Phenotyping


In order to make sense of the genome data, a detailed set of clinical data needs to be collected about the patient’s observed features and symptoms (their phenotype). For each approved disease in the project, a form asking about the presence or absence of a specified set of Human Phenotype Ontology (HPO) terms is requested from clinicians. HPO terms are a standardised way of describing clinical features and symptoms for clinicians.

  • Clinicians referring patients will be contacted to provide phenotypic information once the patient has consented to join the project.

OR

  • A phenotyping form can be submitted at the point of patient referral by emailing to eegmc@nhs.net. Please ensure that information is sent securely according to NHS information governance guidelines.

Below are downloadable phenotyping forms for each approved condition included in the project.

NameSizeHits
NameSizeHits
Cardiovascular disorders
Arrhythmogenic Right Ventricular Cardiomyopathy20.1 KiB43
Brugada Syndrome22.9 KiB42
Catecholaminergic Polymorphic Ventricular Tachycardia20.3 KiB36
Dilated Cardiomyopathy And Conduction Defects20.0 KiB37
Dilated Cardiomyopathy22.6 KiB44
Familial Hypercholesterolaemia18.9 KiB38
Familial Cerebral Small Vessel Disease22.0 KiB38
Familial Congenital Heart Disease20.6 KiB38
Familial Thoracic Aortic Aneurysm Disease22.5 KiB40
Hypertrophic Cardiomyopathy20.0 KiB39
Idiopathic Ventricular Fibrillation20.9 KiB38
Left Ventricular Noncompaction Cardiomyopathy22.8 KiB36
Lipoedema Disease22.0 KiB18
Long QT Syndrome22.8 KiB39
Lymphoedema Distichiasis22.3 KiB39
Meige Disease21.4 KiB35
Milroy Disease22.6 KiB38
Primary Lymphoedema24.5 KiB18
Pulmonary Arterial Hypertension22.5 KiB21
Severe Hypertriglyceridaemia18.9 KiB42
Short QT Syndrome22.3 KiB18
Syndromic Congenital Heart Disease20.7 KiB35
Unexplained Sudden Death In The Young21.1 KiB45
Ciliopathies
Bardet-Biedl Syndrome22.1 KiB39
Joubert Syndrome21.1 KiB34
Non-CF Bronchiectasis21.8 KiB41
Primary Ciliary Dyskinesia20.7 KiB40
Rare Multisystem Ciliopathy Disorders21.0 KiB37
Dermatological disorders
Autosomal Recessive Congenital Icthyosis21.6 KiB36
Ectodermal Dysplasia Without A Known Gene Mutation21.0 KiB35
Epidermolysis Bullosa24.0 KiB36
Erythropoietic Protoporphyria, Mild Variant18.7 KiB39
Familial Cicatricial Alopecia21.1 KiB42
Familial Disseminated Superficial Actinic Porokeratosis17.3 KiB39
Familial Hidradenitis Suppurativa17.6 KiB44
Generalised Pustular Psoriasis18.8 KiB33
Hydroa Vacciniforme19.1 KiB42
Non-syndromic Hypotrichosis21.9 KiB41
Palmoplantar Keratoderma And Erythrokeratodermas21.2 KiB36
Peeling Skin Syndrome22.4 KiB36
Severe Multi-system Atopic Disease With High IgE15.9 KiB40
Undiagnosed Neurocutaneous Disorders19.1 KiB36
Dysmorphic and congenital abnormality syndromes
Balanced Translocations With An Unusual Phenotype23.3 KiB33
Cardio-facio-cutaneous Syndrome24.9 KiB34
Coarse Facial Features Including Coffin-Siris-like Disorders24.1 KiB38
Cockayne Syndrome23.1 KiB34
Costello Syndrome27.7 KiB32
Familial Non-syndromic Cleft Lip And Or Familial Cleft Palate25.5 KiB38
Fetal Hydrops23.7 KiB41
Kabuki Syndrome23.3 KiB36
Legius Syndrome27.7 KiB37
LEOPARD Syndrome27.6 KiB34
Non-Fanconi Anaemia24.0 KiB32
Noonan Syndrome Plus Other Features24.8 KiB35
Noonan Syndrome24.9 KiB35
PHACE(S) Syndrome22.9 KiB35
Primary Microcephaly - Microcephalic Dwarfism Spectrum22.8 KiB36
Radial Dysplasia23.7 KiB40
Syndromic Cleft Lip And Or Cleft Palate23.0 KiB34
Unexplained Monogenic Fetal Disorders22.3 KiB46
VACTERL-like Phenotypes24.7 KiB34
Vici Syndrome And Other Autophagy Disorders28.0 KiB29
Xeroderma Pigmentosum-like Disorders25.8 KiB38
