325 panels

Additional findings health related

Version 0.110

Panel Types: Additional Findings,

Additional findings health related - adults

Version 2.0

Panel Types: Additional Findings, Super Panel,

Additional findings health related - adult specific

Version 1.0

Panel Types: Additional Findings, Component Of Super Panel,

Additional findings health related - children

Version 1.0

Panel Types: Additional Findings, Component Of Super Panel,

Additional findings health related - CNV analysis adults

Version 2.0

Panel Types: Additional Findings, Super Panel,

Additional findings health related - CNV analysis adult specific

Version 1.0

Panel Types: Additional Findings, Component Of Super Panel,

Additional findings health related - CNV analysis children

Version 1.0

Panel Types: Additional Findings, Component Of Super Panel,

Additional findings reproductive carrier status

Version 1.0

Panel Types: Additional Findings,

Adult onset movement disorder

Relevant disorders: R56
Version 1.113

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

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 2.9

Panel Types: GMS signed-off, Cancer Germline 100K, GMS Cancer Germline Virtual,

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 1.22

Panel Types: Rare Disease 100K,

Albinism or congenital nystagmus

Relevant disorders: R39
Version 1.17

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Amelogenesis Imperfecta, R340
Version 2.8

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Amyloidosis

Relevant disorders: R204
Version 1.8

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

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 1.29

Panel Types: Rare Disease 100K,

Aniridia

Relevant disorders: R38
Version 2.14

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders: Anophthalmia or microphthamia, Anophthalmia/microphthamia, Anophthalmia/microphthalmia
Version 1.38

Panel Types: Rare Disease 100K,

Arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Arrhythmogenic Right Ventricular Cardiomyopathy, Arrythmogenic cardiomyopathy, R133
Version 2.13

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Arthrogrythsis, R83
Version 3.98

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

Ataxia and cerebellar anomalies - narrow panel

Version 2.174

Panel Types: GMS signed-off, GMS Rare Disease, Component Of Super Panel,

Atypical haemolytic uraemic syndrome

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: R201
Version 2.8

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

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

Panel Types: Rare Disease 100K,

Autism

Version 0.22

Panel Types: Research,

Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders

Relevant disorders:
Version 1.10

Panel Types: Rare Disease 100K,

Autosomal recessive primary hypertrophic osteoarthropathy

Relevant disorders: R167
Version 1.9

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Bardet Biedl syndrome

Relevant disorders: R107
Version 1.11

Panel Types: GMS Rare Disease, GMS signed-off,

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 1.114

Panel Types: Rare Disease 100K,

Bladder cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Bladder
Version 1.1

Panel Types: Cancer Germline 100K,

Bleeding and platelet disorders

Relevant disorders: R90
Version 1.26

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Brain cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Adult Glioma
Version 1.0

Panel Types: Cancer Germline 100K,

Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.59

Panel Types: Rare Disease 100K,

Breast cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Breast
Version 1.0

Panel Types: Cancer Germline 100K,

Brugada syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: R128
Version 2.33

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

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 1.162

Panel Types: Rare Disease 100K,

Cardiac arrhythmias

Relevant disorders: Cardiac arrythmias
Version 6.97

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Cardiac arrhythmias - additional genes

Version 1.11

Panel Types: GMS signed-off, Component Of Super Panel,

Cardiomyopathies - including childhood onset

Relevant disorders: Paediatric or syndromic cardiomyopathy, R135
Version 1.39

Panel Types: GMS signed-off, GMS Rare Disease, GMS Rare Disease Virtual,

Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: R31
Version 2.74

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Catecholaminergic polymorphic VT

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129
Version 2.18

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Cerebellar hypoplasia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Cerebellar Hypoplasia, Pontine tegmental cap dysplasia
Version 1.43

