285 panels

Panel Evaluated genes Reviewers Actions
285 panels

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 1.82

58 of 58
100%
11 reviewers Download

Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.25

8 of 8
100%
4 reviewers Download

Currarino triad


Relevant disorders:
Version 1.1

11 of 11
100%
3 reviewers Download

Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia
Version 1.21

43 of 43
100%
6 reviewers Download

Familial dysautonomia

Version 1.5

22 of 22
100%
5 reviewers Download

Refuted genes


Relevant disorders:
Version 0.12

4 of 4
100%
2 reviewers Download

Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.28

51 of 54
94%

Regions: 1
5 reviewers Download

Familial Neural Tube Defects


Relevant disorders:
Version 1.5

4 of 44
9%
3 reviewers Download

Brugada syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

23 of 23
100%
6 reviewers Download

Prostate cancer pertinent cancer susceptibility

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

Relevant disorders: Prostate
Version 1.0

5 of 5
100%
2 reviewers Download

Monogenic nephrogenic diabetes insipidus


Relevant disorders: monogenic nephrogenic diabetes insipidus
Version 1.8

5 of 5
100%
3 reviewers Download

Multiple lipomas


Relevant disorders:
Version 1.1

4 of 4
100%
1 reviewer Download

Hereditary ataxia

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

Relevant disorders:
Version 1.199

174 of 177
98%

STRs: 14
Regions: 3
12 reviewers Download

Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

11 of 11
100%
2 reviewers Download

Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

13 of 13
100%
3 reviewers Download

Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Congential disorders of glycosylation
Version 1.20

100 of 100
100%
7 reviewers Download

Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

Relevant disorders:
Version 1.57

64 of 65
98%

Regions: 1
7 reviewers Download

Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.2

5 of 5
100%
3 reviewers Download

Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Congenital hypothyroidism or thyroid agenesis
Version 1.16

31 of 33
94%

Regions: 2
5 reviewers Download

Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders:
Version 1.58

64 of 82
78%
8 reviewers Download

Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders: Anophthalmia or microphthamia, Anophthalmia/microphthamia, Anophthalmia/microphthalmia
Version 1.15

56 of 56
100%
6 reviewers Download

Endocrine neoplasia

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Multiple endocrine tumours, Multiple endocrine neoplasia type 1
Version 1.8

16 of 16
100%
6 reviewers Download

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

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

Relevant disorders: Atypical Beckwith-Wiedemann syndrome, Classical Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Weaver syndrome
Version 1.42

18 of 20
90%

Regions: 1
5 reviewers Download

Parkinson Disease and Complex Parkinsonism

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

Relevant disorders: Complex Parkinsonism (includes pallido-pyramidal syndromes), Early onset and familial Parkinson's Disease
Version 1.64

66 of 66
100%

STRs: 9
10 reviewers Download

Inherited white matter disorders

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

Relevant disorders: Leukodystrophy - adult onset
Version 1.60

162 of 165
98%
8 reviewers Download

Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Unexplained sudden death in the young
Version 1.11

34 of 35
97%
7 reviewers Download

Dilated cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Dilated Cardiomyopathy and conduction defects, Dilated Cardiomyopathy, Dilated Cardiomyopathy (DCM)
Version 1.38

81 of 81
100%
8 reviewers Download

RASopathies

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

Relevant disorders: Cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Legius syndrome, Noonan syndrome, Noonan syndrome plus other features
Version 1.27

19 of 20
95%

Regions: 1
6 reviewers Download

Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Hypertrophic Cardiomyopathy, HCM
Version 1.26

69 of 69
100%

STRs: 1
8 reviewers Download

Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.5

15 of 15
100%
4 reviewers Download

Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders

Relevant disorders: Classical Ehlers Danlos Syndrome, Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense), Ehlers-Danlos syndrome type 3, Kyphoscoliotic Ehlers-Danlos syndrome, EDS, Ehlers-Danlos syndromes
Version 1.40

