450 panels

Panel Evaluated genes Reviewers Actions
450 panels

Acute intermittent porphyria


Relevant disorders: R169
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v1.7 (31 May 2023)
66 of 66
100%
4 reviewers Download

Additional findings health related

Version 0.114

Panel Types: Additional Findings,

14 of 14
100%
2 reviewers Download

Additional findings health related - adults

Version 2.2

Panel Types: Super Panel, Additional Findings,

0 of 13
0%
0 reviewers Download

Additional findings health related - adult specific

Version 1.2

Panel Types: Component Of Super Panel, Additional Findings,

0 of 6
0%
0 reviewers Download

Additional findings health related - children

Version 1.0

Panel Types: Component Of Super Panel, Additional Findings,

0 of 7
0%
0 reviewers Download

Additional findings health related - CNV analysis adults

Version 2.2

Panel Types: Super Panel, Additional Findings,

0 of 10
0%
0 reviewers Download

Additional findings health related - CNV analysis adult specific

Version 1.2

Panel Types: Component Of Super Panel, Additional Findings,

0 of 6
0%
0 reviewers Download

Additional findings health related - CNV analysis children

Version 1.0

Panel Types: Component Of Super Panel, Additional Findings,

0 of 4
0%
0 reviewers Download

Additional findings reproductive carrier status

Version 1.0

Panel Types: Additional Findings,

0 of 1
0%
0 reviewers Download

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,

Latest signed off version: v3.12 (31 Jul 2023)
218 of 218
100%

STRs: 11
Regions: 1
11 reviewers Download

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,

Latest signed off version: v3.14 (31 Jul 2023)
117 of 117
100%

STRs: 10
16 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
98 of 98
100%
12 reviewers Download

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,

Latest signed off version: v4.34 (31 Jul 2023)
387 of 433
89%

STRs: 16
Regions: 4
21 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 2.27

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

Latest signed off version: v2.2 (18 Feb 2020)
99 of 105
94%
6 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 1.37

Panel Types: Rare Disease 100K,

59 of 59
100%

Regions: 1
8 reviewers Download

Agammaglobulinaemia with absent BTK expression


Relevant disorders: R233
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Albinism or congenital nystagmus


Relevant disorders: R39
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
26 of 47
55%
8 reviewers Download

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


Relevant disorders: R293
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
3 of 3
100%
1 reviewer Download

Alstrom syndrome


Relevant disorders: R106
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Alveolar capillary dysplasia with misalignment of pulmonary veins


Relevant disorders: R330
Version 1.2

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
40 of 40
100%
9 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 1.67

Panel Types: Rare Disease 100K,

42 of 42
100%

STRs: 4
14 reviewers Download

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,

63 of 63
100%
13 reviewers Download

APC associated Polyposis


Relevant disorders: R414
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v3.5 (22 Mar 2023)
20 of 20
100%
13 reviewers Download

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,

Latest signed off version: v5.0 (22 Mar 2023)
280 of 297
94%
24 reviewers Download

Ataxia and cerebellar anomalies - narrow panel

Version 4.40

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

Latest signed off version: v4.0 (22 Mar 2023)
158 of 309
51%

STRs: 14
Regions: 4
25 reviewers Download

Ataxia telangiectasia - mutation testing


Relevant disorders: R295
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
15 of 15
100%
8 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 1.9

Panel Types: Rare Disease 100K,

8 of 8
100%
5 reviewers Download

Autism

Version 0.36

Panel Types: Research,

735 of 735
100%
12 reviewers Download

Autoimmune lymphoproliferative syndrome with defective apoptosis


Relevant disorders: R19
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Autoimmune Polyendocrine Syndrome


Relevant disorders: R155
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v1.0 (30 Nov 2022)
29 of 29
100%
3 reviewers Download

Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders

Relevant disorders:
Version 1.14

Panel Types: Rare Disease 100K,

16 of 16
100%

Regions: 1
5 reviewers Download

Autosomal recessive primary hypertrophic osteoarthropathy


Relevant disorders: R167
Version 1.12

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

Latest signed off version: v1.5 (11 Nov 2020)
3 of 3
100%
1 reviewer Download

BAP1 associated tumour predisposition syndrome


Relevant disorders: R422
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Bardet Biedl syndrome


Relevant disorders: R107
Version 2.4

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

Latest signed off version: v2.0 (30 Nov 2022)
24 of 24
100%
13 reviewers Download

Barth syndrome


Relevant disorders: R391
Version 1.2

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
2 reviewers Download

Beckwith-Wiedemann syndrome


Relevant disorders: R49.3
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 1.120

Panel Types: Rare Disease 100K,

31 of 31
100%

Regions: 1
10 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
201 of 201
100%
18 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 3.7

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

Latest signed off version: v3.0 (22 Mar 2023)
116 of 116
100%
14 reviewers Download

Blepharophimosis ptosis and epicanthus inversus


Relevant disorders: R43
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v1.0 (29 Sep 2021)
7 of 7
100%
2 reviewers Download

Brain channelopathy

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

Panel Types: Rare Disease 100K,

32 of 32
100%

STRs: 5
Regions: 1
9 reviewers Download

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,

Latest signed off version: v2.0 (22 Mar 2023)
7 of 7
100%
6 reviewers Download

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,

Latest signed off version: v3.2 (22 Mar 2023)
23 of 23
100%
11 reviewers Download

CADASIL


Relevant disorders: R337
Version 1.2

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 1.173

Panel Types: Rare Disease 100K,

102 of 102
100%

Regions: 1
20 reviewers Download

Calcium-sensing receptor phenotypes


Relevant disorders: R319
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Cardiac arrhythmias


Relevant disorders: Cardiac arrythmias
Version 13.27

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

Latest signed off version: v13.4 (22 Mar 2023)
98 of 100
98%
21 reviewers Download

Cardiac arrhythmias - additional genes

Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
4 of 4
100%
5 reviewers Download

Carney complex


Relevant disorders: R156
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
10 of 10
100%
9 reviewers Download

