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 KiB53
Brugada Syndrome22.9 KiB49
Catecholaminergic Polymorphic Ventricular Tachycardia20.3 KiB47
Dilated Cardiomyopathy And Conduction Defects20.0 KiB44
Dilated Cardiomyopathy22.6 KiB53
Familial Hypercholesterolaemia18.9 KiB47
Familial Cerebral Small Vessel Disease22.0 KiB45
Familial Congenital Heart Disease20.6 KiB49
Familial Thoracic Aortic Aneurysm Disease22.5 KiB49
Hypertrophic Cardiomyopathy20.0 KiB46
Idiopathic Ventricular Fibrillation20.9 KiB48
Left Ventricular Noncompaction Cardiomyopathy22.8 KiB45
Lipoedema Disease22.0 KiB26
Long QT Syndrome22.8 KiB47
Lymphoedema Distichiasis22.3 KiB48
Meige Disease21.4 KiB45
Milroy Disease22.6 KiB46
Primary Lymphoedema24.5 KiB25
Pulmonary Arterial Hypertension22.5 KiB27
Severe Hypertriglyceridaemia18.9 KiB50
Short QT Syndrome22.3 KiB28
Syndromic Congenital Heart Disease20.7 KiB49
Unexplained Sudden Death In The Young21.1 KiB54
Ciliopathies
Bardet-Biedl Syndrome22.1 KiB47
Joubert Syndrome21.1 KiB42
Non-CF Bronchiectasis21.8 KiB48
Primary Ciliary Dyskinesia20.7 KiB48
Rare Multisystem Ciliopathy Disorders21.0 KiB46
Dermatological disorders
Autosomal Recessive Congenital Icthyosis21.6 KiB43
Ectodermal Dysplasia Without A Known Gene Mutation21.0 KiB41
Epidermolysis Bullosa24.0 KiB44
Erythropoietic Protoporphyria, Mild Variant18.7 KiB47
Familial Cicatricial Alopecia21.1 KiB51
Familial Disseminated Superficial Actinic Porokeratosis17.3 KiB48
Familial Hidradenitis Suppurativa17.6 KiB53
Generalised Pustular Psoriasis18.8 KiB41
Hydroa Vacciniforme19.1 KiB49
Non-syndromic Hypotrichosis21.9 KiB47
Palmoplantar Keratoderma And Erythrokeratodermas21.2 KiB44
Peeling Skin Syndrome22.4 KiB44
Severe Multi-system Atopic Disease With High IgE15.9 KiB51
Undiagnosed Neurocutaneous Disorders19.1 KiB43
Dysmorphic and congenital abnormality syndromes
Balanced Translocations With An Unusual Phenotype23.3 KiB40
Cardio-facio-cutaneous Syndrome24.9 KiB42
Coarse Facial Features Including Coffin-Siris-like Disorders24.1 KiB45
Cockayne Syndrome23.1 KiB40
Costello Syndrome27.7 KiB42
Familial Non-syndromic Cleft Lip And Or Familial Cleft Palate25.5 KiB46
Fetal Hydrops23.7 KiB48
Kabuki Syndrome23.3 KiB45
Legius Syndrome27.7 KiB44
LEOPARD Syndrome27.6 KiB44
Non-Fanconi Anaemia24.0 KiB39
Noonan Syndrome Plus Other Features24.8 KiB44
Noonan Syndrome24.9 KiB43
PHACE(S) Syndrome22.9 KiB41
Primary Microcephaly - Microcephalic Dwarfism Spectrum22.8 KiB44
Radial Dysplasia23.7 KiB49
Syndromic Cleft Lip And Or Cleft Palate23.0 KiB40
Unexplained Monogenic Fetal Disorders22.3 KiB54
VACTERL-like Phenotypes24.7 KiB42
Vici Syndrome And Other Autophagy Disorders28.0 KiB37
Xeroderma Pigmentosum-like Disorders25.8 KiB48
Endocrine disorders
Congenital Adrenal Hypoplasia21.1 KiB51
Congenital Hypothyroidism26.1 KiB50
Diabetes With Additional Phenotypes Suggestive Of A Monogenic Aetiology23.3 KiB45
Disorders Of Sex Development27.7 KiB46
Early Onset Familial Premature Ovarian Insufficiency25.3 KiB41
Familial Or Syndromic Hypoparathyroidism21.3 KiB36
Familial Young-onset Non-insulin-dependent Diabetes23.4 KiB37
Hyperinsulinism21.4 KiB38
Idiopathic Hypogonadotropic Hypogonadism21.5 KiB54
Insulin Resistance (including Lipodystrophy)23.3 KiB30
IUGR And IGF Abnormalities22.7 KiB29
Multi-organ Autoimmune Diabetes23.2 KiB41