75 of 75
100%
11 reviewers Download

Breast cancer pertinent cancer susceptibility

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

Relevant disorders: Breast
Version 1.0

5 of 5
100%
2 reviewers Download

Haematological malignancies pertinent cancer susceptibility

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

Relevant disorders: Haemonc
Version 1.2

89 of 89
100%
3 reviewers Download

Periodic fever syndromes

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

Relevant disorders: Periodic fever syndromes and amyloidosis
Version 1.10

30 of 30
100%
5 reviewers Download

Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

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

27 of 27
100%

STRs: 1
6 reviewers Download

Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders

Relevant disorders:
Version 1.7

5 of 8
62%
3 reviewers Download

Familial Hirschsprung Disease

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

62 of 62
100%
5 reviewers Download

ClinGen Gene Validity Curations

Version 0.63

47 of 47
100%
3 reviewers Download

Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders

Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease
Version 1.33

22 of 22
100%
5 reviewers Download

Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.25

55 of 55
100%
5 reviewers Download

Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

18 of 18
100%
3 reviewers Download

Long QT syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Long QT
Version 1.9

20 of 20
100%
6 reviewers Download

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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

Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders
Version 1.7

17 of 17
100%
6 reviewers Download

Holoprosencephaly

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

Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly - NOT chromosomal
Version 1.11

16 of 16
100%
4 reviewers Download

Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.20

41 of 46
89%

STRs: 2
Regions: 5
6 reviewers Download

Clefting

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

Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting
Version 1.34

236 of 257
92%

Regions: 5
11 reviewers Download

Testicular cancer pertinent cancer susceptibility

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

Relevant disorders: Testicular Germ Cell Tumours
Version 1.0

0
0%
0 reviewers Download

Membranoproliferative glomerulonephritis

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

Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis
Version 1.3

9 of 9
100%
3 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 1.49

209 of 211
99%

STRs: 5
Regions: 2
13 reviewers Download

Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Parathyroid cancer
Version 1.3

7 of 7
100%
3 reviewers Download

Multi-organ autoimmune diabetes

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

Relevant disorders:
Version 1.7

42 of 42
100%
2 reviewers Download

Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.52

29 of 30
97%

STRs: 5
Regions: 1
5 reviewers Download

Erythropoietic protoporphyria, mild variant

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

Relevant disorders:
Version 1.2

2 of 2
100%
2 reviewers Download

Hypogonadotropic hypogonadism

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

Relevant disorders: Kallmann syndrome, Kallmann syndrom, Idiopathic hypogonadotropic hypogonadism
Version 1.20

44 of 44
100%
9 reviewers Download

PHACE(S) syndrome

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

Relevant disorders:
Version 1.1

6 of 6
100%
1 reviewer Download

Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.164

72 of 73
99%

Regions: 1
9 reviewers Download

Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Neuro-endocrine Tumours- PCC and PGL
Version 1.4

20 of 20
100%
4 reviewers Download

Segmental overgrowth disorders


Relevant disorders: Regional overgrowth disorders
Version 1.7

10 of 14
71%
4 reviewers Download

Haematuria

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

Relevant disorders: Alport syndrome, Familial haematuria
Version 1.16

8 of 8
100%
4 reviewers Download

VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23

58 of 58
100%
7 reviewers Download

Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax
Version 1.10

35 of 35
100%
5 reviewers Download

Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 1.13

50 of 50
100%
8 reviewers Download

Cerebral folate deficiency

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

4 of 4
100%
3 reviewers Download

Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

7 of 7
100%
3 reviewers Download

Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders

Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features
Version 1.86

360 of 363
99%

STRs: 2
Regions: 1
11 reviewers Download

Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders

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

37 of 37
100%
4 reviewers Download

Head and neck cancer pertinent cancer susceptibility

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

Relevant disorders: Nasopharyngeal, Oral Oropharyngeal, Sinonasal
Version 1.0

12 of 12
100%
4 reviewers Download

Ovarian cancer pertinent cancer susceptibility

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

Relevant disorders: Ovarian
Version 1.0

8 of 8
100%
2 reviewers Download

Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.6

21 of 21
100%
4 reviewers Download

Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.7

134 of 134
100%

STRs: 1
7 reviewers Download

Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial and multiple pulmonary arteriovenous malformations
Version 1.35

