310 panels

Panel Evaluated genes Reviewers Actions
310 panels

Adult onset movement disorder


Relevant disorders: R56
Version 0.114

Panel Types: GMS Rare Disease,

214 of 214
100%

STRs: 11
Regions: 1
5 reviewers Download

Adult solid tumours cancer susceptibility

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

Relevant disorders: Carcinoma of unknown primary, Other, Adult solid tumours pertinent cancer susceptibility
Version 1.7

Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual,

97 of 103
94%
5 reviewers Download

Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes

Relevant disorders: Young adult onset cancer, Exceptionally young adult onset cancer, Multiple Tumours, Rare tumour predisposition syndromes
Version 1.22

Panel Types: Rare Disease 100K,

58 of 59
98%

Regions: 1
5 reviewers Download

Albinism or congenital nystagmus


Relevant disorders: R39
Version 1.0

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

19 of 41
46%
3 reviewers Download

Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Amelogenesis Imperfecta, R340
Version 2.0

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

39 of 39
100%
7 reviewers Download

Amyloidosis


Relevant disorders: R204
Version 0.18

Panel Types: GMS Rare Disease,

10 of 10
100%
2 reviewers Download

Amyotrophic lateral sclerosis/motor neuron disease

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

Relevant disorders: Amyotrophic lateral sclerosis or motor neuron disease
Version 1.29

Panel Types: Rare Disease 100K,

34 of 34
100%

STRs: 4
9 reviewers Download

Aniridia


Relevant disorders: R38
Version 2.0

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

6 of 7
86%

Regions: 1
3 reviewers Download

Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders: Anophthalmia or microphthamia, Anophthalmia/microphthamia, Anophthalmia/microphthalmia
Version 1.21

Panel Types: Rare Disease 100K,

58 of 58
100%
9 reviewers Download

Arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Arrhythmogenic Right Ventricular Cardiomyopathy, Arrythmogenic cardiomyopathy, R133
Version 1.36

Panel Types: Rare Disease 100K, GMS Rare Disease,

18 of 18
100%
8 reviewers Download

Arthrogryposis

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

Relevant disorders: Arthrogrythsis
Version 2.43

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

229 of 246
93%
10 reviewers Download

Arthrogryposis - broad panel


Relevant disorders: Arthrogryposis
Version 2.12

Panel Types: Super Panel, GMS Rare Disease Virtual,

269 of 286
94%
12 reviewers Download

Ataxia and cerebellar anomalies - narrow panel

Version 1.7

Panel Types: GMS Rare Disease, Component Of Super Panel,

21 of 215
10%

STRs: 13
Regions: 3
2 reviewers Download

Atypical haemolytic uraemic syndrome

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

Relevant disorders: R201
Version 2.1

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

13 of 13
100%
6 reviewers Download

Auditory Neuropathy Spectrum Disorder

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

Relevant disorders: Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy Spectrum Disorde
Version 1.8

Panel Types: Rare Disease 100K,

5 of 5
100%
4 reviewers Download

Autism

Version 0.15

Panel Types: Research,

733 of 733
100%
1 reviewer Download

Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders

Relevant disorders:
Version 1.9

Panel Types: Rare Disease 100K,

14 of 15
93%

Regions: 1
3 reviewers Download

Autosomal recessive primary hypertrophic osteoarthropathy

Version 0.11

Panel Types: GMS Rare Disease, Component Of Super Panel,

3 of 3
100%
1 reviewer Download

Bardet Biedl syndrome


Relevant disorders: R107
Version 0.24

Panel Types: GMS Rare Disease,

24 of 24
100%
12 reviewers Download

Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders

Relevant disorders: Atypical Beckwith-Wiedemann syndrome, Classical Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Weaver syndrome
Version 1.92

Panel Types: Rare Disease 100K,

22 of 23
96%

Regions: 1
6 reviewers Download

Bladder cancer pertinent cancer susceptibility

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

Relevant disorders: Bladder
Version 1.1

Panel Types: Cancer Germline 100K,

0 of 4
0%
0 reviewers Download

Bleeding and platelet disorders


Relevant disorders: R90
Version 0.77

Panel Types: GMS Rare Disease,

111 of 111
100%
6 reviewers Download

Brain cancer pertinent cancer susceptibility

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

Relevant disorders: Adult Glioma
Version 1.0

Panel Types: Cancer Germline 100K,

7 of 7
100%
2 reviewers Download

Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

Panel Types: Rare Disease 100K,

29 of 30
97%

STRs: 5
Regions: 1
5 reviewers Download

Breast cancer pertinent cancer susceptibility

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

Relevant disorders: Breast
Version 1.0

Panel Types: Cancer Germline 100K,

5 of 5
100%
2 reviewers Download

Brugada syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: R128
Version 1.42

Panel Types: Rare Disease 100K, GMS Rare Disease,

23 of 23
100%
10 reviewers Download

CAKUT

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

Relevant disorders: Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)
Version 1.39

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

65 of 66
98%

Regions: 1
9 reviewers Download

Cardiac arrhythmias


Relevant disorders: Cardiac arrythmias
Version 1.2

Panel Types: GMS Rare Disease Virtual,

3 of 43
7%
1 reviewer Download

Cardiomyopathies - including childhood onset


Relevant disorders: Paediatric or syndromic cardiomyopathy, R135
Version 0.13

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease,

172 of 180
96%

Regions: 1
15 reviewers Download

Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: R31
Version 1.33

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

172 of 172
100%
10 reviewers Download

Catecholaminergic polymorphic VT

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129
Version 1.20

Panel Types: Rare Disease 100K, GMS Rare Disease,

10 of 10
100%
6 reviewers Download

Cerebellar hypoplasia

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

Relevant disorders: Cerebellar Hypoplasia, Pontine tegmental cap dysplasia
Version 1.37