Panel Types: Rare Disease 100K,

Cerebral folate deficiency

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Cerebral malformations

Relevant disorders: Cerebral malformation, R87
Version 5.78

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

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, R336
Version 2.51

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

CHARGE syndrome

Version 0.11

Childhood onset dystonia or chorea or related movement disorder

Relevant disorders: R57
Version 1.103

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

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 1.14

Panel Types: Cancer Germline 100K,

Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders

Relevant disorders:
Version 1.15

Panel Types: Rare Disease 100K,

Cholestasis

Relevant disorders: R171
Version 1.84

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

Classical tuberous sclerosis

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

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 2.28

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Version 0.10

Panel Types: ClinGen Curated genes,

ClinGen Gene Validity Curations

Version 0.64

Panel Types: ClinGen Curated genes,

Colorectal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Colorectal
Version 1.0

Panel Types: Cancer Germline 100K,

Combined factor V and VIII deficiency

Relevant disorders: R124
Version 1.6

Panel Types: GMS Rare Disease, GMS signed-off,

Common craniosynostosis syndromes

Relevant disorders: R99
Version 1.13

Panel Types: GMS Rare Disease, GMS signed-off,

Confirmed Fanconi anaemia or Bloom syndrome

Relevant disorders: R229, R258
Version 1.11

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders

Relevant disorders: R150
Version 2.6

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Congential disorders of glycosylation
Version 2.70

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Congenital fibrosis of the extraocular muscles

Relevant disorders: R46
Version 1.11

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders: Hyperinsulinism, R144
Version 2.5

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145
Version 2.4

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: R79
Version 2.8

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80
Version 2.36

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: R81
Version 2.28

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Corneal abnormalities, Corneal dystrophy
Version 1.7

Panel Types: Rare Disease 100K,

Corneal dystrophies

Relevant disorders: R262
Version 1.6

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

COVID-19 research

Level 2: Viral research

Relevant disorders: Viral susceptibility
Version 1.77

Panel Types: Research,

Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders

Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, R100
Version 2.23

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Currarino triad

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Cutaneous photosensitivity with a likely genetic cause

Relevant disorders: R237
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders

Relevant disorders: Cystic kidney disease
Version 2.26

Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off,

Cystic renal disease

Relevant disorders: Cystic renal disease - PKD1, R193
Version 3.83

Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off,

Cytopenia - NOT Fanconi anaemia

Relevant disorders: R91
Version 1.37

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

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 1.84

Panel Types: Rare Disease 100K,

DDG2P

Version 2.27

Panel Types: GMS Rare Disease, GMS signed-off, Component Of Super Panel,

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 1.17

Panel Types: Rare Disease 100K,

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, R143
Version 2.33

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders:
Version 1.62

Panel Types: Rare Disease 100K,

Dilated cardiomyopathy - adult and teen

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: R132
Version 1.24

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease, Component Of Super Panel,

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 1.68

Panel Types: Rare Disease 100K,

Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders

Relevant disorders: R146
Version 2.47

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29

Panel Types: GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Ductal plate malformation

Relevant disorders: Ductal plate malformation (DPM), Polycystic liver disease
Version 1.16

Panel Types: Rare Disease 100K,

Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.48

Panel Types: Rare Disease 100K,

Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.86

Panel Types: Rare Disease 100K,

Ectodermal dysplasia

Relevant disorders: R163
Version 1.19

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders

Relevant disorders:
Version 1.21

Panel Types: Rare Disease 100K,

Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders

Relevant disorders: Classical Ehlers Danlos Syndrome, 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, R101
Version 2.57

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Endocrine neoplasms

Relevant disorders: R217
Version 1.22

Panel Types: GMS Rare Disease, GMS signed-off,

Endometrial cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Endometrial Carcinoma
Version 1.0

Panel Types: Cancer Germline 100K,

Epidermodysplasia verruciformis

Relevant disorders: R255
Version 1.4

Panel Types: GMS signed-off, GMS Rare Disease Virtual, GMS Rare Disease,

Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

Epidermolysis bullosa and congenital skin fragility

Relevant disorders: R164
Version 1.48

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Erythropoietic protoporphyria, mild variant

Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

Panel Types: Rare Disease 100K,

Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial breast and or ovarian cancer
Version 1.13

Panel Types: Rare Disease 100K,

Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.10

Panel Types: Rare Disease 100K,

Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders: Familial young-onset non-insulin-dependent diabetes
Version 1.61

Panel Types: Rare Disease 100K,

Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Familial dysautonomia

Version 1.9

Panel Types: Rare Disease 100K,

Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

Panel Types: Rare Disease 100K,

Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia
Version 1.27

Panel Types: Rare Disease 100K,

Familial hypercholesterolaemia - targeted panel

Relevant disorders: R134
Version 1.9

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Familial hyperparathyroidism

Relevant disorders: R151
Version 2.13

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K,

Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders

Relevant disorders: Familial or syndromic hypoparathyroidism, R153
Version 2.5

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Familial melanoma

Relevant disorders: R254
Version 1.10

Panel Types: GMS Rare Disease, GMS signed-off,

Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

Panel Types: Rare Disease 100K,

Familial Neural Tube Defects

Version 1.10

Panel Types: Rare Disease 100K,

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 1.60

Panel Types: Rare Disease 100K,

Familial prostate cancer

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.16

Panel Types: Rare Disease 100K,

Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders: Familial rhabdomyosarcoma or sarcoma, Familial rhabdoid tumours
Version 1.4

Panel Types: Rare Disease 100K,

Familial tumoral calcinosis

Relevant disorders: R162
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

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 1.9

Panel Types: Rare Disease 100K,

Fetal anomalies

Relevant disorders: R21, Fetal anomalies with a likely genetic cause
Version 1.649

Panel Types: GMS signed-off, GMS Rare Disease Virtual,

Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.28

Panel Types: Rare Disease 100K,

Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders:
Version 1.60

Panel Types: Rare Disease 100K,

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 1.12

Panel Types: Rare Disease 100K,

Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.9

Panel Types: Rare Disease 100K,

Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

Panel Types: Actionable,

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, Early onset or syndromic epilepsy, R59
Version 2.352

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

Genomic imprinting

Version 0.104

Panel Types: Research,

GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes

Relevant disorders: GI tract tumours, Familial colon cancer, Multiple bowel polyps, Peutz-Jeghers syndrome, GI tract, Inherited colorectal cancer (with or without polyposis)
Version 1.18

Panel Types: Rare Disease 100K,

Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.35

Panel Types: Rare Disease 100K,

Glycogen storage disease

Relevant disorders: R274
Version 1.6

Panel Types: GMS Rare Disease, GMS signed-off,

Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Panel Types: Submitted List,

Growth failure in early childhood

Relevant disorders: R147
Version 1.67

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Haemonc, Haematological malignancies pertinent cancer susceptibility
Version 2.15

Panel Types: GMS signed-off, Cancer Germline 100K, GMS Cancer Germline Virtual,

Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

Panel Types: Rare Disease 100K,

Haematuria

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: Alport syndrome, Familial haematuria, R194
Version 2.11

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

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

Panel Types: Cancer Germline 100K,

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), R67
Version 2.162

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.221

Panel Types: Rare Disease 100K,

Hereditary ataxia - adult onset

Relevant disorders: Hereditary ataxia with onset in adulthood, R54
Version 2.48

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Hereditary ataxia and cerebellar anomalies - childhood onset

Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
Version 6.264

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders

Relevant disorders: R405
Version 1.35

Panel Types: GMS signed-off, GMS Rare Disease, Rare Disease 100K,

Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186
Version 2.6

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Charcot-Marie-Tooth disease
Version 1.385

Panel Types: Rare Disease 100K,

Hereditary neuropathy NOT PMP22 copy number

Relevant disorders: R78
Version 1.25

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.219

Panel Types: Rare Disease 100K,

Hereditary spastic paraplegia - adult onset

Relevant disorders: R60
Version 1.20

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Hereditary spastic paraplegia - childhood onset

