450 panels

Acute intermittent porphyria

Relevant disorders: R169
Version 1.1

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

Acute rhabdomyolysis

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

Relevant disorders: R419
Version 1.18

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

Additional findings health related

Version 0.114

Panel Types: Additional Findings,

Additional findings health related - adults

Version 2.2

Panel Types: Super Panel, Additional Findings,

Additional findings health related - adult specific

Version 1.2

Panel Types: Component Of Super Panel, Additional Findings,

Additional findings health related - children

Version 1.0

Panel Types: Component Of Super Panel, Additional Findings,

Additional findings health related - CNV analysis adults

Version 2.2

Panel Types: Super Panel, Additional Findings,

Additional findings health related - CNV analysis adult specific

Version 1.2

Panel Types: Component Of Super Panel, Additional Findings,

Additional findings health related - CNV analysis children

Version 1.0

Panel Types: Component Of Super Panel, Additional Findings,

Additional findings reproductive carrier status

Version 1.0

Panel Types: Additional Findings,

Adult onset dystonia, chorea or related movement disorder

Relevant disorders: Adult onset movement disorder, R56
Version 3.18

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

Adult onset hereditary spastic paraplegia

Relevant disorders: Hereditary spastic paraplegia - adult onset, R60
Version 3.21

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

Adult onset leukodystrophy

Relevant disorders: White matter disorders - adult onset, R62
Version 3.23

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

Adult onset neurodegenerative disorder

Relevant disorders: Neurodegenerative disorders - adult onset, R58
Version 4.41

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

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 2.27

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

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 1.37

Panel Types: Rare Disease 100K,

Agammaglobulinaemia with absent BTK expression

Relevant disorders: R233
Version 1.1

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

Albinism or congenital nystagmus

Relevant disorders: R39
Version 3.3

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

Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis

Relevant disorders: R293
Version 1.1

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

Alstrom syndrome

Relevant disorders: R106
Version 1.1

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

Alveolar capillary dysplasia with misalignment of pulmonary veins

Relevant disorders: R330
Version 1.2

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

Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Amelogenesis Imperfecta, R340
Version 3.3

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

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 1.67

Panel Types: Rare Disease 100K,

Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders: Anophthalmia or microphthamia, Anophthalmia/microphthamia, Anophthalmia/microphthalmia
Version 1.51

Panel Types: Rare Disease 100K,

APC associated Polyposis

Relevant disorders: R414
Version 1.1

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

Arrhythmogenic right ventricular cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Arrhythmogenic cardiomyopathy, R133
Version 3.9

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

Arthrogryposis

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

Relevant disorders: Arthrogrythsis, R83
Version 5.20

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

Ataxia and cerebellar anomalies - narrow panel

Version 4.40

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

Ataxia telangiectasia - mutation testing

Relevant disorders: R295
Version 1.1

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

Atypical haemolytic uraemic syndrome

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

Relevant disorders: R201
Version 3.3

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

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 1.9

Panel Types: Rare Disease 100K,

Autism

Version 0.36

Panel Types: Research,

Autoimmune lymphoproliferative syndrome with defective apoptosis

Relevant disorders: R19
Version 1.1

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

Autoimmune Polyendocrine Syndrome

Relevant disorders: R155
Version 1.1

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

Autoinflammatory disorders

Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders

Relevant disorders: R413
Version 1.11

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

Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders

Relevant disorders:
Version 1.14

Panel Types: Rare Disease 100K,

Autosomal recessive primary hypertrophic osteoarthropathy

Relevant disorders: R167
Version 1.12

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

BAP1 associated tumour predisposition syndrome

Relevant disorders: R422
Version 1.1

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

Bardet Biedl syndrome

Relevant disorders: R107
Version 2.4

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

Barth syndrome

Relevant disorders: R391
Version 1.2

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

Beckwith-Wiedemann syndrome

Relevant disorders: R49.3
Version 1.1

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 1.120

Panel Types: Rare Disease 100K,

Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Cataracts, R31
Version 4.8

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

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 3.7

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

Blepharophimosis ptosis and epicanthus inversus

Relevant disorders: R43
Version 1.1

Panel Types: 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 1.4

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

Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80

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 2.7

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

Brugada syndrome and cardiac sodium channel disease

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Brugada syndrome, R128
Version 3.6