Endocrine disorders
Congenital Adrenal Hypoplasia21.1 KiB41
Congenital Hypothyroidism26.1 KiB42
Diabetes With Additional Phenotypes Suggestive Of A Monogenic Aetiology23.3 KiB36
Disorders Of Sex Development27.7 KiB39
Early Onset Familial Premature Ovarian Insufficiency25.3 KiB35
Familial Or Syndromic Hypoparathyroidism21.3 KiB32
Familial Young-onset Non-insulin-dependent Diabetes23.4 KiB30
Hyperinsulinism21.4 KiB32
Idiopathic Hypogonadotropic Hypogonadism21.5 KiB48
Insulin Resistance (including Lipodystrophy)23.3 KiB25
IUGR And IGF Abnormalities22.7 KiB25
Multi-organ Autoimmune Diabetes23.2 KiB35
Neonatal Diabetes Diagnosed (diagnosed Less Than 6 Months Of Age)23.1 KiB24
Resistance To Thyroid Hormone26.1 KiB31
Significant Early-onset Obesity With Or Without Other Endocrine Features And Short Stature22.9 KiB34
Gastroenterological disorders
Ductal Plate Malformation22.6 KiB12
Early Onset Or Familial Intestinal Pseudo Obstruction19.0 KiB22
Familial Hirschsprung Disease22.8 KiB13
Gastrointestinal Epithelial Barrier Disorders19.0 KiB33
Infantile Enterocolitis And Monogenic Inflammatory Bowel Disease21.5 KiB21
Non-syndromic Familial Congenital Anorectal Malformation21.1 KiB28
Growth disorders
Atypical Beckwith-Wiedemann Syndrome25.7 KiB31
Classical Beckwith-Wiedemann Syndrome28.4 KiB34
Silver Russell Syndrome22.5 KiB27
Simpson-Golabi-Behmel Syndrome25.6 KiB29
Sotos Syndrome28.3 KiB32
Weaver Syndrome28.2 KiB38
Haematological disorders
A- Or Hypo-gammaglobulinemia26.1 KiB33
Agranulocytosis23.5 KiB24
Apparent Aplastic Anaemia Or Paroxysmal Nocturnal Haemoglobinuria24.1 KiB23
Combined B And T Cell Defect23.5 KiB24
Congenital Anaemias22.8 KiB28
Congenital Neutropaenia23.5 KiB33
Early Onset Pancytopenia And Red Cell Disorders22.8 KiB23
Familial Haemophagocytic Lymphohistiocytic Disorders23.2 KiB24
Hereditary Erythrocytosis22.7 KiB12
Inherited Bleeding And Or Platelet Disorders22.9 KiB12
Inherited Complement Deficiency22.6 KiB24
Monogenic Venous Thrombosis22.0 KiB17
Primary Immunodeficiency26.1 KiB15
SCID23.6 KiB24
Hearing and ear disorders
Auditory Neuropathy Spectrum Disorder24.2 KiB25
Autosomal Dominant Deafness21.6 KiB24
Bilateral Microtia22.9 KiB25
Congenital Hearing Impairment24.7 KiB26
Ear Malformations With Hearing Impairment23.0 KiB40
Familial Hemifacial Microsomia22.9 KiB24
Infectious disorders
Disseminated Non-tuberculous Mycobacterial Infection20.0 KiB35
GAinS Study21.3 KiB11
Metabolic disorders
Cerebral Folate Deficiency26.2 KiB25
Congenital Disorders Of Glycosylation26.3 KiB27
Hyperammonaemia24.5 KiB24
Ketotic Hypoglycaemia26.2 KiB23
Lactic Acidosis26.3 KiB26
Mitochondrial Disorders24.7 KiB27
Mucopolysaccharideosis, Gaucher, Fabry24.3 KiB25
Other Peroxisomal Disorders24.5 KiB26
Peroxisomal Biogenesis Disorders24.5 KiB31
Severe Familial Anorexia25.5 KiB26
Undiagnosed Metabolic Disorders26.2 KiB27
Neurology and neurodevelopmental disorders
Amyotrophic Lateral Sclerosis Or Motor Neuron Disease26.1 KiB21
Arthrogryosis25.1 KiB24
Brain Channelopathy21.3 KiB24
Cerebellar Hypoplasia23.5 KiB26
Charcot-Marie-Tooth Disease22.9 KiB33
Classical Tuberous Sclerosis25.6 KiB28
Complex Parkinsonism (includes Pallido-pyramidal Syndromes)26.2 KiB19
Congenital Muscular Dystophy25.0 KiB25
Congenital Myaesthenia25.1 KiB26
Congenital Myopathy25.1 KiB23
Distal Myopathies25.3 KiB25
Early Onset And Familial Parkinson's Disease28.9 KiB28
Early Onset Dementia (encompassing Fronto-temporal Dementia And Prion Disease)26.8 KiB31
Early Onset Dystonia22.8 KiB23
Epilepsy Plus Other Features25.6 KiB23
Epileptic Encephalopathy24.5 KiB25
Familial Focal Epilepsies25.8 KiB23