14 of 14
100%
4 reviewers Download

Hearing loss

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

Relevant disorders: Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe)
Version 1.56

356 of 356
100%
9 reviewers Download

Ocular and oculo-cutaneous albinism


Relevant disorders:
Version 1.20

15 of 15
100%
8 reviewers Download

Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders

Relevant disorders: Significant early-onset obesity with or without other endocrine features and short stature, Significant early-onset obesity +/- other endocrine features and short stature
Version 1.7

35 of 42
83%

Regions: 3
5 reviewers Download

IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders

Relevant disorders:
Version 1.25

107 of 114
94%

Regions: 5
10 reviewers Download

Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.8

12 of 12
100%
4 reviewers Download

Melanoma pertinent cancer susceptibility

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

Relevant disorders: Malignant Melanoma
Version 1.0

3 of 3
100%
2 reviewers Download

Arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy
Version 1.8

15 of 15
100%
4 reviewers Download

Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders

Relevant disorders:
Version 1.15

28 of 28
100%
5 reviewers Download

Atypical haemolytic uraemic syndrome

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 1.5

10 of 10
100%
4 reviewers Download

Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial ovarian cancer
Version 1.3

9 of 26
35%
3 reviewers Download

Fetal hydrops

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

Relevant disorders:
Version 1.16

68 of 68
100%

STRs: 1
7 reviewers Download

Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 1.7

20 of 20
100%
5 reviewers Download

Cerebral vascular malformations

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

Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease
Version 1.36

93 of 93
100%
4 reviewers Download

Nephrocalcinosis or nephrolithiasis

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

Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Version 1.16

37 of 42
88%
6 reviewers Download

Rare multisystem ciliopathy disorders

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

Relevant disorders: Joubert syndrome, Bardet-Biedl Syndrome
Version 1.83

198 of 202
98%

Regions: 2
15 reviewers Download

Familial diabetes

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

Relevant disorders: Familial young-onset non-insulin-dependent diabetes
Version 1.15

48 of 49
98%

Regions: 1
5 reviewers Download

Renal cancer pertinent cancer susceptibility

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

Relevant disorders: Renal
Version 1.0

10 of 10
100%
2 reviewers Download

Primary ovarian insufficiency

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

Relevant disorders: Early onset familial premature ovarian insufficiency, Early onset familial premature ovarian failure
Version 1.15

57 of 57
100%

STRs: 1
7 reviewers Download

End-stage renal disease - childhood onset

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

Relevant disorders: Unexplained kidney failure in young people, Familial IgA nephropathy and IgA vasculitis
Version 1.23

82 of 169
49%

Regions: 3
6 reviewers Download

Hereditary Erythrocytosis


Relevant disorders:
Version 1.1

12 of 13
92%
3 reviewers Download

Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial breast and or ovarian cancer
Version 1.13

26 of 26
100%
5 reviewers Download

Cytopaenias 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
Version 1.65

217 of 217
100%
11 reviewers Download

Severe microcephaly

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

Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly
Version 1.44

115 of 119
97%

Regions: 4
9 reviewers Download

Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.185

116 of 117
99%

STRs: 10
15 reviewers Download

Brain cancer pertinent cancer susceptibility

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

Relevant disorders: Adult Glioma
Version 1.0

7 of 7
100%
2 reviewers Download

Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders: Familial tumour syndromes of the central & peripheral nervous system, Familial tumour syndromes of the central and peripheral nervous system
Version 1.8

14 of 22
64%

Regions: 1
2 reviewers Download

Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders

Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis
Version 1.44

64 of 65
98%

Regions: 1
5 reviewers Download

Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders:
Version 1.4

30 of 30
100%
4 reviewers Download

Kabuki syndrome

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

Relevant disorders:
Version 1.2

4 of 4
100%
4 reviewers Download

Insulin resistance (including lipodystrophy)

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

Relevant disorders: Insulin resistance (including lipodystrophy
Version 1.9

26 of 26
100%
5 reviewers Download

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 1.148

110 of 116
95%
6 reviewers Download

Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

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

62 of 62
100%
7 reviewers Download

Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders: Primary ciliary dyskinesia
Version 1.14