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

CADASIL

Relevant disorders: R337
Version 1.2

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

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 1.173

Panel Types: Rare Disease 100K,

Calcium-sensing receptor phenotypes

Relevant disorders: R319
Version 1.1

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

Cardiac arrhythmias

Relevant disorders: Cardiac arrythmias
Version 13.27

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

Cardiac arrhythmias - additional genes

Version 3.3

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

Carney complex

Relevant disorders: R156
Version 1.1

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

Catecholaminergic polymorphic VT

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129
Version 4.4

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

CDH1-related cancer syndrome

Relevant disorders: R215
Version 1.5

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

Central congenital hypoventilation

Relevant disorders: R333
Version 1.1

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

Cerebellar hypoplasia

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

Relevant disorders: Cerebellar Hypoplasia, Pontine tegmental cap dysplasia
Version 1.73

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 malformation

Relevant disorders: Cerebral malformations, R87
Version 10.20

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

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 3.8

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

CHARGE syndrome

Version 0.11

Childhood onset dystonia, chorea or related movement disorder

Relevant disorders: Childhood onset dystonia or chorea or related movement disorder, R57
Version 3.55

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

Childhood onset hereditary spastic paraplegia

Relevant disorders: Hereditary spastic paraplegia - childhood onset, R61
Version 4.28

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

Childhood onset leukodystrophy

Relevant disorders: White matter disorders - childhood onset, R109
Version 14.1117

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

Childhood solid tumours

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, Tumour predisposition - childhood onset, R359
Version 4.9

Panel Types: Rare Disease 100K, GMS Cancer Germline 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 1.25

Panel Types: Cancer Germline 100K,

Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders

Relevant disorders:
Version 1.16

Panel Types: Rare Disease 100K,

Cholestasis

Relevant disorders: R171
Version 3.4

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

Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.5

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 4.102

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

Cleidocranial Dysplasia

Relevant disorders: R415
Version 1.1

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

ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Version 0.11

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 1.10

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

Combined vitamin K-dependent clotting factor deficiency

Relevant disorders: R123
Version 1.1

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

Common craniosynostosis syndromes

Relevant disorders: R99
Version 1.15

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

Confirmed Fanconi anaemia or Bloom syndrome

Relevant disorders: R229, R258
Version 2.4

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

Congenital adrenal hyperplasia diagnostic test

Relevant disorders: R180
Version 1.1

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

Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders

Relevant disorders: R150
Version 3.9

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 4.13

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

Congenital fibrosis of the extraocular muscles

Relevant disorders: R46
Version 1.16

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

Congenital hyperinsulinism

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

Relevant disorders: Hyperinsulinism, R144
Version 3.4

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 2.18

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 4.15

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

Congenital myaesthenic syndrome

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

Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80
Version 4.5

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

Congenital myopathy

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

Relevant disorders: R81
Version 4.33

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

Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Corneal abnormalities, Corneal dystrophy
Version 1.12

Panel Types: Rare Disease 100K,

Corneal dystrophy

Relevant disorders: Corneal dystrophies, R262
Version 3.9

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

COVID-19 research

Level 2: Viral research

Relevant disorders: Viral susceptibility
Version 1.140

Panel Types: Research,

Currarino triad

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Cutaneous photosensitivity with a likely genetic cause

Relevant disorders: R237
Version 3.3

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

Cystic fibrosis diagnostic test

Relevant disorders: R184
Version 1.1

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

Cystic kidney disease

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

Relevant disorders: Cystic kidney disease
Version 4.19

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 7.27

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

Cystinosis

Relevant disorders: R334
Version 1.1

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

Cytopenia - NOT Fanconi anaemia

Relevant disorders: R91
Version 3.20

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

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 1.112

Panel Types: Rare Disease 100K,

DDG2P

Version 3.78

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

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 1.22

Panel Types: Rare Disease 100K,

Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

Relevant disorders:
Version 1.67

Panel Types: Rare Disease 100K,

DICER1-related cancer predisposition

Relevant disorders: R364
Version 1.1

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

Dilated and arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Dilated cardiomyopathy - adult and teen, R132
Version 2.17