CDH1-related cancer syndrome


Relevant disorders: R215
Version 1.5

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

Latest signed off version: v1.0 (22 Mar 2023)
2 of 2
100%
3 reviewers Download

Central congenital hypoventilation


Relevant disorders: R333
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 1.73

Panel Types: Rare Disease 100K,

75 of 76
99%
16 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 malformation


Relevant disorders: Cerebral malformations, R87
Version 10.20

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

Latest signed off version: v10.1 (22 Mar 2023)
158 of 162
98%

Regions: 1
23 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, R336
Version 3.8

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

Latest signed off version: v3.0 (22 Mar 2023)
104 of 104
100%
10 reviewers Download

CHARGE syndrome

Version 0.11

1 of 1
100%
10 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
980 of 980
100%

STRs: 5
19 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
156 of 156
100%

STRs: 10
Regions: 1
23 reviewers Download

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,

Latest signed off version: v14.2 (22 Mar 2023)
4016 of 4380
92%

STRs: 17
Regions: 64
73 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
114 of 120
95%

Regions: 1
16 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 1.25

Panel Types: Cancer Germline 100K,

76 of 85
89%
7 reviewers Download

Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders

Relevant disorders:
Version 1.16

Panel Types: Rare Disease 100K,

14 of 14
100%
5 reviewers Download

Cholestasis


Relevant disorders: R171
Version 3.4

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

Latest signed off version: v3.0 (22 Mar 2023)
78 of 78
100%
19 reviewers Download

Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.5

Panel Types: Rare Disease 100K,

6 of 6
100%
5 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 4.102

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

Latest signed off version: v4.0 (22 Mar 2023)
301 of 311
97%

Regions: 6
20 reviewers Download

Cleidocranial Dysplasia


Relevant disorders: R415
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Version 0.11

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 1.10

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

Latest signed off version: v1.2 (3 Mar 2020)
2 of 2
100%
5 reviewers Download

Combined vitamin K-dependent clotting factor deficiency


Relevant disorders: R123
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Common craniosynostosis syndromes


Relevant disorders: R99
Version 1.15

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

Latest signed off version: v1.2 (13 Feb 2020)
7 of 7
100%
1 reviewer Download

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,

Latest signed off version: v2.0 (22 Mar 2023)
23 of 23
100%
7 reviewers Download

Congenital adrenal hyperplasia diagnostic test


Relevant disorders: R180
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v3.0 (30 Nov 2022)
23 of 23
100%
12 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
117 of 117
100%
10 reviewers Download

Congenital fibrosis of the extraocular muscles


Relevant disorders: R46
Version 1.16

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

Latest signed off version: v1.2 (3 Mar 2020)
7 of 7
100%
8 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
24 of 24
100%
10 reviewers Download

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,

Latest signed off version: v2.2 (25 Feb 2020)
37 of 37
100%

Regions: 2
10 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
61 of 61
100%

STRs: 1
16 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
35 of 35
100%
10 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
128 of 128
100%

STRs: 2
Regions: 3
17 reviewers Download

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,

42 of 42
100%
6 reviewers Download

Corneal dystrophy


Relevant disorders: Corneal dystrophies, R262
Version 3.9

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

Latest signed off version: v3.2 (22 Mar 2023)
24 of 24
100%
7 reviewers Download

COVID-19 research

Level 2: Viral research

Relevant disorders: Viral susceptibility
Version 1.140

Panel Types: Research,

695 of 697
100%

Regions: 2
26 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


Relevant disorders: R237
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
12 of 12
100%
8 reviewers Download

Cystic fibrosis diagnostic test


Relevant disorders: R184
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 4.19

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

Latest signed off version: v4.0 (22 Mar 2023)
74 of 74
100%

Regions: 2
17 reviewers Download

Cystic renal disease


Relevant disorders: Cystic renal disease - PKD1, R193
Version 7.27

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

Latest signed off version: v7.1 (22 Mar 2023)
175 of 177
99%

Regions: 4
28 reviewers Download

Cystinosis


Relevant disorders: R334
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Cytopenia - NOT Fanconi anaemia


Relevant disorders: R91
Version 3.20

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

Latest signed off version: v3.0 (22 Mar 2023)
135 of 135
100%
14 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 1.112

Panel Types: Rare Disease 100K,

223 of 223
100%
18 reviewers Download

DDG2P

Version 3.78

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

Latest signed off version: v3.1 (22 Mar 2023)
2350 of 2350
100%

STRs: 1
16 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 1.22

Panel Types: Rare Disease 100K,

57 of 57
100%

Regions: 3
10 reviewers Download

Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

Relevant disorders:
Version 1.67

Panel Types: Rare Disease 100K,

65 of 65
100%

Regions: 1
9 reviewers Download

DICER1-related cancer predisposition


Relevant disorders: R364
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v2.8 (22 Mar 2023)
63 of 63
100%
19 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 1.83

Panel Types: Rare Disease 100K,

85 of 85
100%
16 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
69 of 69
100%

Regions: 2
12 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
33 of 33
100%

STRs: 2
11 reviewers Download

Duchenne or Becker muscular dystrophy


Relevant disorders: R73
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Ductal plate malformation


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

Panel Types: Rare Disease 100K,

60 of 151
40%
7 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 1.83

Panel Types: Rare Disease 100K,

42 of 42
100%

STRs: 9
12 reviewers Download

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,

77 of 117
66%

STRs: 4
22 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
833 of 833
100%

STRs: 2
Regions: 17
55 reviewers Download

Ectodermal dysplasia


Relevant disorders: R163
Version 3.22

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

Latest signed off version: v3.0 (22 Mar 2023)
83 of 83
100%
19 reviewers Download

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,

30 of 30
100%
6 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
80 of 80
100%
19 reviewers Download

Elastin-related phenotypes


Relevant disorders: R140
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Endocrine neoplasia


Relevant disorders: Endocrine neoplasms, R217
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
14 of 14
100%
8 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