Relevant disorders: Childhood onset hereditary spastic paraplegia, R61
Version 2.33

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Holoprosencephaly

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly - NOT chromosomal, R85
Version 2.17

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off,

Hydroa vacciniforme

Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Hydrocephalus

Relevant disorders: Hydrocephalus, R86
Version 2.99

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off,

Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Resistance to thyroid hormone, R182
Version 2.7

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Hypertrophic Cardiomyopathy, HCM, R131
Version 2.21

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Hypocalciuric hypercalcaemia

Relevant disorders: R152
Version 2.8

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders

Relevant disorders: Kallmann syndrome, Kallmann syndrom, Idiopathic hypogonadotropic hypogonadism
Version 1.32

Panel Types: Rare Disease 100K,

Hypogonadotropic hypogonadism idiopathic

Relevant disorders: R148
Version 1.42

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Hypophosphataemia or rickets

Relevant disorders: R154
Version 2.14

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Hypotonic infant

Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69
Version 9.1448

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Ichthyosis and erythrokeratoderma

Relevant disorders: R165
Version 1.60

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.1

Panel Types: Rare Disease 100K,

Inborn errors of metabolism

Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Likely inborn error of metabolism, R98
Version 2.134

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Component Of Super Panel,

Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders: Infantile enterocolitis and monogenic inflammatory bowel disease
Version 1.19

Panel Types: Rare Disease 100K,

Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.3

Panel Types: Rare Disease 100K,

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 1.159

Panel Types: Rare Disease 100K,

Inherited MMR deficiency (Lynch syndrome)

Relevant disorders: R210
Version 1.9

Panel Types: GMS Rare Disease, GMS signed-off,

Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders:
Version 1.5

Panel Types: Rare Disease 100K,

Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial ovarian cancer, R207
Version 2.20

Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Inherited pancreatic cancer

Relevant disorders: R367
Version 1.18

Panel Types: GMS Rare Disease, GMS signed-off,

Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Neuro-endocrine Tumours- PCC and PGL
Version 1.6

Panel Types: Rare Disease 100K,

Inherited phaeochromocytoma and paraganglioma excluding NF1

Relevant disorders: R223
Version 1.15

Panel Types: GMS Rare Disease, GMS signed-off,

Inherited polyposis

Relevant disorders: R211, R209
Version 1.24

Panel Types: GMS Rare Disease, GMS signed-off,

Inherited predisposition to acute myeloid leukaemia (AML)

Relevant disorders: R347
Version 1.19

Panel Types: GMS Rare Disease, GMS signed-off,

Inherited predisposition to GIST

Relevant disorders: R363
Version 1.11

Panel Types: GMS Rare Disease, GMS signed-off,

Inherited renal cancer

Relevant disorders: R224
Version 1.21

Panel Types: GMS Rare Disease, GMS signed-off,

Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Leukodystrophy - adult onset
Version 1.94

Panel Types: Rare Disease 100K,

Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders: Insulin resistance (including lipodystrophy
Version 1.12

Panel Types: Rare Disease 100K,

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, R29
Version 3.1076

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Intestinal failure

Relevant disorders: R331
Version 1.40

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.28

Panel Types: Rare Disease 100K,

Iron metabolism disorders

Relevant disorders: R96
Version 1.33

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders

Relevant disorders:
Version 1.35

Panel Types: Rare Disease 100K,

Juvenile dermatomyositis

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.3

Panel Types: Rare Disease 100K,

Kabuki syndrome

Level 3: Kabuki
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

Kleine-Levin syndrome

Level 3: Sleep disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Kleine-Levin syndrome and other inherited sleep disorders
Version 1.7

Panel Types: Rare Disease 100K,

Laterality disorders and isomerism

Relevant disorders: R139
Version 1.45

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Leber hereditary optic neuropathy