Panel Types: Rare Disease 100K,

65 of 66
98%
10 reviewers Download

Cerebral folate deficiency

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

4 of 4
100%
3 reviewers Download

Cerebral malformations


Relevant disorders: Cerebral malformation
Version 2.70

Panel Types: GMS Rare Disease Virtual, Super Panel,

177 of 376
47%

STRs: 13
Regions: 4
19 reviewers Download

Cerebral vascular malformations

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

Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease
Version 1.47

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

95 of 95
100%
5 reviewers Download

CHARGE syndrome

Version 0.10

1 of 1
100%
10 reviewers Download

Childhood solid tumours cancer susceptibility

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

Relevant disorders: Childhood;Childhood solid tumours pertinent cancer susceptibility
Version 1.5

Panel Types: Cancer Germline 100K,

71 of 83
86%
4 reviewers Download

Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders

Relevant disorders:
Version 1.13

Panel Types: Rare Disease 100K,

12 of 12
100%
4 reviewers Download

Cholestasis


Relevant disorders: R171
Version 1.0

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

39 of 39
100%
12 reviewers Download

Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

5 of 5
100%
4 reviewers Download

Classical tuberous sclerosis

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

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

2 of 2
100%
2 reviewers Download

Clefting

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

Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting
Version 1.59

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

245 of 263
93%

Regions: 5
13 reviewers Download

ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Version 0.10

Panel Types: ClinGen Curated genes,

53 of 53
100%
1 reviewer Download

ClinGen Gene Validity Curations

Version 0.64

Panel Types: ClinGen Curated genes,

47 of 47
100%
3 reviewers Download

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,

13 of 13
100%
3 reviewers Download

Combined factor V and VIII deficiency


Relevant disorders: R124
Version 0.22

Panel Types: GMS Rare Disease,

2 of 2
100%
5 reviewers Download

Common craniosynostosis syndromes


Relevant disorders: R99
Version 1.0

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

7 of 7
100%
1 reviewer Download

Confirmed Fanconi anaemia or Bloom syndrome


Relevant disorders: R229
Version 0.28

Panel Types: GMS Rare Disease,

22 of 22
100%
4 reviewers Download

Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders

Relevant disorders: R150
Version 2.0

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

20 of 20
100%
7 reviewers Download

Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Congential disorders of glycosylation
Version 1.31

Panel Types: Rare Disease 100K,

100 of 100
100%
7 reviewers Download

Congenital fibrosis of the extraocular muscles


Relevant disorders: R46
Version 1.0

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

6 of 6
100%
2 reviewers Download

Congenital hyperinsulinism

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

Relevant disorders: Hyperinsulinism, R144
Version 2.0

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

19 of 19
100%
7 reviewers Download

Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145
Version 2.0

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

36 of 36
100%

Regions: 2
6 reviewers Download

Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.60

Panel Types: Rare Disease 100K, GMS Rare Disease,

54 of 54
100%

STRs: 1
8 reviewers Download

Congenital myaesthenic syndrome

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

Relevant disorders: Congenital myaesthenia, Congenital myasthenia
Version 1.52

Panel Types: Rare Disease 100K, GMS Rare Disease,

35 of 35
100%
5 reviewers Download

Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.161

Panel Types: Rare Disease 100K, GMS Rare Disease,

101 of 104
97%

STRs: 2
Regions: 3
9 reviewers Download

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,

42 of 42
100%
5 reviewers Download

Corneal dystrophies


Relevant disorders: R262
Version 1.0

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

22 of 22
100%
2 reviewers Download

Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders

Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, R100
Version 2.0

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

116 of 116
100%

Regions: 2
7 reviewers Download

Currarino triad


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

11 of 11
100%
3 reviewers Download

Cutaneous photosensitivity with a likely genetic cause

Version 0.8

Panel Types: GMS Rare Disease, Component Of Super Panel,

2 of 2
100%
2 reviewers Download

Cystic kidney disease

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

Relevant disorders: Cystic kidney disease
Version 2.0

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

61 of 64
95%

Regions: 2
7 reviewers Download

Cystic renal disease


Relevant disorders: Cystic renal disease - PKD1, R193
Version 3.9

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

150 of 157
96%

Regions: 4
19 reviewers Download

Cytopenia - Fanconi breakage testing indicated

Version 0.1

Panel Types: GMS Rare Disease,

0 of 0
0%
0 reviewers Download

Cytopenia - NOT Fanconi anaemia


Relevant disorders: R91
Version 0.119

Panel Types: GMS Rare Disease,

84 of 84
100%
5 reviewers Download

Cytopenias and congenital anaemias

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

Relevant disorders: Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria, Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria, Congenital anaemias, Early onset pancytopenia and red cell disorders, Anaemias and red cell disorders, Cytopaenias and congenital anaemias, Cytopenia and pancytopenia
Version 1.71

Panel Types: Rare Disease 100K,

218 of 218
100%
12 reviewers Download

DDG2P

Version 1.81

Panel Types: GMS Rare Disease, Component Of Super Panel,

1858 of 1858
100%
4 reviewers Download

Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders

Relevant disorders: Bilateral microtia, Ear malformations with hearing impairment, Ear malformations, Familial hemifacial microsomia
Version 1.17

Panel Types: Rare Disease 100K,

56 of 57
98%

Regions: 3
8 reviewers Download

Diabetes - neonatal onset

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

Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes, Neonatal diabetes diagnosed <6 months, R143
Version 2.0

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

33 of 34
97%

Regions: 1
6 reviewers Download

Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

Relevant disorders:
Version 1.59

Panel Types: Rare Disease 100K,

64 of 65
98%

Regions: 1
7 reviewers Download

Dilated cardiomyopathy - adult and teen

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: R132
Version 0.44

Panel Types: GMS Rare Disease,

34 of 34
100%
9 reviewers Download

Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Dilated Cardiomyopathy, Dilated Cardiomyopathy (DCM), Dilated cardiomyopathy - teen and adult
Version 1.57