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

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 1.83

Panel Types: Rare Disease 100K,

Disorders of sex development

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

Relevant disorders: R146
Version 4.4

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 3.16

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

Duchenne or Becker muscular dystrophy

Relevant disorders: R73
Version 1.1

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

Ductal plate malformation

Relevant disorders: Ductal plate malformation (DPM), Polycystic liver disease
Version 1.27

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 1.83

Panel Types: Rare Disease 100K,

Early onset dystonia

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

Relevant disorders:
Version 1.146

Panel Types: Rare Disease 100K,

Early onset or syndromic epilepsy

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, Genetic epilepsy syndromes, R59
Version 4.133

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

Ectodermal dysplasia

Relevant disorders: R163
Version 3.22

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

Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders

Relevant disorders:
Version 1.24

Panel Types: Rare Disease 100K,

Ehlers Danlos syndrome with a likely monogenic cause

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, Ehlers Danlos syndromes, R101
Version 3.9

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

Elastin-related phenotypes

Relevant disorders: R140
Version 1.1

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

Endocrine neoplasia

Relevant disorders: Endocrine neoplasms, R217
Version 3.3

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

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 1.6

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

Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.11

Panel Types: Rare Disease 100K,

Epidermolysis bullosa and congenital skin fragility

Relevant disorders: R164
Version 2.7

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

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 1.21

Panel Types: Rare Disease 100K,

Fabry disease

Relevant disorders: R335
Version 1.1

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

Facioscapulohumeral muscular dystrophy - extended testing

Relevant disorders: R345
Version 1.1

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

Factor II deficiency

Relevant disorders: R112
Version 1.1

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

Factor IX deficiency

Relevant disorders: R118
Version 1.1

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

Factor V deficiency

Relevant disorders: R115
Version 1.1

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

Factor VII deficiency

Relevant disorders: R116
Version 1.1

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

Factor VIII deficiency

Relevant disorders: R117
Version 1.1

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

Factor X deficiency

Relevant disorders: R119
Version 1.1

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

Factor XI deficiency

Relevant disorders: R120
Version 1.1

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

Factor XIII deficiency

Relevant disorders: R122
Version 1.1

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

Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial breast and or ovarian cancer
Version 1.20

Panel Types: Rare Disease 100K,

Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.16

Panel Types: Rare Disease 100K,

Familial chylomicronaemia syndrome (FCS)

Relevant disorders: Lipoprotein lipase deficiency, R324
Version 3.3

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

Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.5

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 1.67

Panel Types: Rare Disease 100K,

Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Familial dysalbuminaemic hyperthyroxinaemia

Relevant disorders: R329
Version 1.1

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

Familial dysautonomia

Version 1.17

Panel Types: Rare Disease 100K,

Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.3

Panel Types: Rare Disease 100K,

Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

Panel Types: Rare Disease 100K,

Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia
Version 1.30

Panel Types: Rare Disease 100K,

Familial hypercholesterolaemia (GMS)

Relevant disorders: Familial hypercholesterolaemia - targeted panel, R134
Version 2.4

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

Familial hyperparathyroidism or hypocalciuric hypercalcaemia

Relevant disorders: Familial hyperparathyroidism, Hypocalciuric hypercalcaemia, R151
Version 3.6

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 2.13

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

Familial melanoma

Relevant disorders: R254
Version 2.3

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 1.3

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 1.80

Panel Types: Rare Disease 100K,

Familial prostate cancer

Relevant disorders:
Version 1.3

Panel Types: Rare Disease 100K,

Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.30

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 1.5

Panel Types: Rare Disease 100K,

Familial tumoral calcinosis

Relevant disorders: R162
Version 1.10

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

Familial tumours of the nervous system

Relevant disorders: R221
Version 1.3

Panel Types: 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 1.14

Panel Types: Rare Disease 100K,

Fetal anomalies

Relevant disorders: R21, Fetal anomalies with a likely genetic cause, Fetal anomalies with a likely genetic cause - non urgent, R412
Version 3.121