138 of 138
100%
8 reviewers Download

Hydrocephalus


Relevant disorders: Hydrocephalus
Version 1.28

97 of 97
100%
6 reviewers Download

Structural basal ganglia disorders

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

Relevant disorders:
Version 1.11

76 of 76
100%

STRs: 1
7 reviewers Download

Neuroendocrine cancer pertinent cancer susceptibility

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

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

12 of 12
100%
2 reviewers Download

Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.13

44 of 44
100%
5 reviewers Download

Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Inherited optic neuropathies
Version 1.26

23 of 23
100%
5 reviewers Download

Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

11 of 11
100%
2 reviewers Download

Early onset dystonia

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

Relevant disorders:
Version 1.78

65 of 114
57%

STRs: 4
14 reviewers Download

Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders

Relevant disorders: PAH
Version 1.41

18 of 18
100%
4 reviewers Download

Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Osteogenesis Imperfecta
Version 1.16

182 of 182
100%
10 reviewers Download

Classical tuberous sclerosis

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

Relevant disorders:
Version 1.2

2 of 2
100%
2 reviewers Download

Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders

Relevant disorders: Silver-Russell syndrome
Version 1.3

5 of 7
71%
3 reviewers Download

Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.5

71 of 71
100%
6 reviewers Download

Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes

Relevant disorders:
Version 1.4

9 of 12
75%
3 reviewers Download

Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.21

48 of 48
100%

STRs: 1
6 reviewers Download

Bladder cancer pertinent cancer susceptibility

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

Relevant disorders: Bladder
Version 1.0

0 of 4
0%
0 reviewers Download

Polycystic liver disease


Relevant disorders: Ductal plate malformation (DPM)
Version 1.6

54 of 150
36%
3 reviewers Download

ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Version 0.10

53 of 53
100%
1 reviewer Download

Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.2

11 of 11
100%
4 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 1.38

47 of 54
87%

Regions: 7
9 reviewers Download

Kleine-Levin syndrome

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

Relevant disorders: Kleine-Levin syndrome and other inherited sleep disorders
Version 1.3

12 of 12
100%
3 reviewers Download

Catecholaminergic polymorphic VT

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia
Version 1.4

9 of 9
100%
3 reviewers Download

Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.15

45 of 45
100%
6 reviewers Download

Sarcoma pertinent cancer susceptibility

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

Relevant disorders: Sarcoma
Version 1.0

7 of 7
100%
3 reviewers Download

Lung cancer pertinent cancer susceptibility

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

Relevant disorders: Lung
Version 1.0

0
0%
0 reviewers Download

Neurotransmitter disorders

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

Relevant disorders:
Version 1.3

14 of 14
100%
2 reviewers Download

Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders

Relevant disorders:
Version 1.12

12 of 12
100%
4 reviewers Download

Vici Syndrome and other autophagy disorders

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

Relevant disorders:
Version 1.2

12 of 12
100%
4 reviewers Download

Short QT syndrome

Version 1.1

32 of 40
80%
4 reviewers Download

Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.72

94 of 97
97%

STRs: 2
Regions: 3
7 reviewers Download

Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.8

7 of 7
100%
3 reviewers Download

Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.11

22 of 22
100%

STRs: 2
6 reviewers Download

Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.24

157 of 157
100%
8 reviewers Download

Congenital myaesthenic syndrome

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

Relevant disorders: Congenital myaesthenia, Congenital myasthenia
Version 1.11

29 of 29
100%
2 reviewers Download

CAKUT

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

Relevant disorders: Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)
Version 1.29

65 of 66
98%

Regions: 1
9 reviewers Download

Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.10

29 of 29
100%

STRs: 2
2 reviewers Download

Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Resistance to thyroid hormone
Version 1.6

5 of 5
100%
2 reviewers Download

Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.2

16 of 16
100%
2 reviewers Download

Juvenile dermatomyositis

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

Relevant disorders:
Version 1.2

0 of 5
0%
0 reviewers Download

Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes

Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndrome, Paediatric congenital malformation-dysmorphism-tumour syndromes, Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome
Version 1.21