Panel Types: Rare Disease 100K,

84 of 84
100%
12 reviewers Download

Disorders of sex development

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

Relevant disorders: R146
Version 2.0

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

54 of 54
100%

Regions: 1
8 reviewers Download

Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.11

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

29 of 29
100%

STRs: 2
2 reviewers Download

Ductal plate malformation


Relevant disorders: Ductal plate malformation (DPM), Polycystic liver disease
Version 1.10

Panel Types: Rare Disease 100K,

54 of 150
36%
3 reviewers Download

Dystonia - childhood onset

Version 1.8

Panel Types: GMS Rare Disease, Component Of Super Panel,

10 of 184
5%

STRs: 7
Regions: 1
4 reviewers Download

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

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

Relevant disorders:
Version 1.48

Panel Types: Rare Disease 100K,

40 of 40
100%

STRs: 9
7 reviewers Download

Early onset dystonia

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

Relevant disorders:
Version 1.80

Panel Types: Rare Disease 100K,

66 of 114
58%

STRs: 4
15 reviewers Download

Ectodermal dysplasia

Version 0.22

Panel Types: GMS Rare Disease, Component Of Super Panel,

71 of 71
100%
9 reviewers Download

Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders

Relevant disorders:
Version 1.19

Panel Types: Rare Disease 100K,

29 of 29
100%
5 reviewers Download

Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders

Relevant disorders: Classical Ehlers Danlos Syndrome, Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense), Ehlers-Danlos syndrome type 3, Kyphoscoliotic Ehlers-Danlos syndrome, EDS, Ehlers-Danlos syndromes, R101
Version 2.0

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

75 of 75
100%
13 reviewers Download

Endocrine neoplasms


Relevant disorders: R217
Version 1.0

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

5 of 5
100%
6 reviewers Download

Endometrial cancer pertinent cancer susceptibility

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

Relevant disorders: Endometrial Carcinoma
Version 1.0

Panel Types: Cancer Germline 100K,

6 of 6
100%
2 reviewers Download

Epidermodysplasia verruciformis

Version 0.9

Panel Types: GMS Rare Disease, Component Of Super Panel,

3 of 7
43%
1 reviewer Download

Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

21 of 21
100%
4 reviewers Download

Epidermolysis bullosa and congenital skin fragility

Version 0.16

Panel Types: GMS Rare Disease, Component Of Super Panel,

46 of 46
100%
7 reviewers Download

Epilepsy - early onset or syndromic


Relevant disorders: Early onset or syndromic epilepsy
Version 2.647

Panel Types: GMS Rare Disease Virtual, Super Panel,

1095 of 1506
73%

STRs: 4
Regions: 14
32 reviewers Download

Erythropoietic protoporphyria, mild variant

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

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

2 of 2
100%
2 reviewers Download

Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.10

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

25 of 25
100%
4 reviewers Download

Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial breast and or ovarian cancer
Version 1.13

Panel Types: Rare Disease 100K,

26 of 26
100%
5 reviewers Download

Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.6

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

16 of 16
100%
5 reviewers Download

Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

25 of 25
100%
3 reviewers Download

Familial diabetes

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

Relevant disorders: Familial young-onset non-insulin-dependent diabetes
Version 1.38

Panel Types: Rare Disease 100K,

55 of 57
96%

Regions: 1
7 reviewers Download

Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

7 of 7
100%
3 reviewers Download

Familial dysautonomia

Version 1.7

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

22 of 22
100%
6 reviewers Download

Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

11 of 11
100%
2 reviewers Download

Familial Hirschsprung Disease

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

Panel Types: Rare Disease 100K,

62 of 62
100%
6 reviewers Download

Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia
Version 1.25

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

43 of 43
100%
8 reviewers Download

Familial hyperparathyroidism


Relevant disorders: R151
Version 2.1

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

10 of 10
100%
3 reviewers Download

Familial hypoparathyroidism

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

Relevant disorders: Familial or syndromic hypoparathyroidism, R153
Version 1.12

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

9 of 9
100%
4 reviewers Download

Familial melanoma


Relevant disorders: R254
Version 1.0

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

8 of 8
100%
5 reviewers Download

Familial Meniere Disease

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

Panel Types: Rare Disease 100K,

14 of 130
11%
4 reviewers Download

Familial Neural Tube Defects


Relevant disorders:
Version 1.5

Panel Types: Rare Disease 100K,

4 of 44
9%
3 reviewers Download

Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders

Relevant disorders: Fallots tetralogy, Hypoplastic Left Heart Syndrome, Left Ventricular Outflow Tract obstruction disorders, Pulmonary atresia, Transposition of the great vessels, Familial non-syndromic congenital heart disease, Familial congenital heart disease, Congenital heart disease, Syndromic congenital heart disease, Isomerism and laterality disorders
Version 1.49

Panel Types: Rare Disease 100K,

48 of 55
87%

Regions: 8
11 reviewers Download

Familial prostate cancer


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

14 of 14
100%
2 reviewers Download

Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.6

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

71 of 71
100%
7 reviewers Download

Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes

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

Panel Types: Rare Disease 100K,

18 of 18
100%
2 reviewers Download

Familial tumoral calcinosis


Relevant disorders: R162
Version 1.0

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

4 of 4
100%
2 reviewers Download

Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders: Familial tumour syndromes of the central & peripheral nervous system, Familial tumour syndromes of the central and peripheral nervous system
Version 1.9

Panel Types: Rare Disease 100K,

14 of 22
64%

Regions: 1
2 reviewers Download

Fetal anomalies


Relevant disorders: R21
Version 0.344

Panel Types: GMS Rare Disease Virtual,

1721 of 1721
100%
11 reviewers Download

Fetal hydrops

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

Relevant disorders:
Version 1.16

Panel Types: Rare Disease 100K,

68 of 68
100%

STRs: 1
7 reviewers Download

Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders:
Version 1.59

Panel Types: Rare Disease 100K,

64 of 82
78%
8 reviewers Download

Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders: Neonatal and familial gastrointestinal neuromuscular disorders, Infantile pseudo-obstruction, Early onset or familial intestinal pseudo obstruction
Version 1.10

