviewer	Download
Pneumothorax - familial Level 3: Structural lung disorders Level 2: Respiratory disorders Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax Version 1.15	35 of 35 100%	6 reviewers	Download
Polycystic liver disease interim Version 0.5	19 of 19 100%	2 reviewers	Download
Possible mitochondrial disorder - nuclear genes Version 0.187	374 of 374 100%	11 reviewers	Download
Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Relevant disorders: Primary ciliary dyskinesia Version 1.17	140 of 140 100%	10 reviewers	Download
Primary immunodeficiency Relevant disorders: Primary immunodeficiency 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 1.39	389 of 391 99% Regions: 2	19 reviewers	Download
Primary lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease Version 1.35	22 of 22 100%	5 reviewers	Download
Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Relevant disorders: Early onset familial premature ovarian insufficiency, Early onset familial premature ovarian failure Version 1.15	57 of 57 100% STRs: 1	7 reviewers	Download
Primary pigmented nodular adrenocortical disease Version 0.9	4 of 4 100%	2 reviewers	Download
Progressive cardiac conduction disease Version 0.18	9 of 15 60%	4 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
Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 1.85	95 of 95 100%	9 reviewers	Download
Pulmonary arterial hypertension Level 3: Pulmonary heart disease Level 2: Cardiovascular disorders Relevant disorders: PAH Version 1.46	18 of 18 100%	5 reviewers	Download
Pyruvate dehydrogenase (PDH) deficiency Version 0.5	26 of 26 100%	5 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
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
Rare anaemia Version 0.35	94 of 94 100%	5 reviewers	Download
Rare genetic inflammatory skin disorders Version 0.10	31 of 31 100%	2 reviewers	Download
Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Relevant disorders: Joubert syndrome, Bardet-Biedl Syndrome Version 1.84	198 of 202 98% Regions: 2	15 reviewers	Download
Refuted genes Relevant disorders: Version 0.12	4 of 4 100%	2 reviewers	Download
Renal and urinary tract disorders Version 1.9	155 of 180 86% Regions: 3	16 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
Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Relevant disorders: Renal tubular acidosis Version 1.22	55 of 55 100%	8 reviewers	Download
Respiratory ciliopathies including non-CF bronchiectasis Version 0.148	61 of 61 100%	9 reviewers	Download
Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Relevant disorders: Posterior segment abnormalities, 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 1.139	240 of 315 76%	17 reviewers	Download
Rhabdoid tumour predisposition Version 0.7	2 of 2 100%	2 reviewers	Download
Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.25	55 of 55 100%	5 reviewers	Download
Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Relevant disorders: Sarcoma;Sarcoma pertinent cancer susceptibility Version 1.13	33 of 33 100%	8 reviewers	Download
Segmental overgrowth disorders Relevant disorders: Regional overgrowth disorders Version 1.7	10 of 14 71%	4 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 1.7	35 of 42 83% Regions: 3	5 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
Severe hypertriglyceridaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Relevant disorders: Version 1.8	7 of 7 100%	3 reviewers	Download
Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly Version 1.48	117 of 121 97% Regions: 5	9 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
Short QT syndrome Version 1.10	38 of 40 95%	7 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
Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.11	22 of 22 100% STRs: 2	6 reviewers	Download
Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia Version 1.162	444 of 553 80% STRs: 1 Regions: 6	10 reviewers	Download
Stickler syndrome Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.32	10 of 10 100%	5 reviewers	Download
Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Version 1.12	76 of 76 100% STRs: 1	7 reviewers	Download
Structural eye disease Version 0.75	455 of 456 100% Regions: 2	5 reviewers	Download
Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Relevant disorders: Unexplained sudden death in the young Version 1.11	34 of 35 97%	7 reviewers	Download
Surfactant deficiency Version 0.10	8 of 8 100%	2 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 of 0 0%	0 reviewers	Download
Thoracic aortic aneurysm and dissection Version 0.4	62 of 62 100%	15 reviewers	Download
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 1.92	63 of 63 100%	17 reviewers	Download
Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Version 1.7	134 of 134 100% STRs: 1	7 reviewers	Download
Thrombophilia Version 0.34	20 of 20 100%	4 reviewers	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
Tubulointerstitial kidney disease Version 0.11	25 of 25 100%	3 reviewers	Download
Tumour predisposition - adult onset Version 1.0	0 of 65 0% Regions: 2	0 reviewers	Download
Tumour predisposition - childhood onset Level 3: Childhood Tumours Level 2: Tumour syndromes Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndrome, Paediatric congenital malformation-dysmorphism-tumour syndromes, Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome Version 1.23	51 of 98 52% Regions: 1	9 reviewers	Download
Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Relevant disorders: Undiagnosed Metabolic Panel Version 1.105	413 of 736 56% STRs: 1 Regions: 1	12 reviewers	Download
Unexplained paediatric onset end-stage renal disease Version 0.13	180 of 180 100% Regions: 3	16 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
VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.23	58 of 58 100%	7 reviewers	Download
Vascular skin disorders Version 0.9	28 of 28 100%	1 reviewer	Download
Vici Syndrome and other autophagy disorders Level 3: Autophagy disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Version 1.2	12 of 12 100%	4 reviewers	Download
White matter disorders - adult onset Version 0.2	0 of 0 0%	0 reviewers	Download
White matter disorders - childhood onset Relevant disorders: Childhood onset leukodystrophy Version 3.522	2522 of 3706 68% STRs: 15 Regions: 59	55 reviewers	Download
White matter disorders and cerebral calcification - narrow panel Version 1.5	0 of 191 0%	0 reviewers	Download
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders Version 1.7	17 of 17 100%	6 reviewers	Download

305 panels