Relevant disorders: R255
Version 1.6

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

Latest signed off version: v1.3 (15 Oct 2020)
7 of 7
100%
2 reviewers Download

Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.11

Panel Types: Rare Disease 100K,

21 of 21
100%
4 reviewers Download

Epidermolysis bullosa and congenital skin fragility


Relevant disorders: R164
Version 2.7

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

Latest signed off version: v2.2 (22 Mar 2023)
47 of 47
100%
10 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,

3 of 3
100%
3 reviewers Download

Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Panel Types: Rare Disease 100K,

27 of 27
100%
9 reviewers Download

Fabry disease


Relevant disorders: R335
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Facioscapulohumeral muscular dystrophy - extended testing


Relevant disorders: R345
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor II deficiency


Relevant disorders: R112
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor IX deficiency


Relevant disorders: R118
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor V deficiency


Relevant disorders: R115
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor VII deficiency


Relevant disorders: R116
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor VIII deficiency


Relevant disorders: R117
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor X deficiency


Relevant disorders: R119
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor XI deficiency


Relevant disorders: R120
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Factor XIII deficiency


Relevant disorders: R122
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

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,

27 of 27
100%
7 reviewers Download

Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.16

Panel Types: Rare Disease 100K,

17 of 17
100%
8 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
10 of 10
100%
5 reviewers Download

Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.5

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 1.67

Panel Types: Rare Disease 100K,

56 of 57
98%

Regions: 1
9 reviewers Download

Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

7 of 7
100%
3 reviewers Download

Familial dysalbuminaemic hyperthyroxinaemia


Relevant disorders: R329
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Familial dysautonomia

Version 1.17

Panel Types: Rare Disease 100K,

23 of 23
100%
9 reviewers Download

Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.3

Panel Types: Rare Disease 100K,

11 of 11
100%
2 reviewers Download

Familial Hirschsprung Disease

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

Panel Types: Rare Disease 100K,

63 of 63
100%
8 reviewers Download

Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia
Version 1.30

Panel Types: Rare Disease 100K,

43 of 43
100%
8 reviewers Download

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,

Latest signed off version: v2.0 (22 Mar 2023)
6 of 6
100%
10 reviewers Download

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,

Latest signed off version: v3.2 (30 Nov 2022)
11 of 11
100%
4 reviewers Download

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,

Latest signed off version: v2.2 (25 Feb 2020)
10 of 10
100%
5 reviewers Download

Familial melanoma


Relevant disorders: R254
Version 2.3

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

Latest signed off version: v2.0 (30 Nov 2022)
8 of 8
100%
6 reviewers Download

Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

Panel Types: Rare Disease 100K,

22 of 130
17%
5 reviewers Download

Familial Neural Tube Defects

Version 1.10

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 1.80

Panel Types: Rare Disease 100K,

60 of 60
100%

Regions: 8
16 reviewers Download

Familial prostate cancer


Relevant disorders:
Version 1.3

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 1.30

Panel Types: Rare Disease 100K,

75 of 75
100%
12 reviewers Download

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,

18 of 18
100%
2 reviewers Download

Familial tumoral calcinosis


Relevant disorders: R162
Version 1.10

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

Latest signed off version: v1.2 (19 Feb 2020)
4 of 4
100%
2 reviewers Download

Familial tumours of the nervous system


Relevant disorders: R221
Version 1.3

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

Latest signed off version: v1.0 (14 Sep 2023)
6 of 7
86%
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 1.14

Panel Types: Rare Disease 100K,

15 of 22
68%

Regions: 1
3 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
1990 of 1990
100%

STRs: 2
Regions: 1
26 reviewers Download

Fetal hydrops

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

Relevant disorders:
Version 1.61

Panel Types: Rare Disease 100K,

92 of 92
100%

STRs: 1
12 reviewers Download

Fuchs endothelial corneal dystrophy type 3


Relevant disorders: R439
Version 1.3

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

Latest signed off version: v1.0 (22 Mar 2023)
1 of 1
100%
1 reviewer Download

Fumarate hydratase-related tumour syndromes


Relevant disorders: R365
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders:
Version 1.73

Panel Types: Rare Disease 100K,

65 of 83
78%
11 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 1.23

Panel Types: Rare Disease 100K,

31 of 31
100%

STRs: 1
11 reviewers Download

Gaucher disease


Relevant disorders: R272
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
2 reviewers Download

Generalised arterial calcification in infancy


Relevant disorders: R384
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.12

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 0.9

Panel Types: Actionable,

21 of 21
100%
1 reviewer Download

Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes

Relevant disorders:
Version 1.10

Panel Types: Rare Disease 100K,

10 of 13
77%
6 reviewers Download

Genomic imprinting

Version 0.149

Panel Types: Research,

129 of 230
56%
5 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 1.22

Panel Types: Rare Disease 100K,

31 of 31
100%
12 reviewers Download

Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.42

Panel Types: Rare Disease 100K,

232 of 232
100%
11 reviewers Download

Glucokinase-related fasting hyperglycaemia


Relevant disorders: R142
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Glutaric acidaemia I


Relevant disorders: R275
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Glycogen storage disease


Relevant disorders: R274
Version 2.3

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

Latest signed off version: v2.0 (22 Mar 2023)
29 of 29
100%
6 reviewers Download

Glycogen storage disease V


Relevant disorders: R273
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB


Relevant disorders: R288
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 3.6

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

Latest signed off version: v3.0 (22 Mar 2023)
149 of 166
90%

Regions: 5
14 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 4.4

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

Latest signed off version: v4.0 (22 Mar 2023)
108 of 108
100%
11 reviewers Download

Haematological malignancies for rare disease

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

Panel Types: Rare Disease 100K,

89 of 89
100%
7 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 2.13

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

Latest signed off version: v2.4 (15 Oct 2020)
8 of 8
100%
6 reviewers Download

Haemoglobinopathy trait or carrier testing


Relevant disorders: R361
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Haemophagocytic syndrome with absent perforin expression