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

27 of 27
100%

STRs: 1
6 reviewers Download

Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

12 of 12
100%
4 reviewers Download

Gene therapy clinical trials

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

Panel Types: Actionable,

21 of 21
100%
1 reviewer Download

Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus
Version 1.335

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

626 of 626
100%

STRs: 2
Regions: 13
27 reviewers Download

Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

9 of 12
75%
3 reviewers Download

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,

30 of 30
100%
10 reviewers Download

Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.5

Panel Types: Rare Disease 100K,

23 of 224
10%
5 reviewers Download

Glycogen storage disease


Relevant disorders: R274
Version 1.0

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

28 of 28
100%
2 reviewers Download

Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Panel Types: Submitted List,

66 of 66
100%
1 reviewer Download

Growth failure in early childhood


Relevant disorders: R147
Version 1.3

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

111 of 131
85%

Regions: 5
3 reviewers Download

Haematological malignancies cancer susceptibility

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

Relevant disorders: Haemonc;Haematological malignancies pertinent cancer susceptibility
Version 1.19

Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual,

93 of 93
100%
3 reviewers Download

Haematological malignancies for rare disease

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

Panel Types: Rare Disease 100K,

89 of 89
100%
3 reviewers Download

Haematuria

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

Relevant disorders: Alport syndrome, Familial haematuria, R194
Version 2.1

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

8 of 8
100%
6 reviewers Download

Head and neck cancer pertinent cancer susceptibility

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

Relevant disorders: Nasopharyngeal, Oral Oropharyngeal, Sinonasal
Version 1.0

Panel Types: Cancer Germline 100K,

12 of 12
100%
4 reviewers Download

Hearing loss

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

Relevant disorders: Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), R67
Version 2.2

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

358 of 358
100%
12 reviewers Download

Hereditary ataxia

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

Relevant disorders:
Version 1.202

Panel Types: Rare Disease 100K,

174 of 177
98%

STRs: 14
Regions: 3
12 reviewers Download

Hereditary ataxia - adult onset


Relevant disorders: Hereditary ataxia with onset in adulthood, R54
Version 1.211

Panel Types: GMS Rare Disease Virtual,

252 of 253
100%

STRs: 13
Regions: 4
6 reviewers Download

Hereditary ataxia and cerebellar anomalies - childhood onset


Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
Version 3.331

Panel Types: GMS Rare Disease Virtual, Super Panel,

688 of 1297
53%

STRs: 15
Regions: 6
22 reviewers Download

Hereditary Erythrocytosis


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

12 of 13
92%
3 reviewers Download

Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186
Version 1.51

Panel Types: Rare Disease 100K, GMS Rare Disease,

15 of 15
100%
7 reviewers Download

Hereditary neuropathy

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

Relevant disorders: Charcot-Marie-Tooth disease
Version 1.333

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

289 of 289
100%

STRs: 11
Regions: 2
16 reviewers Download

Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.205

Panel Types: Rare Disease 100K,

118 of 119
99%

STRs: 10
15 reviewers Download

Hereditary spastic paraplegia - adult onset

Version 0.155

Panel Types: GMS Rare Disease,

107 of 107
100%

STRs: 10
5 reviewers Download

Hereditary spastic paraplegia - childhood onset


Relevant disorders: Childhood onset hereditary spastic paraplegia
Version 1.178

Panel Types: GMS Rare Disease Virtual,

108 of 108
100%

STRs: 10
6 reviewers Download

Holoprosencephaly

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

Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly - NOT chromosomal
Version 1.22

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

18 of 18
100%
6 reviewers Download

Hydroa vacciniforme

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

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

3 of 3
100%
1 reviewer Download

Hydrocephalus


Relevant disorders: Hydrocephalus
Version 1.37

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

98 of 98
100%
7 reviewers Download

Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

106 of 106
100%
6 reviewers Download

Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Resistance to thyroid hormone, R182
Version 2.0

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

7 of 7
100%
4 reviewers Download

Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Hypertrophic Cardiomyopathy, HCM, R131
Version 1.74

Panel Types: Rare Disease 100K, GMS Rare Disease,

71 of 71
100%

STRs: 1
13 reviewers Download

Hypocalciuric hypercalcaemia


Relevant disorders: R152
Version 2.0

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

3 of 3
100%
2 reviewers Download

Hypogonadotropic hypogonadism

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

Relevant disorders: Kallmann syndrome, Kallmann syndrom, Idiopathic hypogonadotropic hypogonadism
Version 1.26

Panel Types: Rare Disease 100K,

46 of 46
100%
10 reviewers Download

Hypogonadotropic hypogonadism idiopathic


Relevant disorders: R148
Version 1.0

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

32 of 32
100%
2 reviewers Download

Hypophosphataemia or rickets


Relevant disorders: R154
Version 2.1

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

14 of 14
100%
3 reviewers Download

Hypotonic infant with a likely central cause


Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant
Version 3.794

Panel Types: GMS Rare Disease Virtual, Super Panel,

2654 of 3445
77%

STRs: 15
Regions: 63
43 reviewers Download

Ichthyosis and erythrokeratoderma

Version 0.10

Panel Types: GMS Rare Disease, Component Of Super Panel,

56 of 65
86%

Regions: 1
8 reviewers Download

Idiopathic ventricular fibrillation

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

Panel Types: Rare Disease 100K,

5 of 5
100%
2 reviewers Download

Inborn errors of metabolism


Relevant disorders: Likely inborn error of metabolism - targeted testing not possible
Version 1.277

Panel Types: GMS Rare Disease Virtual, Component Of Super Panel,

469 of 880
53%

STRs: 2
Regions: 1
14 reviewers Download

Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders: Infantile enterocolitis and monogenic inflammatory bowel disease
Version 1.16