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

Fetal hydrops

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

Relevant disorders:
Version 1.61

Panel Types: Rare Disease 100K,

Fuchs endothelial corneal dystrophy type 3

Relevant disorders: R439
Version 1.3

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

Fumarate hydratase-related tumour syndromes

Relevant disorders: R365
Version 1.1

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

Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders:
Version 1.73

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 1.23

Panel Types: Rare Disease 100K,

Gaucher disease

Relevant disorders: R272
Version 1.1

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

Generalised arterial calcification in infancy

Relevant disorders: R384
Version 1.1

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

Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.9

Panel Types: Actionable,

Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes

Relevant disorders:
Version 1.10

Panel Types: Rare Disease 100K,

Genomic imprinting

Version 0.149

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 1.22

Panel Types: Rare Disease 100K,

Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.42

Panel Types: Rare Disease 100K,

Glucokinase-related fasting hyperglycaemia

Relevant disorders: R142
Version 1.1

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

Glutaric acidaemia I

Relevant disorders: R275
Version 1.1

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

Glycogen storage disease

Relevant disorders: R274
Version 2.3

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

Glycogen storage disease V

Relevant disorders: R273
Version 1.1

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

GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB

Relevant disorders: R288
Version 1.1

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 3.6

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 4.4

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

Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

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 2.13

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

Haemoglobinopathy trait or carrier testing

Relevant disorders: R361
Version 1.1

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

Haemophagocytic syndrome with absent perforin expression

Relevant disorders: R232
Version 1.2

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

Haemophagocytic syndrome with absent XIAP expression

Relevant disorders: R18
Version 1.1

Panel Types: 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,

Hereditary alpha tryptasaemia

Relevant disorders: R436
Version 1.3

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

Hereditary angioedema types I and II

Relevant disorders: R341
Version 1.1

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

Hereditary ataxia

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

Relevant disorders:
Version 1.331

Panel Types: Rare Disease 100K,

Hereditary ataxia and cerebellar anomalies - childhood onset

Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
Version 12.69

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

Hereditary ataxia with onset in adulthood

Relevant disorders: Hereditary ataxia - adult onset, R54
Version 4.26

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

Hereditary Erythrocytosis

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

Relevant disorders: R405
Version 2.3

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

Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186
Version 3.5

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

Hereditary neuropathy

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

Relevant disorders: Charcot-Marie-Tooth disease
Version 1.472

Panel Types: Rare Disease 100K,

Hereditary neuropathy or pain disorder

Relevant disorders: Hereditary neuropathy NOT PMP22 copy number, Hereditary neuropathy or pain disorder - NOT PMP22 copy number, R78
Version 3.65

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

Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308

Panel Types: Rare Disease 100K,

Hereditary systemic amyloidosis

Relevant disorders: Amyloidosis, R204
Version 1.21

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

Hirschsprung disease

Relevant disorders: R177
Version 1.1

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

Holoprosencephaly - NOT chromosomal

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

Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly, R85
Version 4.4

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 4.3

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

Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.21

Panel Types: Rare Disease 100K,

Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Resistance to thyroid hormone, R182
Version 3.4

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

Hypertrophic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Hypertrophic cardiomyopathy - teen and adult, HCM, R131
Version 4.6

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

Hypogonadotropic hypogonadism

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

Relevant disorders: Kallmann syndrome, Kallmann syndrom, Idiopathic hypogonadotropic hypogonadism
Version 1.40

Panel Types: Rare Disease 100K,

Hypogonadotropic hypogonadism (GMS)

Relevant disorders: Hypogonadotropic hypogonadism idiopathic, R148
Version 3.14

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

Hypophosphataemia or rickets

Relevant disorders: R154
Version 3.4

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 25.1171

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

Ichthyosis and erythrokeratoderma

Relevant disorders: R165
Version 3.19

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

Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.2

Panel Types: Rare Disease 100K,

Incontinentia pigmenti

Relevant disorders: R239
Version 1.1

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

Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders: Infantile enterocolitis and monogenic inflammatory bowel disease
Version 1.39

Panel Types: Rare Disease 100K,

Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.10

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 1.175

Panel Types: Rare Disease 100K,

Inherited breast cancer and ovarian cancer

Relevant disorders: R208
Version 2.11

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

Inherited MMR deficiency (Lynch syndrome)

Relevant disorders: R210
Version 1.12

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 1.7

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 4.3

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

Inherited pancreatic cancer

Relevant disorders: R367
Version 2.3

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

Inherited parathyroid cancer

Relevant disorders: R226
Version 1.1

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 1.11

Panel Types: Rare Disease 100K,

Inherited phaeochromocytoma and paraganglioma excluding NF1

Relevant disorders: R223
Version 2.6

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

Inherited polyposis and early onset colorectal cancer - germline testing

Relevant disorders: Inherited polyposis, R211
Version 2.8

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

Inherited predisposition to acute myeloid leukaemia (AML)