Relevant disorders: R42
Version 1.9

Panel Types: GMS Rare Disease, GMS signed-off,

Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

Limb disorders

Version 2.41

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: R82
Version 2.18

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Lipodystrophy - childhood onset

Relevant disorders: R158
Version 2.15

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Lipoprotein lipase deficiency

Relevant disorders: R324
Version 1.15

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Long QT syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Long QT, R127
Version 2.22

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Lung cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Lung
Version 1.1

Panel Types: Cancer Germline 100K,

Lysosomal storage disorder

Relevant disorders: R276
Version 1.70

Panel Types: GMS Rare Disease, GMS signed-off,

Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Melanoma pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Malignant Melanoma
Version 1.0

Panel Types: Cancer Germline 100K,

Membranoproliferative glomerulonephritis

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, R197
Version 2.20

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders

Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features
Version 2.35

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off,

Mitochondrial disorder with complex I deficiency

Relevant disorders: R353
Version 1.13

Panel Types: GMS Rare Disease, GMS signed-off,

Mitochondrial disorder with complex II deficiency

Relevant disorders: R354
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Mitochondrial disorder with complex III deficiency

Relevant disorders: R355
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Mitochondrial disorder with complex IV deficiency

Relevant disorders: R356
Version 1.11

Panel Types: GMS Rare Disease, GMS signed-off,

Mitochondrial disorder with complex V deficiency

Relevant disorders: R357
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Mitochondrial DNA maintenance disorder

Relevant disorders: R352
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Mitochondrial liver disease

Relevant disorders: R317
Version 1.4

Panel Types: GMS Rare Disease, GMS signed-off,

Monogenic diabetes

Relevant disorders: R141
Version 2.42

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Monogenic nephrogenic diabetes insipidus

Relevant disorders: monogenic nephrogenic diabetes insipidus
Version 1.8

Panel Types: Rare Disease 100K,

Mosaic skin disorders - deep sequencing

Relevant disorders: R327
Version 1.5

Panel Types: GMS signed-off, GMS Rare Disease,

Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

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

Panel Types: Rare Disease 100K,

Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Multiple lipomas

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Multiple monogenic benign skin tumours

Relevant disorders: R230
Version 1.12

Panel Types: GMS signed-off, GMS Rare Disease,

Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.17

Panel Types: Rare Disease 100K,

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), R256
Version 2.18

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Neurodegenerative disorders - adult onset

Relevant disorders: R58
Version 2.174

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

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

Panel Types: Cancer Germline 100K,

Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders:
Version 1.26

Panel Types: Rare Disease 100K,

Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.15

Panel Types: GMS signed-off, Component Of Super Panel,

Neurological segmental overgrowth

Version 1.15

Panel Types: GMS Rare Disease, GMS signed-off, Component Of Super Panel,

Neuromuscular disorders

Relevant disorders: Other rare neuromuscular disorders, R381
Version 5.164

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Neuronal ceroid lipofuscinosis

Relevant disorders: R231
Version 1.23

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.9

Panel Types: Rare Disease 100K,

Non-acute porphyrias

Relevant disorders: R168
Version 1.21

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders:
Version 1.26

Panel Types: Rare Disease 100K,

Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

Panel Types: Rare Disease 100K,

Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.7

Panel Types: Rare Disease 100K,

Ocular and oculo-cutaneous albinism

Relevant disorders:
Version 1.21

Panel Types: Rare Disease 100K,

Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.43

Panel Types: Rare Disease 100K,

Ophthalmological ciliopathies

Version 1.17

Panel Types: GMS signed-off, Component Of Super Panel,

Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Inherited optic neuropathies, R41, R42.2
Version 2.40

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Osteogenesis Imperfecta, R102
Version 2.13

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Osteopetrosis

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R104.4
Version 1.26

Panel Types: GMS signed-off, GMS Rare Disease,

Ovarian cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Ovarian
Version 1.0