Panel Types: Rare Disease 100K,

62 of 62
100%
7 reviewers Download

Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.3

Panel Types: Rare Disease 100K,

18 of 18
100%
5 reviewers Download

Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders

Relevant disorders: Inherited platelet disorders, Monogenic thrombophilia, Inherited bleeding and or platelet disorders, Unprovoked Thrombosis before 40, Monogenic venous thrombosis
Version 1.156

Panel Types: Rare Disease 100K,

113 of 119
95%
7 reviewers Download

Inherited MMR deficiency (Lynch syndrome)


Relevant disorders: R210
Version 1.0

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

5 of 5
100%
4 reviewers Download

Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

30 of 30
100%
4 reviewers Download

Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial ovarian cancer, R207
Version 2.0

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

9 of 26
35%
6 reviewers Download

Inherited pancreatic cancer


Relevant disorders: R367
Version 0.29

Panel Types: GMS Rare Disease,

11 of 11
100%
5 reviewers Download

Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Neuro-endocrine Tumours- PCC and PGL
Version 1.5

Panel Types: Rare Disease 100K,

20 of 20
100%
5 reviewers Download

Inherited phaeochromocytoma and paraganglioma excluding NF1


Relevant disorders: R223
Version 1.0

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

12 of 12
100%
5 reviewers Download

Inherited polyposis


Relevant disorders: R211, R209
Version 0.55

Panel Types: GMS Rare Disease,

17 of 17
100%
10 reviewers Download

Inherited predisposition to acute myeloid leukaemia (AML)


Relevant disorders: R347
Version 0.47

Panel Types: GMS Rare Disease,

14 of 14
100%
5 reviewers Download

Inherited predisposition to GIST


Relevant disorders: R363
Version 1.0

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

7 of 7
100%
5 reviewers Download

Inherited renal cancer


Relevant disorders: R224
Version 0.39

Panel Types: GMS Rare Disease,

16 of 16
100%
5 reviewers Download

Inherited white matter disorders

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

Relevant disorders: Leukodystrophy - adult onset
Version 1.71

Panel Types: Rare Disease 100K,

163 of 166
98%
10 reviewers Download

Insulin resistance (including lipodystrophy)

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

Relevant disorders: Insulin resistance (including lipodystrophy
Version 1.11

Panel Types: Rare Disease 100K,

26 of 26
100%
5 reviewers Download

Intellectual disability

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

Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing
Version 2.1036

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

2174 of 2313
94%

STRs: 11
Regions: 57
40 reviewers Download

Intestinal failure


Relevant disorders: R331
Version 1.0

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

11 of 11
100%
6 reviewers Download

Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.17

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

26 of 26
100%
8 reviewers Download

Iron metabolism disorders


Relevant disorders: R96
Version 0.54

Panel Types: GMS Rare Disease,

26 of 26
100%
6 reviewers Download

IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders

Relevant disorders:
Version 1.29

Panel Types: Rare Disease 100K,

108 of 115
94%

Regions: 5
12 reviewers Download

Juvenile dermatomyositis

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

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

0 of 5
0%
0 reviewers Download

Kabuki syndrome

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

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

4 of 4
100%
4 reviewers Download

Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

44 of 44
100%
3 reviewers Download

Kleine-Levin syndrome

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

Relevant disorders: Kleine-Levin syndrome and other inherited sleep disorders
Version 1.4

Panel Types: Rare Disease 100K,

12 of 12
100%
3 reviewers Download

Laterality disorders and isomerism


Relevant disorders: R139
Version 0.42

Panel Types: GMS Rare Disease,

56 of 56
100%
2 reviewers Download

Leber hereditary optic neuropathy


Relevant disorders: R42
Version 0.7

Panel Types: GMS Rare Disease,

3 of 3
100%
3 reviewers Download

Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.3

Panel Types: Rare Disease 100K,

16 of 16
100%
2 reviewers Download

Limb disorders

Version 1.58

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

232 of 234
99%
13 reviewers Download

Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.89

Panel Types: Rare Disease 100K, GMS Rare Disease,

84 of 84
100%
10 reviewers Download

Lipodystrophy - childhood onset


Relevant disorders: R158
Version 2.0

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

13 of 13
100%
8 reviewers Download

Lipoprotein lipase deficiency


Relevant disorders: R324
Version 1.0

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

10 of 10
100%
2 reviewers Download

Long QT syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Long QT, R127
Version 1.38