Relevant disorders: R347
Version 3.3

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

Inherited predisposition to GIST

Relevant disorders: R363
Version 1.13

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

Inherited prostate cancer

Relevant disorders: R430
Version 1.4

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

Inherited renal cancer

Relevant disorders: R224
Version 1.26

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

Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)

Relevant disorders: R366
Version 1.1

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 1.175

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 1.16

Panel Types: Rare Disease 100K,

Intellectual disability - microarray and sequencing

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, Intellectual disability, R29
Version 5.341

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

Intestinal failure or congenital diarrhoea

Relevant disorders: R331, Intestinal failure
Version 3.3

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

Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.35

Panel Types: Rare Disease 100K,

IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked

Relevant disorders: R157
Version 1.1

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

Iron metabolism disorders - NOT common HFE mutations

Relevant disorders: Iron metabolism disorders, R96
Version 2.3

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

IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders

Relevant disorders:
Version 1.58

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 1.5

Panel Types: Rare Disease 100K,

Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.8

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,

Krabbe disease - GALC deficiency

Relevant disorders: R280
Version 1.1

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

Krabbe disease - Saposin A deficiency

Relevant disorders: R281
Version 1.1

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

Laterality disorders and isomerism

Relevant disorders: R139
Version 3.7

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

Leber hereditary optic neuropathy

Relevant disorders: R41.3, R42.1
Version 2.8

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,

Li Fraumeni Syndrome

Relevant disorders: R216
Version 1.3

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

Likely inborn error of metabolism - targeted testing not possible

Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Likely inborn error of metabolism, Inborn errors of metabolism, R98
Version 4.77

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

Limb disorders

Version 4.13

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

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

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

Relevant disorders: Limb girdle muscular dystrophy, R82
Version 4.24

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

Lipodystrophy - childhood onset

Relevant disorders: R158
Version 4.50

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

Long QT syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Long QT, R127
Version 3.7

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

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,

Lymphoproliferative syndrome with absent SAP expression

Relevant disorders: R17
Version 1.1

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

Lysosomal acid lipase deficiency

Relevant disorders: R325
Version 1.1

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

Lysosomal storage disorder

Relevant disorders: R276
Version 3.3

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

Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.12

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

Malignant hyperthermia

Relevant disorders: R371
Version 1.3

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

MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing

Relevant disorders: R403
Version 1.1

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

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 including C3 glomerulopathy

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

Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, Membranoproliferative glomerulonephritis, R197
Version 3.3

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

Mitochondrial Complex V deficiency, TMEM70 type

Relevant disorders: R396
Version 1.1

Panel Types: 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 4.113

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 3.7

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

Mitochondrial disorder with complex II deficiency

Relevant disorders: R354
Version 2.8

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

Mitochondrial disorder with complex III deficiency

Relevant disorders: R355
Version 2.5

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

Mitochondrial disorder with complex IV deficiency

Relevant disorders: R356
Version 3.4

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

Mitochondrial disorder with complex V deficiency

Relevant disorders: R357
Version 2.12

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

Mitochondrial DNA maintenance disorder

Relevant disorders: R352
Version 3.6

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

Mitochondrial liver disease, including transient infantile liver failure

Relevant disorders: Mitochondrial liver disease, R317
Version 1.12

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

Mitochondrial neurogastrointestinal encephalopathy

Relevant disorders: R394
Version 1.1

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

Monitoring for G(M)CSF escape mutations

Relevant disorders: R338
Version 1.1

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

Monogenic diabetes

Relevant disorders: R141
Version 2.53

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

Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders

Relevant disorders: Hearing loss, Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), Non-syndromic hearing loss, R67
Version 4.22

