223 panels

Panel Evaluated genes Reviewers Actions
223 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 1.76

57 of 57
100%
10 reviewers Download

Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.23

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 1.20

43 of 43
100%
6 reviewers Download

Familial dysautonomia


Relevant disorders:
Version 1.4

22 of 22
100%
5 reviewers Download

Refuted genes


Relevant disorders:
Version 0.11

4 of 4
100%
2 reviewers Download

Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.25

51 of 52
98%

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

Relevant disorders:
Version 1.7

23 of 23
100%
3 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 1.5

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 1.122

172 of 175
98%

STRs: 12
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 1.19

99 of 99
100%
6 reviewers Download

Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

Relevant disorders:
Version 1.55

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 or thyroid agenesis

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Congenital hypothyroidism
Version 1.2

27 of 29
93%

Regions: 2
2 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

Multiple endocrine neoplasia type 1

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Multiple endocrine tumours
Version 1.6

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 1.45

63 of 63
100%

STRs: 6
10 reviewers Download

Inherited white matter disorders

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

Relevant disorders:
Version 1.22

162 of 165
98%
8 reviewers Download

Neonatal or paediatric intensive care admission with a likely monogenic cause

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

Relevant disorders: Neonatal or paediatric intensive care admission with a likely monogenic disease
Version 0.4

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 1.10

34 of 35
97%
7 reviewers Download

Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Dilated Cardiomyopathy, Dilated Cardiomyopathy (DCM)
Version 1.34

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

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: HCM
Version 1.21

68 of 68
100%

STRs: 1
8 reviewers Download

Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.3

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
Version 1.33

74 of 74
100%
10 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

Neonatal and familial gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders: Infantile pseudo-obstruction, Early onset or familial intestinal pseudo obstruction
Version 1.7

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

Lymphatic Disorders

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders

Relevant disorders: Meiges disease;Meige disease;Milroy disease;Lymphoedema distichiasis;Lipoedema disease;Primary lymphoedema
Version 1.31

22 of 22
100%
5 reviewers Download

Rhabdomyolysis and metabolic muscle disorders

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

Relevant disorders:
Version 1.21

55 of 55
100%
4 reviewers Download

Epileptic encephalopathy

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

Relevant disorders:
Version 1.143

183 of 183
100%
19 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:
Version 1.5

20 of 20
100%
5 reviewers Download

Cockayne and Xeroderma Pigmentosum-like disorders

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

Relevant disorders: Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders
Version 1.5

17 of 17
100%
6 reviewers Download

Holoprosencephaly

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

Relevant disorders: Rhombencephalosynapsis
Version 1.5

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

Relevant disorders:
Version 1.14

41 of 46
89%

STRs: 2
Regions: 5
5 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 1.32

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

Primary Membranoproliferative Glomerulonephritis

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

Relevant disorders: PMG, MPGN
Version 1.1

9 of 9
100%
3 reviewers Download

Charcot-Marie-Tooth disease

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

Relevant disorders:
Version 1.25

204 of 206
99%

Regions: 2
11 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 1.31

25 of 26
96%

STRs: 2
Regions: 1
3 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 1.15

43 of 43
100%
7 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

Relevant disorders:
Version 1.160

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 1.3

20 of 20
100%
4 reviewers Download

Regional overgrowth disorders


Relevant disorders:
Version 1.3

10 of 14
71%
4 reviewers Download

Familial haematuria

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

Relevant disorders: Alport syndrome
Version 1.14

8 of 8
100%
4 reviewers Download

VACTERL-like phenotypes

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

Relevant disorders:
Version 1.22

58 of 58
100%
7 reviewers Download

Familial Pneumothorax

Level 3: Structural lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial Primary Spontaneous Pneumothorax
Version 1.6