Panel Types: Rare Disease 100K, GMS Rare Disease,

20 of 20
100%
9 reviewers Download

Lung cancer pertinent cancer susceptibility

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

Relevant disorders: Lung
Version 1.0

Panel Types: Cancer Germline 100K,

0 of 0
0%
0 reviewers Download

Lysosomal storage disorder


Relevant disorders: R276
Version 1.0

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

51 of 51
100%
3 reviewers Download

Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.171

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

74 of 75
99%

Regions: 1
9 reviewers Download

Melanoma pertinent cancer susceptibility

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

Relevant disorders: Malignant Melanoma
Version 1.0

Panel Types: Cancer Germline 100K,

3 of 3
100%
2 reviewers Download

Membranoproliferative glomerulonephritis

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

Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, R197
Version 2.0

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

9 of 9
100%
6 reviewers Download

Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders

Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features
Version 1.485

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

467 of 470
99%

STRs: 2
Regions: 1
15 reviewers Download

Mitochondrial disorder with complex I deficiency


Relevant disorders: R353
Version 1.0

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

51 of 51
100%
6 reviewers Download

Mitochondrial disorder with complex II deficiency


Relevant disorders: R354
Version 1.0

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

8 of 8
100%
5 reviewers Download

Mitochondrial disorder with complex III deficiency


Relevant disorders: R355
Version 1.0

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

15 of 15
100%
5 reviewers Download

Mitochondrial disorder with complex IV deficiency


Relevant disorders: R356
Version 1.0

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

40 of 40
100%
8 reviewers Download

Mitochondrial disorder with complex V deficiency


Relevant disorders: R357
Version 1.0

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

19 of 19
100%
6 reviewers Download

Mitochondrial DNA maintenance disorder


Relevant disorders: R352
Version 1.0

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

27 of 27
100%
8 reviewers Download

Mitochondrial liver disease


Relevant disorders: R317
Version 1.0

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

11 of 11
100%
6 reviewers Download

Monogenic diabetes


Relevant disorders: R141
Version 2.1

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

74 of 78
95%

Regions: 1
7 reviewers Download

Monogenic nephrogenic diabetes insipidus


Relevant disorders: monogenic nephrogenic diabetes insipidus
Version 1.8

Panel Types: Rare Disease 100K,

5 of 5
100%
3 reviewers Download

Mosaic skin disorders - deep sequencing

Version 0.13

Panel Types: GMS Rare Disease, Component Of Super Panel,

38 of 39
97%
1 reviewer Download

Movement disorders - childhood onset


Relevant disorders: R57
Version 4.341

Panel Types: GMS Rare Disease Virtual, Super Panel,

556 of 1335
42%

STRs: 22
Regions: 5
22 reviewers Download

Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

18 of 18
100%
3 reviewers Download

Multi-organ autoimmune diabetes

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

Relevant disorders:
Version 1.7

Panel Types: Rare Disease 100K,

42 of 42
100%
2 reviewers Download

Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Multiple endocrine tumours, Multiple endocrine neoplasia type 1, Endocrine neoplasia
Version 1.9

Panel Types: Rare Disease 100K,

16 of 16
100%
6 reviewers Download

Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

11 of 11
100%
4 reviewers Download

Multiple lipomas


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

4 of 4
100%
1 reviewer Download

Multiple monogenic benign skin tumours

Version 0.10

Panel Types: GMS Rare Disease, Component Of Super Panel,

43 of 43
100%
2 reviewers Download

Myotonia congenita

Version 0.10

Panel Types: GMS Rare Disease,

7 of 7
100%
2 reviewers Download

Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.4

Panel Types: Rare Disease 100K,

90 of 91
99%

Regions: 1
11 reviewers Download

Neonatal erythroderma

Version 0.3

Panel Types: GMS Rare Disease, Component Of Super Panel,

0 of 0
0%
0 reviewers Download

Nephrocalcinosis or nephrolithiasis

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

Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis), R256
Version 1.18

Panel Types: Rare Disease 100K, GMS Rare Disease,

37 of 42
88%
6 reviewers Download

Neurodegenerative disorders - adult onset


Relevant disorders: R58
Version 1.106

Panel Types: GMS Rare Disease Virtual,

370 of 417
89%

STRs: 18
Regions: 4
8 reviewers Download

Neuroendocrine cancer pertinent cancer susceptibility

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

Relevant disorders: phaeochromocytoma, paraganglioma, carcinoid, Neuroendocrine
Version 1.0

Panel Types: Cancer Germline 100K,

12 of 12
100%
2 reviewers Download

Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders:
Version 1.26

Panel Types: Rare Disease 100K,

30 of 31
97%

Regions: 1
8 reviewers Download

Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 0.5

Panel Types: GMS Rare Disease Virtual, Component Of Super Panel,

56 of 56
100%
14 reviewers Download

Neurological segmental overgrowth

Version 0.5

Panel Types: Component Of Super Panel, GMS Rare Disease Virtual,

8 of 12
67%
3 reviewers Download

Neuromuscular arthrogryposis

Version 0.19

Panel Types: GMS Rare Disease, Component Of Super Panel,

40 of 40
100%
3 reviewers Download

Neuromuscular disorders


Relevant disorders: Other rare neuromuscular disorders
Version 1.9

Panel Types: GMS Rare Disease Virtual, Component Of Super Panel,

11 of 252
4%

STRs: 2
Regions: 5
4 reviewers Download

Neuronal ceroid lipofuscinosis


Relevant disorders: R231
Version 1.0

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

14 of 14
100%
2 reviewers Download

Neurotransmitter disorders

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

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

14 of 14
100%
2 reviewers Download

Non-acute porphyrias


Relevant disorders: R168
Version 1.0

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

9 of 9
100%
8 reviewers Download

Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

17 of 17
100%
2 reviewers Download

Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.5

Panel Types: Rare Disease 100K, Component Of Super Panel,

51 of 51
100%
2 reviewers Download

Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

11 of 11
100%
2 reviewers Download

Ocular and oculo-cutaneous albinism


Relevant disorders:
Version 1.21

Panel Types: Rare Disease 100K,

15 of 15
100%
8 reviewers Download

Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.34

Panel Types: Rare Disease 100K,

64 of 65
98%

Regions: 2
9 reviewers Download

Ophthalmological ciliopathies

Version 0.9

Panel Types: GMS Rare Disease Virtual, Component Of Super Panel,

88 of 88
100%
14 reviewers Download

Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Inherited optic neuropathies, R41, R42.2
Version 1.119

Panel Types: Rare Disease 100K, GMS Rare Disease,

48 of 48
100%
8 reviewers Download

Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Osteogenesis Imperfecta, R102
Version 2.0

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

184 of 184
100%
12 reviewers Download

Ovarian cancer pertinent cancer susceptibility

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

Relevant disorders: Ovarian
Version 1.0

Panel Types: Cancer Germline 100K,

8 of 8
100%
2 reviewers Download

Paediatric disorders


Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing
Version 4.45

Panel Types: GMS Rare Disease Virtual, Super Panel,

5723 of 6405
89%

STRs: 14
Regions: 71
55 reviewers Download

Paediatric disorders - additional genes

Version 0.30

Panel Types: GMS Rare Disease, Component Of Super Panel,

9 of 9
100%
9 reviewers Download

Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.23

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

40 of 45
89%

STRs: 1
Regions: 5
6 reviewers Download

Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: neuropathic pain, Pain channelopathies
Version 1.6