50 of 66
76%

Regions: 1
8 reviewers Download

Colorectal cancer pertinent cancer susceptibility

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

Relevant disorders: Colorectal
Version 1.0

13 of 13
100%
3 reviewers Download

Adult solid tumours pertinent cancer susceptibility

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

Relevant disorders: Carcinoma of unknown primary, Other
Version 1.0

54 of 54
100%
2 reviewers Download

Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.2

18 of 18
100%
5 reviewers Download

Radial dysplasia

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

Relevant disorders:
Version 1.6

59 of 59
100%
8 reviewers Download

Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

44 of 44
100%
3 reviewers Download

Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.4

22 of 224
10%
5 reviewers Download

Corneal dystrophy

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Corneal abnormalities
Version 1.6

42 of 42
100%
5 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 1.10

54 of 55
98%

Regions: 1
8 reviewers Download

Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.1

51 of 51
100%
2 reviewers Download

Inherited colorectal cancer (with or without polyposis)

Level 3: GI tract
Level 2: Tumour syndromes

Relevant disorders: GI tract tumours, Familial colon cancer, Multiple bowel polyps, Peutz-Jeghers syndrome, GI tract
Version 1.8

29 of 29
100%
7 reviewers Download

Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders:
Version 1.25

30 of 31
97%

Regions: 1
8 reviewers Download

Arthrogryposis

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

Relevant disorders: Arthrogrythsis
Version 2.37

228 of 245
93%
9 reviewers Download

Childhood solid tumours pertinent cancer susceptibility

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

Relevant disorders: Childhood
Version 1.0

71 of 71
100%
3 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 1.5

5 of 5
100%
3 reviewers Download

Severe familial anorexia

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

Relevant disorders:
Version 1.2

1 of 1
100%
1 reviewer Download

Amyotrophic lateral sclerosis/motor neuron disease

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

Relevant disorders: Amyotrophic lateral sclerosis or motor neuron disease
Version 1.26

34 of 34
100%

STRs: 4
9 reviewers Download

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

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

Relevant disorders:
Version 1.46

40 of 40
100%

STRs: 9
7 reviewers Download

Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.8

106 of 106
100%
6 reviewers Download

Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Amelogenesis Imperfecta
Version 1.7

39 of 39
100%
6 reviewers Download

Endometrial cancer pertinent cancer susceptibility

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

Relevant disorders: Endometrial Carcinoma
Version 1.0

6 of 6
100%
2 reviewers Download

Upper gastrointestinal cancer pertinent cancer susceptibility

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

Relevant disorders: Hepatopancreatobiliary, Upper Gastrointestinal
Version 1.0

4 of 4
100%
2 reviewers Download

Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.0

5 of 5
100%
2 reviewers Download

Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders

Relevant disorders:
Version 1.7

14 of 15
93%

Regions: 1
3 reviewers Download

Cystic kidney disease

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

Relevant disorders: Cystic kidney disease
Version 1.33

59 of 62
95%

Regions: 2
5 reviewers Download

Intellectual disability

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

Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability – microarray, fragile X and sequencing
Version 2.596

2102 of 2250
93%

STRs: 11
Regions: 52
34 reviewers Download

Cerebellar hypoplasia

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

Relevant disorders: Cerebellar Hypoplasia, Pontine tegmental cap dysplasia
Version 1.25

62 of 63
98%
8 reviewers Download

Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: neuropathic pain, Pain channelopathies
Version 1.3

24 of 24
100%
3 reviewers Download

Familial rhabdoid tumours

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders: Familial rhabdomyosarcoma, Familial rhabdomyosarcoma or sarcoma
Version 1.2

18 of 18
100%
2 reviewers Download

Renal tubulopathies

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

Relevant disorders: Renal tubular acidosis
Version 1.14

19 of 20
95%
6 reviewers Download

Diabetes - neonatal onset

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

Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes, Neonatal diabetes diagnosed <6 months
Version 1.13