Relevant disorders: R232
Version 1.2

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Haemophagocytic syndrome with absent XIAP expression


Relevant disorders: R18
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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

Hereditary alpha tryptasaemia


Relevant disorders: R436
Version 1.3

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

Latest signed off version: v1.0 (22 Mar 2023)
1 of 1
100%
1 reviewer Download

Hereditary angioedema types I and II


Relevant disorders: R341
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

184 of 184
100%

STRs: 14
Regions: 3
22 reviewers Download

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,

Latest signed off version: v12.1 (22 Mar 2023)
340 of 491
69%

STRs: 14
Regions: 4
37 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
265 of 266
100%

STRs: 15
Regions: 4
19 reviewers Download

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,

Latest signed off version: v2.0 (22 Mar 2023)
17 of 17
100%
8 reviewers Download

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,

Latest signed off version: v3.0 (30 Nov 2022)
15 of 15
100%
12 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 1.472

Panel Types: Rare Disease 100K,

297 of 297
100%

STRs: 11
Regions: 2
26 reviewers Download

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,

Latest signed off version: v3.24 (15 May 2023)
311 of 311
100%

STRs: 1
Regions: 2
30 reviewers Download

Hereditary spastic paraplegia

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

Panel Types: Rare Disease 100K,

124 of 125
99%

STRs: 10
22 reviewers Download

Hereditary systemic amyloidosis


Relevant disorders: Amyloidosis, R204
Version 1.21

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

Latest signed off version: v1.18 (22 Mar 2023)
11 of 11
100%
6 reviewers Download

Hirschsprung disease


Relevant disorders: R177
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
25 of 25
100%
12 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, R86
Version 4.3

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

Latest signed off version: v4.0 (22 Mar 2023)
108 of 108
100%
12 reviewers Download

Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.21

Panel Types: Rare Disease 100K,

106 of 106
100%
8 reviewers Download

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,

Latest signed off version: v3.0 (30 Nov 2022)
8 of 8
100%
7 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
77 of 77
100%

STRs: 1
22 reviewers Download

Hypogonadotropic hypogonadism

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

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

Panel Types: Rare Disease 100K,

47 of 47
100%
14 reviewers Download

Hypogonadotropic hypogonadism (GMS)


Relevant disorders: Hypogonadotropic hypogonadism idiopathic, R148
Version 3.14

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

Latest signed off version: v3.0 (22 Mar 2023)
47 of 47
100%
14 reviewers Download

Hypophosphataemia or rickets


Relevant disorders: R154
Version 3.4

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

Latest signed off version: v3.0 (30 Nov 2022)
18 of 18
100%
5 reviewers Download

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,

Latest signed off version: v25.1 (22 Mar 2023)
3914 of 4123
95%

STRs: 22
Regions: 71
89 reviewers Download

Ichthyosis and erythrokeratoderma


Relevant disorders: R165
Version 3.19

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

Latest signed off version: v3.2 (22 Mar 2023)
77 of 77
100%

Regions: 1
17 reviewers Download

Idiopathic ventricular fibrillation

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

Panel Types: Rare Disease 100K,

5 of 5
100%
2 reviewers Download

Incontinentia pigmenti


Relevant disorders: R239
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 1.39

Panel Types: Rare Disease 100K,

69 of 69
100%
11 reviewers Download

Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.10

Panel Types: Rare Disease 100K,

19 of 19
100%
8 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 1.175

Panel Types: Rare Disease 100K,

113 of 119
95%
8 reviewers Download

Inherited breast cancer and ovarian cancer


Relevant disorders: R208
Version 2.11

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

Latest signed off version: v2.5 (12 Apr 2023)
7 of 7
100%
6 reviewers Download

Inherited MMR deficiency (Lynch syndrome)


Relevant disorders: R210
Version 1.12

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

Latest signed off version: v1.2 (4 Mar 2020)
5 of 5
100%
4 reviewers Download

Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders:
Version 1.7

Panel Types: Rare Disease 100K,

30 of 30
100%
6 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
10 of 26
38%
9 reviewers Download

Inherited pancreatic cancer


Relevant disorders: R367
Version 2.3

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

Latest signed off version: v2.0 (30 Nov 2022)
12 of 12
100%
6 reviewers Download

Inherited parathyroid cancer


Relevant disorders: R226
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

20 of 20
100%
5 reviewers Download

Inherited phaeochromocytoma and paraganglioma excluding NF1


Relevant disorders: R223
Version 2.6

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

Latest signed off version: v2.0 (30 Nov 2022)
17 of 17
100%
6 reviewers Download

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,

Latest signed off version: v2.0 (30 Nov 2022)
19 of 19
100%
13 reviewers Download

Inherited predisposition to acute myeloid leukaemia (AML)


Relevant disorders: R347
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
16 of 16
100%
8 reviewers Download

Inherited predisposition to GIST


Relevant disorders: R363
Version 1.13

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

Latest signed off version: v1.2 (4 Mar 2020)
7 of 7
100%
6 reviewers Download

Inherited prostate cancer


Relevant disorders: R430
Version 1.4

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

Latest signed off version: v1.0 (22 Mar 2023)
8 of 8
100%
1 reviewer Download

Inherited renal cancer


Relevant disorders: R224
Version 1.26

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

Latest signed off version: v1.2 (4 Mar 2020)
18 of 18
100%
8 reviewers Download

Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)


Relevant disorders: R366
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

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,

171 of 174
98%
13 reviewers Download

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,

26 of 26
100%
6 reviewers Download

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,

Latest signed off version: v5.0 (22 Mar 2023)
2664 of 2734
97%

STRs: 12
Regions: 62
66 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
47 of 47
100%
11 reviewers Download

Intracerebral calcification disorders

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

Panel Types: Rare Disease 100K,

33 of 33
100%
12 reviewers Download

IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked


Relevant disorders: R157
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v2.0 (22 Mar 2023)
26 of 26
100%
10 reviewers Download

IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders

Relevant disorders:
Version 1.58

Panel Types: Rare Disease 100K,

115 of 117
98%

Regions: 5
16 reviewers Download

Juvenile dermatomyositis

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

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 1.5

Panel Types: Rare Disease 100K,

5 of 5
100%
6 reviewers Download

Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

45 of 45
100%
5 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 1.7

Panel Types: Rare Disease 100K,

13 of 13
100%
4 reviewers Download

Krabbe disease - GALC deficiency


Relevant disorders: R280
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Krabbe disease - Saposin A deficiency


Relevant disorders: R281
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Laterality disorders and isomerism


Relevant disorders: R139
Version 3.7

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

Latest signed off version: v3.0 (22 Mar 2023)
65 of 65
100%
10 reviewers Download

Leber hereditary optic neuropathy


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

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

Latest signed off version: v2.5 (22 Mar 2023)
5 of 5
100%
8 reviewers Download

Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

16 of 16
100%
3 reviewers Download

Li Fraumeni Syndrome


Relevant disorders: R216
Version 1.3

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

Latest signed off version: v1.0 (22 Mar 2023)
2 of 2
100%
2 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
781 of 920
85%

STRs: 3
Regions: 1
26 reviewers Download

Limb disorders

Version 4.13

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

Latest signed off version: v4.0 (22 Mar 2023)
259 of 261
99%

Regions: 2
21 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
97 of 97
100%
23 reviewers Download

Lipodystrophy - childhood onset


Relevant disorders: R158
Version 4.50

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

Latest signed off version: v4.0 (22 Mar 2023)
32 of 32
100%
12 reviewers Download

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,

Latest signed off version: v3.1 (22 Mar 2023)
23 of 23
100%
14 reviewers Download

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,

0 of 0
0%
0 reviewers Download

Lymphoproliferative syndrome with absent SAP expression


Relevant disorders: R17
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Lysosomal acid lipase deficiency


Relevant disorders: R325
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Lysosomal storage disorder


Relevant disorders: R276
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
56 of 56
100%
7 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
125 of 125
100%

Regions: 1
20 reviewers Download

Malignant hyperthermia


Relevant disorders: R371
Version 1.3

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

Latest signed off version: v1.0 (30 Nov 2022)
3 of 3
100%
1 reviewer Download

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


Relevant disorders: R403
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 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,

Latest signed off version: v3.0 (22 Mar 2023)
9 of 9
100%
11 reviewers Download

Mitochondrial Complex V deficiency, TMEM70 type


Relevant disorders: R396
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders

Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features
Version 4.113

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

Latest signed off version: v4.0 (22 Mar 2023)
481 of 483
100%

STRs: 2
Regions: 1
20 reviewers Download

Mitochondrial disorder with complex I deficiency


Relevant disorders: R353
Version 3.7

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

Latest signed off version: v3.0 (22 Mar 2023)
51 of 51
100%
8 reviewers Download

Mitochondrial disorder with complex II deficiency


Relevant disorders: R354
Version 2.8

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

Latest signed off version: v2.2 (22 Mar 2023)
8 of 8
100%
7 reviewers Download

Mitochondrial disorder with complex III deficiency


Relevant disorders: R355
Version 2.5

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

Latest signed off version: v2.0 (22 Mar 2023)
15 of 15
100%
7 reviewers Download

Mitochondrial disorder with complex IV deficiency


Relevant disorders: R356
Version 3.4

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

Latest signed off version: v3.0 (22 Mar 2023)
41 of 41
100%
10 reviewers Download

Mitochondrial disorder with complex V deficiency


Relevant disorders: R357
Version 2.12

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

Latest signed off version: v2.0 (22 Mar 2023)
19 of 19
100%
8 reviewers Download

Mitochondrial DNA maintenance disorder


Relevant disorders: R352
Version 3.6

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

Latest signed off version: v3.0 (22 Mar 2023)
28 of 28
100%
11 reviewers Download

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,

Latest signed off version: v1.9 (22 Mar 2023)
11 of 11
100%
6 reviewers Download

Mitochondrial neurogastrointestinal encephalopathy


Relevant disorders: R394
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Monitoring for G(M)CSF escape mutations


Relevant disorders: R338
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Monogenic diabetes


Relevant disorders: R141
Version 2.53

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

Latest signed off version: v2.2 (25 Feb 2020)
75 of 79
95%

Regions: 1
10 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
420 of 420
100%

Regions: 1
25 reviewers Download

Monogenic nephrogenic diabetes insipidus


Relevant disorders: monogenic nephrogenic diabetes insipidus
Version 1.11

Panel Types: Rare Disease 100K,

5 of 5
100%
4 reviewers Download

Mosaic brain disorders - deep sequencing


Relevant disorders: R429
Version 0.141

Panel Types: GMS Rare Disease,

22 of 22
100%
5 reviewers Download

Mosaic skin disorders - deep sequencing


Relevant disorders: R327
Version 2.41

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

Latest signed off version: v2.0 (30 Nov 2022)
57 of 57
100%
6 reviewers Download

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,

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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

Mucopolysaccharidosis type IH or S


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

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Mucopolysaccharidosis type II


Relevant disorders: R278
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Mucopolysaccharidosis type IIIA


Relevant disorders: R291
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Mucopolysaccharidosis type IIIB


Relevant disorders: R292
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Mucopolysaccharidosis type IVA


Relevant disorders: R287
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Mucopolysaccharidosis type VI


Relevant disorders: R290
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Multi locus imprinting disorders

Level 2: Endocrinology

Relevant disorders: R417.2
Version 1.6

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

Latest signed off version: v1.2 (22 Mar 2023)
7 of 7
100%
2 reviewers Download

Multi-organ autoimmune diabetes

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

Relevant disorders:
Version 1.11

Panel Types: Rare Disease 100K,

42 of 42
100%
3 reviewers Download

Multiple endocrine neoplasia type 2


Relevant disorders: R218
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 1.14