20 of 20
100%
4 reviewers Download

Proteinuric renal disease

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

Relevant disorders:
Version 1.11

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

Monogenic viral susceptibility


Relevant disorders:
Version 0.8

4 of 6
67%
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 1.69

358 of 361
99%

Regions: 1
10 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 1.3

21 of 21
100%
4 reviewers Download

Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.2

133 of 133
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 1.29

13 of 13
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 1.49

356 of 356
100%
8 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 1.6

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 Right Ventricular Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.4

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

Relevant disorders:
Version 1.3

10 of 10
100%
4 reviewers Download

Familial ovarian cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders:
Version 1.1

9 of 26
35%
3 reviewers Download

Fetal hydrops

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

Relevant disorders:
Version 1.15

68 of 68
100%

STRs: 1
7 reviewers Download

Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 1.6

20 of 20
100%
5 reviewers Download

Cerebrovascular disorders

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

Relevant disorders: Vein of Galen malformation, Cerebral vascular malformations, Cerebral arteriovenous malformations, Moyamoya disease
Version 1.34

93 of 93
100%
4 reviewers Download

Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)

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

Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)
Version 1.14

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 1.77

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 1.13

48 of 49
98%

Regions: 1
4 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

Early onset familial premature ovarian insufficiency

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

Relevant disorders: Early onset familial premature ovarian failure
Version 1.12

57 of 57
100%

STRs: 1
7 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
Version 1.19

82 of 169
49%

Regions: 3
5 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

Genetic Epilepsies with Febrile Seizures Plus (GEFS+)

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

Relevant disorders: Genetic Epilepsies with Febrile Seizures Plus
Version 1.9

6 of 6
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
Version 1.38

114 of 118
97%

Regions: 4
9 reviewers Download

Hereditary spastic paraplegia

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

Relevant disorders:
Version 1.67

86 of 91
95%
13 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
Version 1.41

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), Insulin resistance (including lipodystrophy
Version 1.3

24 of 24
100%
4 reviewers Download

Inherited bleeding disorders

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

Relevant disorders: Inherited platelet disorders, Monogenic thrombophilia, Bleeding and platelet disorders, Inherited bleeding and or platelet disorders, Unprovoked Thrombosis before 40, Monogenic venous thrombosis
Version 1.145

109 of 115
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%
7 reviewers Download

Hydrocephalus

Version 1.23

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 1.8

76 of 76
100%

STRs: 1
7 reviewers Download

Single autosomal recessive mutation in rare disease

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

Relevant disorders:
Version 0.2

0
0%
0 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

Relevant disorders:
Version 1.11

44 of 44
100%
5 reviewers Download

Inherited optic neuropathies

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.22

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 1.49

59 of 110
54%
12 reviewers Download

Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders

Relevant disorders: PAH
Version 1.36

17 of 17
100%
4 reviewers Download

Osteogenesis Imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Osteogenesis imperfecta
Version 1.12

181 of 181
100%
9 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

Relevant disorders:
Version 1.3

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

Relevant disorders:
Version 1.15

47 of 47
100%
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

Ductal plate malformation (DPM)

Version 0.32

47 of 148
32%
1 reviewer 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 1.33

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 Ventricular Tachycardia

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.2

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

Fetal structural CNS abnormalities

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

Relevant disorders:
Version 0.4

1 of 1
100%
1 reviewer 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 1.1

12 of 12
100%
4 reviewers Download

Short QT syndrome


Relevant disorders:
Version 0.1

12 of 12
100%
2 reviewers Download

Congenital myopathy

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

Relevant disorders:
Version 1.60

93 of 96
97%

STRs: 1
Regions: 3
6 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 1.9

22 of 22
100%

STRs: 2
5 reviewers Download

Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.20

157 of 157
100%
8 reviewers Download

Congenital myaesthenia

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

Relevant disorders: Congenital myasthenia
Version 1.9

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 1.27

65 of 66
98%

Regions: 1
9 reviewers Download

Distal myopathies

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

Relevant disorders:
Version 1.6

28 of 28
100%

STRs: 1
2 reviewers Download

Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Resistance to thyroid hormone
Version 1.5