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

Monogenic nephrogenic diabetes insipidus

Relevant disorders: monogenic nephrogenic diabetes insipidus
Version 1.11

Panel Types: Rare Disease 100K,

Mosaic brain disorders - deep sequencing

Relevant disorders: R429
Version 0.141

Panel Types: GMS Rare Disease,

Mosaic skin disorders - deep sequencing

Relevant disorders: R327
Version 2.41

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

Mucolipidosis II and III Alpha or Beta

Relevant disorders: R289, Mucolipidosis II and III Alpha/Beta
Version 1.1

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

Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

Mucopolysaccharidosis type IH or S

Relevant disorders: R277, Mucopolysaccharidosis type IH/S
Version 1.1

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

Mucopolysaccharidosis type II

Relevant disorders: R278
Version 1.1

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

Mucopolysaccharidosis type IIIA

Relevant disorders: R291
Version 1.1

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

Mucopolysaccharidosis type IIIB

Relevant disorders: R292
Version 1.1

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

Mucopolysaccharidosis type IVA

Relevant disorders: R287
Version 1.1

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

Mucopolysaccharidosis type VI

Relevant disorders: R290
Version 1.1

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

Multi locus imprinting disorders

Level 2: Endocrinology

Relevant disorders: R417.2
Version 1.6

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

Multi-organ autoimmune diabetes

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

Relevant disorders:
Version 1.11

Panel Types: Rare Disease 100K,

Multiple endocrine neoplasia type 2

Relevant disorders: R218
Version 1.1

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

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 1.14

Panel Types: Rare Disease 100K,

Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

Multiple exostoses

Relevant disorders: R390
Version 1.1

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

Multiple lipomas

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

Multiple monogenic benign skin tumours

Relevant disorders: R230
Version 2.4

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

NARP syndrome or maternally inherited Leigh syndrome

Relevant disorders: R351
Version 1.1

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

Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Panel Types: Rare Disease 100K,

Neonatal diabetes

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

Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes diagnosed <6 months, Diabetes - neonatal onset, R143
Version 4.4

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

Neonatal diabetes - small panel

Relevant disorders: R143.1, Neonatal diabetes
Version 1.3

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

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 4.11

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

Neuroendocrine cancer pertinent cancer susceptibility

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

Relevant disorders: phaeochromocytoma, paraganglioma, carcinoid, Neuroendocrine
Version 1.4

Panel Types: Cancer Germline 100K,

Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders:
Version 1.32

Panel Types: Rare Disease 100K,

Neurofibromatosis type 1 (GMS)

Relevant disorders: R222
Version 1.1

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

Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.15

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

Neurological segmental overgrowth

Version 2.9

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

Neuronal ceroid lipofuscinosis

Relevant disorders: R231
Version 2.4

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

Neuronal ceroid lipofuscinosis type 2

Relevant disorders: R271
Version 1.1

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

Neuropophyseal diabetes insipidus

Relevant disorders: R440
Version 1.6

Panel Types: 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,

Neutropaenia consistent with ELANE mutations

Relevant disorders: R313
Version 1.1

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

Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome

Relevant disorders: R214
Version 1.1

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

Niemann-Pick disease type A or B

Relevant disorders: R282
Version 1.1

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

Niemann Pick disease type C

Relevant disorders: R380
Version 1.1

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

Nijmegen breakage syndrome

Relevant disorders: R259.2
Version 1.1

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

Non-acute porphyrias

Relevant disorders: R168
Version 1.23

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

Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders:
Version 1.29

Panel Types: Rare Disease 100K,

Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.8

Panel Types: Rare Disease 100K,

Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

Ocular and oculo-cutaneous albinism

Relevant disorders:
Version 1.23

Panel Types: Rare Disease 100K,

Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.46

Panel Types: Rare Disease 100K,

Ophthalmological ciliopathies

Version 3.5

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

Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Inherited optic neuropathies, R41
Version 4.16

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

Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Osteogenesis Imperfecta, R102
Version 4.4

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

Osteopetrosis

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R104.4
Version 1.33

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

Other rare neuromuscular disorders

Relevant disorders: Neuromuscular disorders, R381
Version 19.172

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

Ovarian cancer pertinent cancer susceptibility

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

Relevant disorders: Ovarian
Version 2.3

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

Paediatric disorders

Relevant disorders: Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R27
Version 35.1411

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

Paediatric disorders - additional genes

Version 3.7

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

Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6

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

Paediatric or syndromic cardiomyopathy

Relevant disorders: Cardiomyopathies - including childhood onset, R135
Version 3.42