Panel Types: Rare Disease 100K,

16 of 16
100%
7 reviewers Download

Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

11 of 11
100%
4 reviewers Download

Multiple exostoses


Relevant disorders: R390
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer 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


Relevant disorders: R230
Version 2.4

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

Latest signed off version: v2.0 (30 Nov 2022)
46 of 46
100%
7 reviewers Download

NARP syndrome or maternally inherited Leigh syndrome


Relevant disorders: R351
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
2 reviewers Download

Neonatal cholestasis

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

Panel Types: Rare Disease 100K,

95 of 95
100%

Regions: 1
13 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
41 of 41
100%

Regions: 1
9 reviewers Download

Neonatal diabetes - small panel


Relevant disorders: R143.1, Neonatal diabetes
Version 1.3

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

Latest signed off version: v1.2 (26 Sep 2023)
2 of 2
100%
1 reviewer 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 4.11

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

Latest signed off version: v4.0 (22 Mar 2023)
51 of 51
100%
11 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 1.4

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 1.32

Panel Types: Rare Disease 100K,

31 of 31
100%

Regions: 1
10 reviewers Download

Neurofibromatosis type 1 (GMS)


Relevant disorders: R222
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Neurological ciliopathies

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

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

Latest signed off version: v3.0 (22 Mar 2023)
65 of 65
100%
20 reviewers Download

Neurological segmental overgrowth

Version 2.9

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

Latest signed off version: v2.6 (22 Mar 2023)
8 of 12
67%
4 reviewers Download

Neuronal ceroid lipofuscinosis


Relevant disorders: R231
Version 2.4

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

Latest signed off version: v2.0 (22 Mar 2023)
14 of 14
100%
5 reviewers Download

Neuronal ceroid lipofuscinosis type 2


Relevant disorders: R271
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Neuropophyseal diabetes insipidus


Relevant disorders: R440
Version 1.6

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

Latest signed off version: v1.0 (22 Mar 2023)
4 of 4
100%
2 reviewers Download

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,

18 of 18
100%
5 reviewers Download

Neutropaenia consistent with ELANE mutations


Relevant disorders: R313
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome


Relevant disorders: R214
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Niemann-Pick disease type A or B


Relevant disorders: R282
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Niemann Pick disease type C


Relevant disorders: R380
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Nijmegen breakage syndrome


Relevant disorders: R259.2
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Non-acute porphyrias


Relevant disorders: R168
Version 1.23

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

Latest signed off version: v1.4 (15 Oct 2020)
9 of 9
100%
8 reviewers Download

Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders:
Version 1.29

Panel Types: Rare Disease 100K,

18 of 18
100%
5 reviewers Download

Non-syndromic familial congenital anorectal malformations

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

Panel Types: Rare Disease 100K,

51 of 51
100%
2 reviewers Download

Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

13 of 13
100%
4 reviewers Download

Ocular and oculo-cutaneous albinism


Relevant disorders:
Version 1.23

Panel Types: Rare Disease 100K,

15 of 15
100%
9 reviewers Download

Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.46

Panel Types: Rare Disease 100K,

67 of 67
100%

Regions: 2
13 reviewers Download

Ophthalmological ciliopathies

Version 3.5

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

Latest signed off version: v3.0 (22 Mar 2023)
93 of 93
100%
20 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
71 of 71
100%
25 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
191 of 191
100%
18 reviewers Download

Osteopetrosis

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R104.4
Version 1.33

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

Latest signed off version: v1.1 (21 Sep 2020)
20 of 20
100%
3 reviewers Download

Other rare neuromuscular disorders


Relevant disorders: Neuromuscular disorders, R381
Version 19.172

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

Latest signed off version: v19.1 (22 Mar 2023)
469 of 469
100%

STRs: 7
Regions: 8
38 reviewers Download

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,

Latest signed off version: v2.0 (22 Mar 2023)
9 of 9
100%
5 reviewers Download

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,

Latest signed off version: v35.2 (22 Mar 2023)
7700 of 8013
96%

STRs: 17
Regions: 80
103 reviewers Download

Paediatric disorders - additional genes

Version 3.7

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

Latest signed off version: v3.0 (22 Mar 2023)
65 of 65
100%
20 reviewers Download

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,

Latest signed off version: v3.3 (22 Mar 2023)
46 of 46
100%

STRs: 2
Regions: 5
11 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
225 of 225
100%

Regions: 1
24 reviewers Download

Paediatric pseudo-obstruction syndrome


Relevant disorders: R438
Version 1.5

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

Latest signed off version: v1.0 (22 Mar 2023)
55 of 55
100%
4 reviewers Download

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,

30 of 30
100%
10 reviewers Download

Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.29

Panel Types: Rare Disease 100K,

46 of 46
100%
11 reviewers Download

Palmoplantar keratodermas


Relevant disorders: R166
Version 3.17

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

Latest signed off version: v3.0 (22 Mar 2023)
72 of 72
100%
10 reviewers Download

Pancreatitis


Relevant disorders: R175
Version 3.4

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

Latest signed off version: v3.0 (30 Nov 2022)
18 of 18
100%
6 reviewers Download

Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Parathyroid cancer
Version 1.4

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 1.120

Panel Types: Rare Disease 100K,

80 of 80
100%

STRs: 9
16 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
92 of 92
100%

STRs: 5
Regions: 1
15 reviewers Download

Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.4

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 1.33

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 1.19

Panel Types: Rare Disease 100K,

38 of 38
100%
8 reviewers Download

Peutz Jeghers Syndrome


Relevant disorders: R212
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

PHACE(S) syndrome

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

Panel Types: Rare Disease 100K,

6 of 6
100%
1 reviewer Download

Phenylketonuria


Relevant disorders: R283
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Pigmentary skin disorders


Relevant disorders: R236
Version 3.5

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

Latest signed off version: v3.0 (22 Mar 2023)
131 of 131
100%

Regions: 1
9 reviewers Download

Pituitary hormone deficiency


Relevant disorders: R159
Version 3.5

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

Latest signed off version: v3.0 (22 Mar 2023)
56 of 64
88%
7 reviewers Download

Pityriasis rubra pilaris


Relevant disorders:
Version 1.2

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 3.5

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

Latest signed off version: v3.0 (22 Mar 2023)
35 of 35
100%
10 reviewers Download