Panel Types: Rare Disease 100K,

26 of 26
100%
5 reviewers Download

Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.16

Panel Types: Rare Disease 100K,

45 of 45
100%
6 reviewers Download

Palmoplantar keratodermas

Version 0.9

Panel Types: GMS Rare Disease, Component Of Super Panel,

68 of 69
99%
2 reviewers Download

Pancreatitis


Relevant disorders: R175
Version 2.0

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

16 of 16
100%
6 reviewers Download

Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Parathyroid cancer
Version 1.3

Panel Types: Rare Disease 100K,

7 of 7
100%
3 reviewers Download

Parkinson Disease and Complex Parkinsonism

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

Relevant disorders: Complex Parkinsonism (includes pallido-pyramidal syndromes), Early onset and familial Parkinson's Disease
Version 1.66

Panel Types: Rare Disease 100K,

66 of 66
100%

STRs: 9
11 reviewers Download

Paroxysmal central nervous system disorders


Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders
Version 0.94

Panel Types: GMS Rare Disease,

88 of 88
100%

STRs: 5
Regions: 1
5 reviewers Download

Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

13 of 13
100%
3 reviewers Download

Periodic fever syndromes

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

Relevant disorders: Periodic fever syndromes and amyloidosis
Version 1.11

Panel Types: Rare Disease 100K,

30 of 30
100%
7 reviewers Download

Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders

Relevant disorders: Other peroxisomal disorders, Peroxisomal biogenesis disorders
Version 1.6

Panel Types: Rare Disease 100K,

37 of 37
100%
5 reviewers Download

PHACE(S) syndrome

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

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

6 of 6
100%
1 reviewer Download

Pigmentary skin disorders

Version 0.15

Panel Types: GMS Rare Disease, Component Of Super Panel,

103 of 103
100%

Regions: 1
4 reviewers Download

Pituitary hormone deficiency


Relevant disorders: R159
Version 2.0

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

41 of 50
82%
2 reviewers Download

Pityriasis rubra pilaris


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

1 of 1
100%
1 reviewer Download

Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax, R190
Version 1.17

Panel Types: Rare Disease 100K, GMS Rare Disease,

35 of 35
100%
6 reviewers Download

Polycystic liver disease interim


Relevant disorders: R173
Version 0.8

Panel Types: GMS Rare Disease,

20 of 20
100%
3 reviewers Download

Possible mitochondrial disorder - nuclear genes


Relevant disorders: R63
Version 1.12

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

374 of 374
100%
11 reviewers Download

Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders: Primary ciliary dyskinesia
Version 1.19

Panel Types: Rare Disease 100K,

140 of 140
100%
10 reviewers Download

Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders

Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136
Version 1.122

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

51 of 51
100%
8 reviewers Download

Primary ovarian insufficiency

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

Relevant disorders: Early onset familial premature ovarian insufficiency, Early onset familial premature ovarian failure
Version 1.16

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

57 of 57
100%

STRs: 1
7 reviewers Download

Primary pigmented nodular adrenocortical disease


Relevant disorders: R160
Version 1.0

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

4 of 4
100%
2 reviewers Download

Progressive cardiac conduction disease


Relevant disorders: R328
Version 0.28

Panel Types: GMS Rare Disease,

15 of 15
100%
5 reviewers Download

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,

5 of 5
100%
2 reviewers Download

Proteinuric renal disease

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

Relevant disorders: R195
Version 1.222

Panel Types: Rare Disease 100K, GMS Rare Disease,

95 of 95
100%
10 reviewers Download

Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders

Relevant disorders: PAH, R188
Version 1.48

Panel Types: Rare Disease 100K, GMS Rare Disease,

18 of 18
100%
5 reviewers Download

Pyruvate dehydrogenase (PDH) deficiency


Relevant disorders: R316
Version 1.0

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

26 of 26
100%
5 reviewers Download

Radial dysplasia

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

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

59 of 59
100%
8 reviewers Download

Rare anaemia


Relevant disorders: R92
Version 0.77

Panel Types: GMS Rare Disease,

94 of 94
100%
5 reviewers Download

Rare genetic inflammatory skin disorders

Version 0.14

Panel Types: GMS Rare Disease, Component Of Super Panel,

31 of 60
52%
3 reviewers Download

Rare multisystem ciliopathy disorders

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

Relevant disorders: Joubert syndrome, Bardet-Biedl Syndrome
Version 1.119

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

198 of 202
98%

Regions: 2
16 reviewers Download

RASopathies

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

Relevant disorders: Cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Legius syndrome, Noonan syndrome, Noonan syndrome plus other features
Version 1.55

Panel Types: Rare Disease 100K,

19 of 20
95%

Regions: 1
7 reviewers Download

Refuted genes


Relevant disorders:
Version 0.13

Panel Types: Reference,

5 of 5
100%
3 reviewers Download

Renal and urinary tract disorders

Version 1.18

Panel Types: GMS Rare Disease Virtual,

155 of 180
86%

Regions: 3
16 reviewers Download

Renal cancer pertinent cancer susceptibility

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

Relevant disorders: Renal
Version 1.1

Panel Types: Cancer Germline 100K,

10 of 10
100%
2 reviewers Download

Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.0

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

89 of 93
96%

Regions: 2
15 reviewers Download

Renal tubulopathies

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

Relevant disorders: Renal tubular acidosis, R198
Version 1.191

Panel Types: Rare Disease 100K, GMS Rare Disease,

55 of 55
100%
8 reviewers Download

Respiratory ciliopathies including non-CF bronchiectasis


Relevant disorders: R189
Version 0.154

Panel Types: GMS Rare Disease,

61 of 61
100%
10 reviewers Download

Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Posterior segment abnormalities, Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy, R32, R33, R34, R35
Version 1.161