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

Paediatric pseudo-obstruction syndrome

Relevant disorders: R438
Version 1.5

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

Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: neuropathic pain, Pain channelopathies
Version 1.12

Panel Types: Rare Disease 100K,

Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.29

Panel Types: Rare Disease 100K,

Palmoplantar keratodermas

Relevant disorders: R166
Version 3.17

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

Pancreatitis

Relevant disorders: R175
Version 3.4

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

Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Parathyroid cancer
Version 1.4

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 1.120

Panel Types: Rare Disease 100K,

Paroxysmal central nervous system disorders

Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders, R66
Version 3.10

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

Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.4

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 1.33

Panel Types: Rare Disease 100K,

Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders

Relevant disorders: Other peroxisomal disorders, Peroxisomal biogenesis disorders
Version 1.19

Panel Types: Rare Disease 100K,

Peutz Jeghers Syndrome

Relevant disorders: R212
Version 1.1

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

PHACE(S) syndrome

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.3

Panel Types: Rare Disease 100K,

Phenylketonuria

Relevant disorders: R283
Version 1.1

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

Pigmentary skin disorders

Relevant disorders: R236
Version 3.5

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

Pituitary hormone deficiency

Relevant disorders: R159
Version 3.5

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

Pityriasis rubra pilaris

Relevant disorders:
Version 1.2

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 3.5

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

POLG-related disorder

Relevant disorders: R315
Version 1.1

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

Polycystic liver disease

Relevant disorders: Polycystic liver disease interim, R173
Version 1.31

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

Possible mitochondrial disorder - nuclear genes

Relevant disorders: R63
Version 3.68

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

Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders: Primary ciliary dyskinesia
Version 1.40

Panel Types: Rare Disease 100K,

Primary hyperaldosteronism - KCNJ5

Relevant disorders: R344
Version 1.1

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

Primary immunodeficiency or monogenic inflammatory bowel disease

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, Primary immunodeficiency, R15
Version 4.123

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 3.9

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 1.67

Panel Types: Rare Disease 100K,

Primary pigmented nodular adrenocortical disease

Relevant disorders: R160
Version 1.10

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

Progressive cardiac conduction disease

Relevant disorders: R328
Version 2.5

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

Prostate cancer pertinent cancer susceptibility

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

Relevant disorders: Prostate
Version 1.2

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 4.3

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

Pseudoxanthoma elasticum

Relevant disorders: R420
Version 1.1

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

PTEN Hamartoma Tumor Syndrome

Relevant disorders: R213
Version 1.1

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

Pulmonary alveolar microlithiasis

Relevant disorders: R426
Version 1.1

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

Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders

Relevant disorders: PAH, R188
Version 3.5

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

Pulmonary fibrosis familial

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders

Relevant disorders: R421
Version 1.6

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

Pyruvate dehydrogenase (PDH) deficiency

Relevant disorders: R316
Version 1.36

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

Radial dysplasia

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

Relevant disorders:
Version 1.23

Panel Types: Rare Disease 100K,

Rare anaemia

Relevant disorders: R92
Version 3.4

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

Rare genetic inflammatory skin disorders

Relevant disorders: R332
Version 3.5

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

Rare multisystem ciliopathy disorders

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

Relevant disorders: Joubert syndrome, Bardet-Biedl Syndrome
Version 1.168

Panel Types: Rare Disease 100K,

Rare multisystem ciliopathy Super panel

Version 12.38

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

Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders

Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, Craniosynostosis, R100
Version 4.177

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

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 1.78

Panel Types: Rare Disease 100K,

Recurrent episodic apnoea

Relevant disorders: R434
Version 1.3

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

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 1.2

Panel Types: Cancer Germline 100K,

Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.3

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

Renal superpanel - broad

Level 2: Renal and urinary tract disorders
Version 18.72

Panel Types: Super Panel,

Renal superpanel - narrow

Level 2: Renal and urinary tract disorders
Version 16.60

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 4.17

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

Respiratory ciliopathies including non-CF bronchiectasis

Relevant disorders: R189
Version 3.3

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

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, Sorsby retinal dystrophy, Doyne retinal dystrophy, R32
Version 4.42