29 of 34
85%

Regions: 1
4 reviewers Download

Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.20

62 of 63
98%

Regions: 1
8 reviewers Download

Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders:
Version 1.3

17 of 17
100%
2 reviewers Download

Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Undiagnosed Metabolic Panel
Version 1.84

409 of 735
56%

STRs: 1
Regions: 1
10 reviewers Download

Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

25 of 25
100%
3 reviewers Download

Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Posterior segment abnormalities, Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy
Version 1.95

234 of 313
75%
16 reviewers Download

Congenital hyperinsulinism

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

Relevant disorders: Hyperinsulinism
Version 1.6

11 of 19
58%
4 reviewers Download

Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia
Version 1.140

413 of 531
78%

STRs: 1
Regions: 5
9 reviewers Download

Hydroa vacciniforme

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

Relevant disorders:
Version 1.2

3 of 3
100%
1 reviewer Download

Pityriasis rubra pilaris


Relevant disorders:
Version 1.1

1 of 1
100%
1 reviewer Download

Familial hypoparathyroidism

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

Relevant disorders: Familial or syndromic hypoparathyroidism
Version 1.10

9 of 9
100%
4 reviewers Download

Extreme early-onset hypertension

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

25 of 25
100%
4 reviewers Download

Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.11

26 of 26
100%
7 reviewers Download

Familial prostate cancer


Relevant disorders:
Version 1.1

14 of 14
100%
2 reviewers Download

Limb disorders

Version 1.4

215 of 217
99%
12 reviewers Download

Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.3

90 of 91
99%

Regions: 1
11 reviewers Download

Pancreatitis

Version 1.4

15 of 16
94%
4 reviewers Download

Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes

Relevant disorders: Young adult onset cancer, Exceptionally young adult onset cancer, Multiple Tumours, Rare tumour predisposition syndromes
Version 1.21

58 of 59
98%

Regions: 1
5 reviewers Download

Familial Meniere Disease

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

14 of 130
11%
4 reviewers Download

Primary immunodeficiency


Relevant disorders: Primary immunodeficiency disorders, A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency, SCID, Primary immune disorder, Primary immunodeficiency, A-gammaglobulinaemia, Agammaglobulinaemia, hypo-gammaglobulinaemia, hypogammaglobulinemia, immune deficiency syndromes, Severe combined immunodeficiency, Congenital neutopenia, Familial haemophagocytic lymphohistiocytic disorders, Familial hemophagocytic lymphohistiocytic disorders, PID, Sepsis, Disseminated non-tuberculous mycobacterial infection
Version 1.29

389 of 391
99%

Regions: 2
18 reviewers Download

Genetic epilepsy syndromes

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

Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus
Version 1.13

556 of 572
97%

STRs: 2
Regions: 13
19 reviewers Download

Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.0

89 of 89
100%
3 reviewers Download

Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.6

21 of 21
100%
1 reviewer Download

Thyroid cancer pertinent cancer susceptibility

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

Relevant disorders: Endocrine
Version 1.0

2 of 5
40%
1 reviewer Download

Neuromuscular disorders


Relevant disorders: Other rare neuromuscular disorders
Version 1.1

7 of 251
3%

STRs: 2
Regions: 5
2 reviewers Download

Hereditary ataxia - adult onset


Relevant disorders: Hereditary ataxia with onset in adulthood
Version 1.0

14 of 192
7%

STRs: 13
Regions: 4
1 reviewer Download

Inborn errors of metabolism


Relevant disorders: Likely inborn error of metabolism - targeted testing not possible
Version 1.34