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

320 of 320
100%
19 reviewers Download

Rhabdoid tumour predisposition


Relevant disorders: R358
Version 1.0

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

2 of 2
100%
3 reviewers Download

Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.28

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

55 of 55
100%
5 reviewers Download

Sarcoma cancer susceptibility

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

Relevant disorders: Sarcoma;Sarcoma pertinent cancer susceptibility
Version 1.14

Panel Types: Cancer Germline 100K,

33 of 33
100%
8 reviewers Download

Sarcoma susceptibility

Version 0.10

Panel Types: GMS Cancer Germline Virtual,

42 of 42
100%
9 reviewers Download

Segmental overgrowth disorders


Relevant disorders: Regional overgrowth disorders
Version 1.8

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

10 of 14
71%
4 reviewers Download

Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders

Relevant disorders: Significant early-onset obesity with or without other endocrine features and short stature, Significant early-onset obesity +/- other endocrine features and short stature, R149
Version 1.25

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

42 of 42
100%

Regions: 3
7 reviewers Download

Severe familial anorexia

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

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

1 of 1
100%
1 reviewer Download

Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

8 of 8
100%
3 reviewers Download

Severe microcephaly

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

Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly
Version 1.72

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual,

127 of 127
100%

Regions: 5
10 reviewers Download

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,

5 of 8
62%
3 reviewers Download

Short QT syndrome


Relevant disorders: R130
Version 1.20

Panel Types: Rare Disease 100K, GMS Rare Disease,

38 of 40
95%
10 reviewers Download

Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders

Relevant disorders: Silver-Russell syndrome
Version 1.3

Panel Types: Rare Disease 100K,

5 of 7
71%
3 reviewers Download

Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 0.13

Panel Types: GMS Rare Disease Virtual, Component Of Super Panel,

58 of 58
100%
12 reviewers Download

Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia
Version 1.202

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

445 of 553
80%

STRs: 1
Regions: 6
12 reviewers Download

Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

22 of 22
100%

STRs: 2
6 reviewers Download

Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R45
Version 2.0

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

10 of 10
100%
5 reviewers Download

Structural basal ganglia disorders

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

Relevant disorders:
Version 1.17

Panel Types: Rare Disease 100K,

77 of 77
100%

STRs: 1
7 reviewers Download

Structural eye disease


Relevant disorders: R36
Version 0.88

Panel Types: GMS Rare Disease,

456 of 457
100%

Regions: 2
6 reviewers Download

Sudden cardiac death


Relevant disorders: Molecular autopsy, R138
Version 0.9

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease,

118 of 118
100%
4 reviewers Download

Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Unexplained sudden death in the young
Version 1.12

Panel Types: Rare Disease 100K,

34 of 35
97%
7 reviewers Download

Surfactant deficiency


Relevant disorders: R192
Version 0.28

Panel Types: GMS Rare Disease,

8 of 8
100%
3 reviewers Download

Testicular cancer pertinent cancer susceptibility

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

Relevant disorders: Testicular Germ Cell Tumours
Version 1.0

Panel Types: Cancer Germline 100K,

0 of 0
0%
0 reviewers Download

Thoracic aortic aneurysm and dissection


Relevant disorders: R125
Version 0.30

Panel Types: GMS Rare Disease Virtual,

62 of 62
100%
18 reviewers Download

Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial retinal arteriolar tortuosity, FTAAD, Familial Thoracic Aortic Aneurysm Disease
Version 1.93

Panel Types: Rare Disease 100K,

63 of 63
100%
17 reviewers Download

Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.7

Panel Types: Rare Disease 100K,

134 of 134
100%

STRs: 1
7 reviewers Download

Thrombophilia


Relevant disorders: R97
Version 0.40

Panel Types: GMS Rare Disease,

20 of 20
100%
6 reviewers Download

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,

2 of 5
40%
1 reviewer Download

Tubulointerstitial kidney disease


Relevant disorders: R202
Version 1.0

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

25 of 25
100%
3 reviewers Download

Tumour predisposition - adult onset

Version 1.1

Panel Types: GMS Rare Disease Virtual,

0 of 65
0%

Regions: 2
0 reviewers Download

Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes

Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndrome, Paediatric congenital malformation-dysmorphism-tumour syndromes, Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome, R359
Version 1.36

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

107 of 114
94%

Regions: 1
12 reviewers Download

Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Undiagnosed Metabolic Panel
Version 1.307

Panel Types: Rare Disease 100K,

423 of 740
57%

STRs: 1
Regions: 1
12 reviewers Download

Unexplained kidney failure in young people

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

Relevant disorders: Familial IgA nephropathy and IgA vasculitis, End-stage renal disease - childhood onset
Version 1.73

Panel Types: Rare Disease 100K,

83 of 169
49%

Regions: 3
7 reviewers Download

Unexplained paediatric onset end-stage renal disease


Relevant disorders: R257
Version 0.38

Panel Types: GMS Rare Disease Virtual,

184 of 184
100%

Regions: 3
16 reviewers Download

Upper gastrointestinal cancer pertinent cancer susceptibility

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

Relevant disorders: Hepatopancreatobiliary, Upper Gastrointestinal
Version 1.0

Panel Types: Cancer Germline 100K,

4 of 4
100%
2 reviewers Download

VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

Panel Types: Rare Disease 100K, Component Of Super Panel,

58 of 58
100%
7 reviewers Download

Vascular skin disorders

Version 0.13

Panel Types: GMS Rare Disease, Component Of Super Panel,

28 of 34
82%
2 reviewers Download

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,

12 of 12
100%
4 reviewers Download

White matter disorders - adult onset


Relevant disorders: R62
Version 0.21

Panel Types: GMS Rare Disease,

77 of 77
100%
4 reviewers Download

White matter disorders and cerebral calcification - narrow panel

Version 1.9

Panel Types: GMS Rare Disease, Component Of Super Panel,

3 of 191
2%
2 reviewers Download

White matter disorders - childhood onset


Relevant disorders: Childhood onset leukodystrophy, R109
Version 3.1224

Panel Types: GMS Rare Disease Virtual, Super Panel,

3113 of 3854
81%

STRs: 15
Regions: 59
43 reviewers Download

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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

Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders
Version 1.8

Panel Types: Rare Disease 100K, GMS Rare Disease,

17 of 17
100%
6 reviewers Download