Panel Types: Cancer Germline 100K,

Paediatric disorders

Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R14, R27
Version 14.1705

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Paediatric disorders - additional genes

Version 1.93

Panel Types: GMS Rare Disease, GMS signed-off, Component Of Super Panel,

Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: neuropathic pain, Pain channelopathies
Version 1.9

Panel Types: Rare Disease 100K,

Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.17

Panel Types: Rare Disease 100K,

Palmoplantar keratodermas

Relevant disorders: R166
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Pancreatitis

Relevant disorders: R175
Version 2.10

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Parathyroid cancer
Version 1.3

Panel Types: Rare Disease 100K,

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 1.70

Panel Types: Rare Disease 100K,

Paroxysmal central nervous system disorders

Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders, R66
Version 1.12

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders

Relevant disorders: Periodic fever syndromes and amyloidosis
Version 1.12

Panel Types: Rare Disease 100K,

Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders

Relevant disorders: Other peroxisomal disorders, Peroxisomal biogenesis disorders
Version 1.12

Panel Types: Rare Disease 100K,

PHACE(S) syndrome

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

Panel Types: Rare Disease 100K,

Pigmentary skin disorders

Relevant disorders: R236
Version 1.10

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Pituitary hormone deficiency

Relevant disorders: R159
Version 2.6

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Pityriasis rubra pilaris

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax, R190
Version 2.37

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Polycystic liver disease interim

Relevant disorders: R173
Version 1.23

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Possible mitochondrial disorder - nuclear genes

Relevant disorders: R63
Version 1.42

Panel Types: GMS Rare Disease, GMS signed-off,

Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders: Primary ciliary dyskinesia
Version 1.29

Panel Types: Rare Disease 100K,

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, R15
Version 2.421

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders

Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136
Version 2.12

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

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 1.22

Panel Types: Rare Disease 100K,

Primary pigmented nodular adrenocortical disease

Relevant disorders: R160
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Progressive cardiac conduction disease

Relevant disorders: R328
Version 1.37

Panel Types: GMS signed-off, GMS Rare Disease, Component Of Super Panel,

Prostate cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Prostate
Version 1.1

Panel Types: Cancer Germline 100K,

Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: R195
Version 2.50

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders

Relevant disorders: PAH, R188
Version 2.13

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Pyruvate dehydrogenase (PDH) deficiency

Relevant disorders: R316
Version 1.29

Panel Types: GMS Rare Disease, GMS signed-off,

Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.13

Panel Types: Rare Disease 100K,

Rare anaemia

Relevant disorders: R92
Version 1.21

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Rare genetic inflammatory skin disorders

Relevant disorders: R332
Version 1.38

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies

Relevant disorders: Joubert syndrome, Bardet-Biedl Syndrome
Version 1.142

Panel Types: Rare Disease 100K,

Rare multisystem ciliopathy Super panel

Version 4.91

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

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 1.75

Panel Types: Rare Disease 100K,

Refuted genes

Relevant disorders:
Version 0.13

Panel Types: Reference,

Renal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Renal
Version 1.1

Panel Types: Cancer Germline 100K,

Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.41

Panel Types: Component Of Super Panel, GMS signed-off,

Renal superpanel - broad

Level 2: Renal and urinary tract disorders
Version 2.370

Panel Types: Super Panel,

Renal superpanel - narrow

Level 2: Renal and urinary tract disorders
Version 2.331

Panel Types: Super Panel,

Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders

Relevant disorders: Renal tubular acidosis, R198
Version 2.25

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Respiratory ciliopathies including non-CF bronchiectasis

Relevant disorders: R189
Version 1.45

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

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, R32, R33, R34, R35
Version 2.185

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Rhabdoid tumour predisposition

Relevant disorders: R358
Version 1.6

Panel Types: GMS Rare Disease, GMS signed-off,

Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.43

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Sarcoma, Sarcoma pertinent cancer susceptibility
Version 1.20