8 of 872
1%

STRs: 2
Regions: 1
3 reviewers Download

Cardiac arrhythmias


Relevant disorders: Cardiac arrythmias
Version 0.13

3 of 43
7%
1 reviewer Download

Cardiomyopathies - including childhood onset

Version 0.60

15 of 994
2%

STRs: 2
Regions: 2
2 reviewers Download

Tumour predisposition - adult onset

Version 0.4

0 of 65
0%

Regions: 2
0 reviewers Download

Molecular autopsy

Version 0.55

4 of 1036
0%

STRs: 2
Regions: 2
2 reviewers Download

Monogenic diabetes

Version 0.10

35 of 78
45%

Regions: 1
3 reviewers Download

Growth failure in early childhood

Version 0.3

0 of 116
0%

Regions: 5
0 reviewers Download

Neurodegenerative disorders - adult onset

Version 0.154

25 of 394
6%

STRs: 16
Regions: 4
2 reviewers Download

Dystonia - childhood onset

Version 1.0

8 of 184
4%

STRs: 7
Regions: 1
2 reviewers Download

White matter disorders and cerebral calcification - narrow panel

Version 1.5

0 of 191
0%
0 reviewers Download

Ataxia and cerebellar anomalies - narrow panel

Version 1.0

15 of 212
7%

STRs: 13
Regions: 3
2 reviewers Download

Fetal anomalies

Version 0.62

1679 of 1679
100%
2 reviewers Download

Paediatric disorders - additional genes

Version 0.6

0
0%
0 reviewers Download

Familial hyperparathyroidism

Version 0.26

10 of 10
100%
2 reviewers Download

Hypocalciuric hypercalcaemia

Version 1.0

3 of 3
100%
2 reviewers Download

Hypophosphataemia or rickets

Version 0.30

14 of 14
100%
3 reviewers Download

Pituitary hormone deficiency

Version 0.67

40 of 50
80%
1 reviewer Download

DDG2P

Version 0.48

1790 of 1790
100%
1 reviewer Download

Renal and urinary tract disorders

Version 0.15

0 of 178
0%

Regions: 3
0 reviewers Download

Amyloidosis

Version 0.2

0
0%
0 reviewers Download

Inherited MMR deficiency (Lynch syndrome)

Version 0.1

0
0%
0 reviewers Download

Inherited polyposis

Version 0.1

0
0%
0 reviewers Download

Paediatric or syndromic cardiomyopathy

Version 0.1

0
0%
0 reviewers Download

Progressive cardiac conduction disease

Version 0.3

1 of 1
100%
1 reviewer Download

Common craniosynostosis syndromes

Version 0.1

0
0%
0 reviewers Download

Confirmed Fanconi anaemia or Bloom syndrome

Version 0.1

0
0%
0 reviewers Download

Structural eye disease

Version 0.5

1 of 288
0%

Regions: 1
1 reviewer Download

Aniridia

Version 0.15

1 of 4
25%

Regions: 1
1 reviewer Download

Albinism or congenital nystagmus

Version 0.3

0 of 23
0%
0 reviewers Download

Congenital fibrosis of the extraocular muscles

Version 0.1

0
0%
0 reviewers Download

Non-acute porphyrias

Version 0.11

9 of 9
100%
8 reviewers Download

Intestinal failure

Version 0.10

11 of 11
100%
5 reviewers Download

Iron metabolism disorders

Version 0.1

0
0%
0 reviewers Download

Thrombophilia

Version 0.1

0
0%
0 reviewers Download

Combined factor V and VIII deficiency

Version 0.1

0
0%
0 reviewers Download

Rare anaemia

Version 0.1

0
0%
0 reviewers Download

Cytopenia - NOT Fanconi anaemia

Version 0.1

0
0%
0 reviewers Download

Cytopenia - Fanconi breakage testing indicated

Version 0.1

0
0%
0 reviewers Download

Inherited renal cancer

Version 0.1

12 of 12
100%
1 reviewer Download

Familial melanoma

Version 0.1

0
0%
0 reviewers Download

Inherited predisposition to GIST

Version 0.1

0
0%
0 reviewers Download

Inherited pancreatic cancer

Version 0.1

0
0%
0 reviewers Download

Inherited predisposition to acute myeloid leukaemia (AML)