Familial Genetic Generalised Epilepsies24.5 KiB24
Fetal Structural CNS Abnormalities25.3 KiB23
Genetic Epilepsies With Febrile Seizures Plus26.9 KiB29
Hereditary Ataxia22.7 KiB27
Hereditary Spastic Paraplegia23.3 KiB35
Holoprosencephaly24.6 KiB28
Inherited White Matter Disorders27.6 KiB26
Intellectual Disability25.2 KiB30
Intracerebral Calcification Disorders24.0 KiB26
Kleine-Levin Syndrome And Other Inherited Sleep Disorders21.6 KiB27
Limb Girdle Muscular Dystrophy Myopathy25.4 KiB24
Malformations Of Corticol Development25.6 KiB30
Moyamoya Disease22.5 KiB24
Neurotransmitter Disorders21.9 KiB23
Paediatric Motor Neuropathies23.8 KiB30
Pontine Tegmental Cap Dysplasia22.7 KiB11
Rhabdomyolysis And Metabolic Muscle Disorders24.3 KiB25
Rhomboencephalosynapsis27.3 KiB28
Skeletal Muscle Channelopathies23.3 KiB21
Structural Basal Ganglia Disorders22.2 KiB34
Vein Of Galen Malformation21.0 KiB24
Ophthalmological disorders
Anophthalmia Or Microphthamia24.6 KiB30
Cataracts23.6 KiB33
Cone Dysfunction Syndrome23.7 KiB25
Corneal Abnormalities23.8 KiB36
Developmental Macular And Foveal Dystrophy23.8 KiB26
Familial Exudative Vitreoretinopathy23.8 KiB22
Glaucoma (developmental)23.4 KiB25
Infantile Nystagmus22.9 KiB32
Inherited Macular Dystrophy23.7 KiB24
Inherited Optic Neuropathies23.1 KiB29
Leber Congenital Amaurosis Or Early-Onset Severe Retinal Dystrophy23.8 KiB31
Ocular Coloboma25.5 KiB28
Rod-cone Dystrophy23.7 KiB34
Rod Dysfunction Syndrome23.7 KiB27
Renal and urinary tract disorders
Atypical Haemolytic Uraemic Syndrome19.1 KiB24
CAKUT23.1 KiB29
Cystic Kidney Disease20.2 KiB29
Extreme Early-onset Hypertension18.7 KiB25
Familial Haematuria23.2 KiB28
Primary Membranoproliferative Glomerulonephritis23.0 KiB11
Proteinuric Renal Disease20.0 KiB27
Renal Tract Calcification (or Nephrolithiasis Or Nephrocalcinosis)22.2 KiB26
Renal Tubular Acidosis21.3 KiB29
Unexplained Kidney Failure In Young People21.3 KiB25
Respiratory disorders
Familial And Multiple Pulmonary Arteriovenous Malformations24.1 KiB21
Familial Primary Spontaneous Pneumothorax22.1 KiB22
Familial Pulmonary Fibrosis21.9 KiB25
Hereditary Haemorrhagic Telangiectasia22.9 KiB25
Rheumatological disorders
Classical Ehlers-Danlos Syndrome21.2 KiB28
Juvenile Dermatomyositis22.6 KiB31
Kyphoscoliotic Ehlers-Danlos Syndrome22.9 KiB25
Periodic Fever Syndromes And Amyloidosis21.2 KiB23
Skeletal disorders
Amelogenesis Imperfecta22.8 KiB12
Choanal Atresia22.8 KiB26
Chondrodysplasia Punctata25.2 KiB31
Craniosynostosis Syndromes22.0 KiB27
Multiple Epiphyseal Dysplasia21.4 KiB30
Osteogenesis Imperfecta24.7 KiB26
Stickler Syndrome25.0 KiB26
Thoracic Dystrophies23.4 KiB30
Unexplained Skeletal Dysplasia24.2 KiB28
Tumour syndromes
Exceptionally Young Adult Onset Cancer25.4 KiB25
Familial Breast Cancer19.7 KiB32
Familial Colon Cancer21.1 KiB23
Familial Rhabdomyosarcoma Or Sarcoma24.9 KiB31
Familial Tumour Syndromes Of The Central And Peripheral Nervous System23.9 KiB26
Genodermatoses With Malignancies22.7 KiB23
Inherited Non-medullary Thyroid Cancer20.8 KiB27
Multiple Bowel Polyps20.4 KiB27
Multiple Endocrine Tumours22.6 KiB28
Multiple Tumours23.1 KiB28
Neuro-endocrine Tumours- PCC And PGL22.6 KiB26
Neurofibromatosis Type 124.3 KiB26
Paediatric Congenital Malformation-dysmorphism-tumour Syndromes23.9 KiB28
Parathyroid Cancer20.1 KiB29
Peutz-Jeghers Syndrome21.5 KiB31
Ultra-rare disorders
Neonatal Or Paediatric Intensive Care Admission With A Likely Monogenic Disease20.8 KiB21
Single Autosomal Recessive Mutation In Rare Disease19.8 KiB25
Ultra-rare Undescribed Mongenic Disorders19.5 KiB27
Undiagnosed Monogenic Disorder Seen In A Specialist Genetics Clinic20.9 KiB22