Panel Types: Cancer Germline 100K,

Sarcoma susceptibility

Version 1.69

Panel Types: GMS signed-off, GMS Cancer Germline Virtual,

Segmental overgrowth disorders

Relevant disorders: Regional overgrowth disorders, R110
Version 2.13

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

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, R149
Version 2.38

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Severe familial anorexia

Level 3: Disorders of extremely low weight , severe familial anorexia
Level 2: Metabolic disorders
Version 1.3

Panel Types: Rare Disease 100K,

Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly, R88
Version 2.150

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders

Relevant disorders:
Version 1.7

Panel Types: Rare Disease 100K,

Severe Paediatric Disorders

Version 1.77

Panel Types: Research,

Short QT syndrome

Relevant disorders: R130
Version 2.7

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders

Relevant disorders: Silver-Russell syndrome
Version 1.11

Panel Types: Rare Disease 100K,

Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.10

Panel Types: GMS signed-off, Component Of Super Panel,

Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104
Version 2.97

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.27

Panel Types: Rare Disease 100K,

Skeletal muscle channelopathy

Relevant disorders: R76, Myotonia congenita
Version 1.21

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R45
Version 2.16

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.18

Panel Types: Rare Disease 100K,

Structural eye disease

Relevant disorders: R36
Version 1.66

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Sudden cardiac death

Relevant disorders: Molecular autopsy, R138, R408
Version 9.185

Panel Types: GMS signed-off, GMS Rare Disease, GMS Rare Disease Virtual, Super Panel,

Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Unexplained sudden death in the young
Version 1.15

Panel Types: Rare Disease 100K,

Surfactant deficiency

Relevant disorders: R192
Version 1.9

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Testicular cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Testicular Germ Cell Tumours
Version 1.1

Panel Types: Cancer Germline 100K,

Thoracic aortic aneurysm and dissection

Relevant disorders: R125
Version 1.7

Panel Types: GMS signed-off, GMS Rare Disease Virtual,

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 1.112

Panel Types: Rare Disease 100K,

Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

Thrombocythaemia

Level 3: Haemostasis disorders
Level 2: Haematological disorders

Relevant disorders: R406
Version 1.2

Panel Types: GMS signed-off, GMS Rare Disease,

Thrombophilia

Relevant disorders: R97
Version 1.19

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Thyroid cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Endocrine
Version 1.0

Panel Types: Cancer Germline 100K,

Tubulointerstitial kidney disease

Relevant disorders: R202
Version 1.11

Panel Types: GMS Rare Disease, GMS signed-off,

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, R359
Version 2.17

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, GMS Cancer Germline Virtual,

Ultra-rare undescribed monogenic disorders

Level 3: Undescribed disorders
Level 2: Ultra-rare disorders
Version 1.2

Panel Types: Rare Disease 100K,

Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Undiagnosed Metabolic Panel
Version 1.457

Panel Types: Rare Disease 100K,

Undiagnosed monogenic disorder seen in a specialist genetics clinic

Level 3: Multi-system groups
Level 2: Ultra-rare disorders
Version 1.0

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, End-stage renal disease - childhood onset
Version 1.92

Panel Types: Rare Disease 100K,

Unexplained paediatric onset end-stage renal disease

Relevant disorders: R257
Version 1.18

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

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

Panel Types: Cancer Germline 100K,

VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.31

Panel Types: Rare Disease 100K,

Vascular skin disorders

Relevant disorders: R326
Version 1.47

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Viral resistance

Level 2: Viral research
Version 0.63

Panel Types: Research,

White matter disorders - adult onset

Relevant disorders: R62
Version 1.10

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

White matter disorders and cerebral calcification - narrow panel

Version 1.88

Panel Types: GMS signed-off, GMS Rare Disease, Component Of Super Panel,

White matter disorders - childhood onset

Relevant disorders: Childhood onset leukodystrophy, R109
Version 6.1442

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

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, R227
Version 2.8

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K, GMS Rare Disease,