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

Familial Genetic Generalised Epilepsies

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

Relevant disorders:
Version 1.23

16 of 25
64%
5 reviewers Download

Paediatric congenital malformation-dysmorphism-tumour syndromes

Level 3: Childhood Tumours
Level 2: Tumour syndromes

Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndromes , Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome
Version 1.19

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 abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.4

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

Familial Focal Epilepsies

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

Relevant disorders:
Version 1.10

9 of 10
90%
4 reviewers Download

Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.0

51 of 51
100%
2 reviewers Download

GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes

Relevant disorders: Familial colon cancer, Multiple bowel polyps, Peutz-Jeghers syndrome, GI tract
Version 1.6

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 2.29

227 of 244
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 1.20

33 of 33
100%

STRs: 3
8 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 1.22

34 of 34
100%

STRs: 3
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
Version 1.5

38 of 38
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 1.29

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
Version 2.532

2040 of 2191
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 1.23

61 of 62
98%
8 reviewers Download

Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: neuropathic pain;Pain channelopathies
Version 1.2

24 of 24
100%
3 reviewers Download

Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders: Familial rhabdomyosarcoma or sarcoma
Version 1.0

18 of 18
100%
2 reviewers Download

Renal tubular acidosis

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

Relevant disorders:
Version 1.8

17 of 18
94%
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 1.8

29 of 30
97%

Regions: 1
4 reviewers Download

Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.19

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

Unexplained monogenic fetal disorders

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

Relevant disorders:
Version 0.3

0
0%
0 reviewers Download

Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Undiagnosed Metabolic Panel
Version 1.78

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

Posterior segment abnormalities

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: 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 1.86

234 of 313
75%
16 reviewers Download

Congenital hyperinsulinism

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

Relevant disorders: Hyperinsulinism
Version 1.3

11 of 11
100%
4 reviewers Download

Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Unexplained skeletal dysplasia
Version 1.128

411 of 529
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 1.7

8 of 8
100%
3 reviewers Download

Extreme early-onset hypertension

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

Relevant disorders:
Version 1.8

25 of 25
100%
4 reviewers Download

Intracerebral calcification disorders

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

Relevant disorders:
Version 1.10

25 of 25
100%
6 reviewers Download

Familial prostate cancer


Relevant disorders:
Version 1.1

14 of 14
100%
2 reviewers Download

Limb disorders

Version 0.275

150 of 216
69%
10 reviewers Download

Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders

Relevant disorders: Cholestasis
Version 1.2

90 of 91
99%

Regions: 1
11 reviewers Download

Pancreatitis

Version 0.20

5 of 14
36%
2 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 1.20

57 of 58
98%

Regions: 1
4 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 disorders


Relevant 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 1.27

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
Version 0.823

524 of 541
97%

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

Version 0.1

0
0%
0 reviewers Download

Hereditary ataxia - adult onset

Version 0.0

0
0%
Download

Inborn errors of metabolism

Version 0.0

0
0%
Download

Cardiac arrythmias

Version 0.0

0
0%
Download

Cardiomyopathies - including childhood onset

Version 0.0

0
0%
Download

Tumour predisposition - adult onset

Version 0.0

0
0%
Download

Molecular autopsy

Version 0.0

0
0%
Download

Monogenic diabetes

Version 0.0

0
0%
Download

Growth failure in early childhood

Version 0.0

0
0%
Download

Neurodegenerative disorders - adult onset

Version 0.0

0
0%
Download

Dystonia - childhood onset

Version 0.0

0
0%
Download

White matter disorders and cerebral calcification - narrow panel

Version 0.0

0
0%
Download

Ataxia and cerebellar anomalies - narrow panel

Version 0.0

0
0%
Download

Familial hyperparathyroidism

Version 0.0

0
0%
Download

Hypocalciuric hypercalcaemia

Version 0.0

0
0%
Download

Hypophosphataemia or rickets

Version 0.0

0
0%
Download

Pituitary hormone deficiency

Version 0.0

0
0%
Download

Skin disorders

Version 0.0

0
0%
Download