Version 0.1

0
0%
0 reviewers Download

Neuronal ceroid lipofuscinosis

Version 0.1

0
0%
0 reviewers Download

Lipoprotein lipase deficiency

Version 0.1

0
0%
0 reviewers Download

Glycogen storage disease

Version 0.1

0
0%
0 reviewers Download

Lysosomal storage disorder

Version 0.1

0
0%
0 reviewers Download

Leber hereditary optic neuropathy

Version 0.1

0
0%
0 reviewers Download

Pyruvate dehydrogenase (PDH) deficiency

Version 0.1

0
0%
0 reviewers Download

Mitochondrial liver disease

Version 0.1

0
0%
0 reviewers Download

Mitochondrial DNA maintenance disorder

Version 0.1

0
0%
0 reviewers Download

Mitochondrial disorder with complex I deficiency

Version 0.1

0
0%
0 reviewers Download

Mitochondrial disorder with complex II deficiency

Version 0.1

0
0%
0 reviewers Download

Mitochondrial disorder with complex III deficiency

Version 0.1

0
0%
0 reviewers Download

Mitochondrial disorder with complex IV deficiency

Version 0.1

0
0%
0 reviewers Download

Mitochondrial disorder with complex V deficiency

Version 0.1

0
0%
0 reviewers Download

Possible mitochondrial disorder - nuclear genes

Version 0.1

0
0%
0 reviewers Download

Adult onset movement disorder

Version 0.43

12 of 206
6%

STRs: 11
Regions: 1
2 reviewers Download

Paroxysmal neurological disorders, pain disorders and sleep disorders

Version 0.17

5 of 79
6%

STRs: 5
Regions: 1
1 reviewer Download

Myotonia congenita

Version 0.1

0
0%
0 reviewers Download

Bardet Biedl syndrome

Version 0.1

0
0%
0 reviewers Download

Cholestasis

Version 0.10

36 of 36
100%
11 reviewers Download

Bleeding and platelet disorders

Version 0.1

0
0%
0 reviewers Download

Lipodystrophy - childhood onset

Version 1.0

12 of 12
100%
6 reviewers Download

Neuromuscular arthrogryposis

Version 0.1

0
0%
0 reviewers Download

Tubulointerstitial kidney disease

Version 0.1

0
0%
0 reviewers Download

Laterality disorders and isomerism

Version 0.7

55 of 55
100%
1 reviewer Download

Respiratory ciliopathies including non-CF bronchiectasis

Version 0.11

60 of 60
100%
3 reviewers Download

Surfactant deficiency

Version 0.4

7 of 7
100%
1 reviewer Download

Familial tumoral calcinosis

Version 0.8

0 of 4
0%
0 reviewers Download

Ectodermal dysplasia

Version 0.8

60 of 60
100%
7 reviewers Download

Epidermolysis bullosa and congenital skin fragility

Version 0.11

34 of 34
100%
6 reviewers Download

Ichthyosis and erythrokeratoderma

Version 0.6

56 of 57
98%

Regions: 1
8 reviewers Download

Palmoplantar keratodermas

Version 0.2

0
0%
0 reviewers Download

Autosomal recessive primary hypertrophic osteoarthropathy

Version 0.2

0
0%
0 reviewers Download

Multiple monogenic benign skin tumours

Version 0.2

0
0%
0 reviewers Download

Pigmentary skin disorders

Version 0.2

0
0%
0 reviewers Download

Cutaneous photosensitivity with a likely genetic cause

Version 0.2

0
0%
0 reviewers Download

Neonatal erythroderma

Version 0.2

0
0%
0 reviewers Download

Epidermodysplasia verruciformis

Version 0.2

0
0%
0 reviewers Download

Vascular skin disorders

Version 0.2

0
0%
0 reviewers Download

Mosaic skin disorders - deep sequencing

Version 0.2

0
0%
0 reviewers Download

Rare genetic inflammatory skin disorders

Version 0.2

0
0%
0 reviewers Download

Primary pigmented nodular adrenocortical disease

Version 0.3

0 of 3
0%
0 reviewers Download

Hereditary spastic paraplegia - adult onset

Version 0.1

0
0%
0 reviewers Download

Hereditary spastic paraplegia - childhood onset


Relevant disorders: Childhood onset hereditary spastic paraplegia
Version 0.62

61 of 103
59%

STRs: 10
3 reviewers Download

White matter disorders – adult onset

Version 0.1

0
0%
0 reviewers Download