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

Retinoblastoma

Relevant disorders: R219
Version 1.1

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

Rhabdoid tumour predisposition

Relevant disorders: R358
Version 1.8

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

Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.39

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

Sandhoff disease

Relevant disorders: R285
Version 1.1

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

Sarcoma cancer susceptibility

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

Relevant disorders: Sarcoma, Sarcoma pertinent cancer susceptibility
Version 1.21

Panel Types: Cancer Germline 100K,

Sarcoma susceptibility

Version 1.75

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

SCID with features of gamma chain deficiency

Relevant disorders: R235
Version 1.1

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

Segmental or atypical neurofibromatosis type 1 testing

Relevant disorders: R376
Version 1.1

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

Segmental overgrowth disorders - Deep sequencing

Relevant disorders: Regional overgrowth disorders, Segmental overgrowth disorders, R110
Version 3.16

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

Severe combined immunodeficiency with adenosine deaminase deficiency

Relevant disorders: R16
Version 1.1

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

Severe combined immunodeficiency with PNP deficiency

Relevant disorders: R234
Version 1.1

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

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 4.10

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 1.17

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 4.41

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

Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

Severe Paediatric Disorders

Version 1.177

Panel Types: Research,

Short QT syndrome

Relevant disorders: R130
Version 3.9

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

Short stature - SHOX deficiency

Relevant disorders: R52
Version 1.1

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

Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders

Relevant disorders: Silver-Russell syndrome
Version 1.12

Panel Types: Rare Disease 100K,

Sitosterolaemia

Relevant disorders: R323
Version 1.1

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

Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.14

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

Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104
Version 4.30

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

Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.45

Panel Types: Rare Disease 100K,

Skeletal muscle channelopathy

Relevant disorders: R76, Myotonia congenita
Version 3.3

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

Smith-Lemli-Opitz syndrome

Relevant disorders: R270
Version 1.1

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

Spinal muscular atrophy type 1 rare mutation testing

Relevant disorders: R71
Version 1.1

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

Sporadic aniridia

Relevant disorders: Aniridia, R38
Version 3.5

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

Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R45
Version 4.3

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

Structural basal ganglia disorders

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

Relevant disorders:
Version 1.38

Panel Types: Rare Disease 100K,

Structural eye disease

Relevant disorders: R36
Version 3.58

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

Subcutaneous panniculitis T-cell lymphoma (SPTCL)

Relevant disorders: R424
Version 1.1

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

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,

Sudden unexplained death or survivors of a cardiac event

Relevant disorders: Molecular autopsy, Sudden cardiac death, Sudden cardiac death PILOT, R138, R425
Version 19.46

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

Surfactant deficiency

Relevant disorders: R192
Version 1.11

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

Syndromic and non syndromic craniosynostosis involving midline sutures

Relevant disorders: R416
Version 1.1

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

Tay-Sachs disease

Relevant disorders: R286
Version 1.1

Panel Types: 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,

Thalassaemia and other haemoglobinopathies

Relevant disorders: R93
Version 1.1

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

Thanatophoric dysplasia

Relevant disorders: R25
Version 1.1

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

Thiamine metabolism dysfunction syndrome 2

Relevant disorders: R395
Version 1.1

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

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 1.126

Panel Types: Rare Disease 100K,

Thoracic aortic aneurysm or dissection (GMS)

Relevant disorders: Thoracic aortic aneurysm and dissection, R125
Version 3.7

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

Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.18

Panel Types: Rare Disease 100K,

Thrombocythaemia

Level 3: Haemostasis disorders
Level 2: Haematological disorders

Relevant disorders: R406
Version 1.5

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

Thrombophilia with a likely monogenic cause

Relevant disorders: Thrombophilia, R97
Version 2.5

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

Thyroid cancer pertinent cancer susceptibility

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

Relevant disorders: Endocrine
Version 1.3

Panel Types: Cancer Germline 100K,

Tuberous sclerosis

Relevant disorders: R228
Version 1.1

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

Tubulointerstitial kidney disease

Relevant disorders: R202
Version 3.3

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

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 1.607

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 death in infancy and sudden unexplained death in childhood

Relevant disorders: R441
Version 6.298

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

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 1.117

Panel Types: Rare Disease 100K,

Unexplained young onset end-stage renal disease

Relevant disorders: Unexplained paediatric onset end-stage renal disease, R257
Version 3.11

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

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,