POLG-related disorder


Relevant disorders: R315
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v1.26 (22 Mar 2023)
20 of 20
100%
4 reviewers Download

Possible mitochondrial disorder - nuclear genes


Relevant disorders: R63
Version 3.68

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

Latest signed off version: v3.0 (22 Mar 2023)
381 of 381
100%
15 reviewers Download

Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders: Primary ciliary dyskinesia
Version 1.40

Panel Types: Rare Disease 100K,

144 of 144
100%
17 reviewers Download

Primary hyperaldosteronism - KCNJ5


Relevant disorders: R344
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
546 of 553
99%

Regions: 2
32 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 3.9

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

Latest signed off version: v3.0 (30 Nov 2022)
57 of 57
100%
12 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 1.67

Panel Types: Rare Disease 100K,

70 of 70
100%

STRs: 1
12 reviewers Download

Primary pigmented nodular adrenocortical disease


Relevant disorders: R160
Version 1.10

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

Latest signed off version: v1.2 (19 Feb 2020)
4 of 4
100%
2 reviewers Download

Progressive cardiac conduction disease


Relevant disorders: R328
Version 2.5

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

Latest signed off version: v2.2 (22 Mar 2023)
21 of 21
100%
9 reviewers Download

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,

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 4.3

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

Latest signed off version: v4.0 (22 Mar 2023)
108 of 108
100%
17 reviewers Download

Pseudoxanthoma elasticum


Relevant disorders: R420
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

PTEN Hamartoma Tumor Syndrome


Relevant disorders: R213
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Pulmonary alveolar microlithiasis


Relevant disorders: R426
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v3.0 (30 Nov 2022)
21 of 21
100%
12 reviewers Download

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,

Latest signed off version: v1.3 (30 Nov 2022)
27 of 27
100%
3 reviewers Download

Pyruvate dehydrogenase (PDH) deficiency


Relevant disorders: R316
Version 1.36

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

Latest signed off version: v1.2 (17 Feb 2020)
26 of 26
100%
6 reviewers Download

Radial dysplasia

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

Relevant disorders:
Version 1.23

Panel Types: Rare Disease 100K,

60 of 60
100%
11 reviewers Download

Rare anaemia


Relevant disorders: R92
Version 3.4

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

Latest signed off version: v3.0 (22 Mar 2023)
100 of 100
100%
14 reviewers Download

Rare genetic inflammatory skin disorders


Relevant disorders: R332
Version 3.5

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

Latest signed off version: v3.0 (22 Mar 2023)
70 of 70
100%
10 reviewers Download

Rare multisystem ciliopathy disorders

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

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

Panel Types: Rare Disease 100K,

205 of 207
99%

Regions: 2
23 reviewers Download

Rare multisystem ciliopathy Super panel

Version 12.38

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

Latest signed off version: v12.2 (22 Mar 2023)
328 of 330
99%

Regions: 2
24 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
199 of 199
100%

Regions: 2
13 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 1.78

Panel Types: Rare Disease 100K,

26 of 26
100%

Regions: 1
12 reviewers Download

Recurrent episodic apnoea


Relevant disorders: R434
Version 1.3

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

Latest signed off version: v1.0 (22 Mar 2023)
20 of 20
100%
4 reviewers Download

Refuted genes


Relevant disorders:
Version 0.13

Panel Types: Reference,

5 of 5
100%
3 reviewers Download

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,

10 of 10
100%
2 reviewers Download

Renal ciliopathies

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

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

Latest signed off version: v3.0 (22 Mar 2023)
101 of 103
98%

Regions: 2
20 reviewers Download

Renal superpanel - broad

Level 2: Renal and urinary tract disorders
Version 18.72

Panel Types: Super Panel,

927 of 1007
92%

Regions: 11
50 reviewers Download

Renal superpanel - narrow

Level 2: Renal and urinary tract disorders
Version 16.60

Panel Types: Super Panel,

558 of 560
100%

Regions: 5
49 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
65 of 65
100%
14 reviewers Download

Respiratory ciliopathies including non-CF bronchiectasis


Relevant disorders: R189
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
77 of 77
100%
20 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, Sorsby retinal dystrophy, Doyne retinal dystrophy, R32
Version 4.42

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

Latest signed off version: v4.0 (22 Mar 2023)
420 of 420
100%
33 reviewers Download

Retinoblastoma


Relevant disorders: R219
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Rhabdoid tumour predisposition


Relevant disorders: R358
Version 1.8

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

Latest signed off version: v1.2 (4 Mar 2020)
2 of 2
100%
4 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
69 of 69
100%
11 reviewers Download

Sandhoff disease


Relevant disorders: R285
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

33 of 33
100%
9 reviewers Download

Sarcoma susceptibility

Version 1.75

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

Latest signed off version: v1.2 (18 Feb 2020)
43 of 43
100%
12 reviewers Download

SCID with features of gamma chain deficiency


Relevant disorders: R235
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Segmental or atypical neurofibromatosis type 1 testing


Relevant disorders: R376
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

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,

Latest signed off version: v3.3 (22 Mar 2023)
17 of 20
85%
9 reviewers Download

Severe combined immunodeficiency with adenosine deaminase deficiency


Relevant disorders: R16
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Severe combined immunodeficiency with PNP deficiency


Relevant disorders: R234
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 4.10

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

Latest signed off version: v4.0 (22 Mar 2023)
47 of 47
100%

Regions: 3
15 reviewers Download

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,

1 of 1
100%
1 reviewer Download

Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.17

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, R88
Version 4.41

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

Latest signed off version: v4.0 (22 Mar 2023)
265 of 265
100%

Regions: 6
30 reviewers Download

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,

5 of 8
62%
3 reviewers Download

Severe Paediatric Disorders

Version 1.177

Panel Types: Research,

2691 of 2691
100%
11 reviewers Download

Short QT syndrome


Relevant disorders: R130
Version 3.9

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

Latest signed off version: v3.1 (22 Mar 2023)
38 of 40
95%
12 reviewers Download

Short stature - SHOX deficiency


Relevant disorders: R52
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders

Relevant disorders: Silver-Russell syndrome
Version 1.12

Panel Types: Rare Disease 100K,

9 of 9
100%
6 reviewers Download

Sitosterolaemia


Relevant disorders: R323
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Skeletal ciliopathies

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

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

Latest signed off version: v3.1 (22 Mar 2023)
69 of 69
100%
17 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
532 of 622
86%

STRs: 1
Regions: 6
30 reviewers Download

Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.45

Panel Types: Rare Disease 100K,

24 of 24
100%

STRs: 2
9 reviewers Download

Skeletal muscle channelopathy


Relevant disorders: R76, Myotonia congenita
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
19 of 19
100%

STRs: 2
5 reviewers Download

Smith-Lemli-Opitz syndrome


Relevant disorders: R270
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Spinal muscular atrophy type 1 rare mutation testing


Relevant disorders: R71
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Sporadic aniridia


Relevant disorders: Aniridia, R38
Version 3.5

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

Latest signed off version: v3.2 (22 Mar 2023)
7 of 7
100%

Regions: 1
5 reviewers Download

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,

Latest signed off version: v4.0 (22 Mar 2023)
11 of 11
100%
12 reviewers Download

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,

77 of 77
100%

STRs: 1
8 reviewers Download

Structural eye disease


Relevant disorders: R36
Version 3.58

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

Latest signed off version: v3.0 (22 Mar 2023)
498 of 498
100%

Regions: 2
19 reviewers Download

Subcutaneous panniculitis T-cell lymphoma (SPTCL)


Relevant disorders: R424
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Unexplained sudden death in the young
Version 1.15

Panel Types: Rare Disease 100K,

34 of 35
97%
8 reviewers Download

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,

Latest signed off version: v19.6 (22 Mar 2023)
275 of 277
99%

STRs: 1
32 reviewers Download

Surfactant deficiency


Relevant disorders: R192
Version 1.11

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

Latest signed off version: v1.2 (2 Mar 2020)
8 of 8
100%
3 reviewers Download

Syndromic and non syndromic craniosynostosis involving midline sutures


Relevant disorders: R416
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Tay-Sachs disease


Relevant disorders: R286
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Testicular cancer pertinent cancer susceptibility

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

Relevant disorders: Testicular Germ Cell Tumours
Version 1.1

Panel Types: Cancer Germline 100K,

0 of 0
0%
0 reviewers Download

Thalassaemia and other haemoglobinopathies


Relevant disorders: R93
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Thanatophoric dysplasia


Relevant disorders: R25
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Thiamine metabolism dysfunction syndrome 2


Relevant disorders: R395
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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 1.126

Panel Types: Rare Disease 100K,

65 of 65
100%
23 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
69 of 69
100%
25 reviewers Download

Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.18

Panel Types: Rare Disease 100K,

134 of 134
100%

STRs: 1
11 reviewers Download

Thrombocythaemia

Level 3: Haemostasis disorders
Level 2: Haematological disorders

Relevant disorders: R406
Version 1.5

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

Latest signed off version: v1.1 (30 Sep 2020)
5 of 5
100%
3 reviewers Download

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,

Latest signed off version: v2.2 (22 Mar 2023)
21 of 21
100%
8 reviewers Download

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,

3 of 5
60%
2 reviewers Download

Tuberous sclerosis


Relevant disorders: R228
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
2 of 2
100%
1 reviewer Download

Tubulointerstitial kidney disease


Relevant disorders: R202
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
25 of 25
100%
7 reviewers Download

Ultra-rare undescribed monogenic disorders

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

Panel Types: Rare Disease 100K,

0 of 0
0%
0 reviewers Download

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,

457 of 754
61%

STRs: 1
Regions: 1
17 reviewers Download

Undiagnosed monogenic disorder seen in a specialist genetics clinic

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

0 of 0
0%
0 reviewers Download

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,

Latest signed off version: v6.2 (22 Mar 2023)
1862 of 2001
93%

STRs: 5
Regions: 19
73 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 1.117

Panel Types: Rare Disease 100K,

95 of 173
55%

Regions: 3
15 reviewers Download

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,

Latest signed off version: v3.0 (22 Mar 2023)
236 of 236
100%

Regions: 3
25 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 1.34

Panel Types: Rare Disease 100K,

62 of 62
100%
11 reviewers Download

Van der Woude syndrome


Relevant disorders: R284
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Variegate porphyria


Relevant disorders: R170
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Vascular skin disorders


Relevant disorders: R326
Version 1.54

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

Latest signed off version: v1.3 (15 Oct 2020)
37 of 37
100%
7 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

Viral resistance

Level 2: Viral research
Version 0.63

Panel Types: Research,

23 of 24
96%
4 reviewers Download

Von Hippel Lindau syndrome


Relevant disorders: R225
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

von Willebrand disease


Relevant disorders: R121
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

White matter disorders and cerebral calcification - narrow panel

Version 3.23

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

Latest signed off version: v3.0 (22 Mar 2023)
90 of 243
37%
12 reviewers Download

Wilms tumour with features suggestive of predisposition


Relevant disorders: R220
Version 1.3

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

Latest signed off version: v1.0 (30 Nov 2022)
5 of 5
100%
1 reviewer Download

Wilson disease


Relevant disorders: R172
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer Download

Wiskott-Aldrich syndrome


Relevant disorders: R20
Version 1.1

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

Latest signed off version: v1.0 (14 Sep 2023)
1 of 1
100%
1 reviewer 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, R227
Version 3.3

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

Latest signed off version: v3.0 (22 Mar 2023)
21 of 21
100%
10 reviewers Download