Neonatal Diabetes Diagnosed (diagnosed Less Than 6 Months Of Age)23.1 KiB31
Resistance To Thyroid Hormone26.1 KiB36
Significant Early-onset Obesity With Or Without Other Endocrine Features And Short Stature22.9 KiB38
Gastroenterological disorders
Ductal Plate Malformation22.6 KiB20
Early Onset Or Familial Intestinal Pseudo Obstruction19.0 KiB29
Familial Hirschsprung Disease22.8 KiB18
Gastrointestinal Epithelial Barrier Disorders19.0 KiB42
Infantile Enterocolitis And Monogenic Inflammatory Bowel Disease21.5 KiB28
Non-syndromic Familial Congenital Anorectal Malformation21.1 KiB34
Growth disorders
Atypical Beckwith-Wiedemann Syndrome25.7 KiB41
Classical Beckwith-Wiedemann Syndrome28.4 KiB41
Silver Russell Syndrome22.5 KiB33
Simpson-Golabi-Behmel Syndrome25.6 KiB36
Sotos Syndrome28.3 KiB38
Weaver Syndrome28.2 KiB46
Haematological disorders
A- Or Hypo-gammaglobulinemia26.1 KiB38
Agranulocytosis23.5 KiB30
Apparent Aplastic Anaemia Or Paroxysmal Nocturnal Haemoglobinuria24.1 KiB29
Combined B And T Cell Defect23.5 KiB32
Congenital Anaemias22.8 KiB33
Congenital Neutropaenia23.5 KiB38
Early Onset Pancytopenia And Red Cell Disorders22.8 KiB29
Familial Haemophagocytic Lymphohistiocytic Disorders23.2 KiB30
Hereditary Erythrocytosis22.7 KiB18
Inherited Bleeding And Or Platelet Disorders22.9 KiB17
Inherited Complement Deficiency22.6 KiB29
Monogenic Venous Thrombosis22.0 KiB22
Primary Immunodeficiency26.1 KiB21
SCID23.6 KiB30
Hearing and ear disorders
Auditory Neuropathy Spectrum Disorder24.2 KiB29
Autosomal Dominant Deafness21.6 KiB30
Bilateral Microtia22.9 KiB31
Congenital Hearing Impairment24.7 KiB31
Ear Malformations With Hearing Impairment23.0 KiB46
Familial Hemifacial Microsomia22.9 KiB30
Infectious disorders
Disseminated Non-tuberculous Mycobacterial Infection20.0 KiB41
GAinS Study21.3 KiB17
Metabolic disorders
Cerebral Folate Deficiency26.2 KiB31
Congenital Disorders Of Glycosylation26.3 KiB33
Hyperammonaemia24.5 KiB30
Ketotic Hypoglycaemia26.2 KiB29
Lactic Acidosis26.3 KiB31
Mitochondrial Disorders24.7 KiB31
Mucopolysaccharideosis, Gaucher, Fabry24.3 KiB30
Other Peroxisomal Disorders24.5 KiB32
Peroxisomal Biogenesis Disorders24.5 KiB36
Severe Familial Anorexia25.5 KiB30
Undiagnosed Metabolic Disorders26.2 KiB34
Neurology and neurodevelopmental disorders
Amyotrophic Lateral Sclerosis Or Motor Neuron Disease26.1 KiB27
Arthrogryosis25.1 KiB30
Brain Channelopathy21.3 KiB30
Cerebellar Hypoplasia23.5 KiB32
Charcot-Marie-Tooth Disease22.9 KiB40
Classical Tuberous Sclerosis25.6 KiB32
Complex Parkinsonism (includes Pallido-pyramidal Syndromes)26.2 KiB26
Congenital Muscular Dystophy25.0 KiB30
Congenital Myaesthenia25.1 KiB31
Congenital Myopathy25.1 KiB29
Distal Myopathies25.3 KiB31
Early Onset And Familial Parkinson's Disease28.9 KiB34
Early Onset Dementia (encompassing Fronto-temporal Dementia And Prion Disease)26.8 KiB37
Early Onset Dystonia22.8 KiB29
Epilepsy Plus Other Features25.6 KiB30
Epileptic Encephalopathy24.5 KiB30
Familial Focal Epilepsies25.8 KiB28
Familial Genetic Generalised Epilepsies24.5 KiB29
Fetal Structural CNS Abnormalities25.3 KiB29
Genetic Epilepsies With Febrile Seizures Plus26.9 KiB36
Hereditary Ataxia22.7 KiB32
Hereditary Spastic Paraplegia23.3 KiB41
Holoprosencephaly24.6 KiB33
Inherited White Matter Disorders27.6 KiB31
Intellectual Disability25.2 KiB35
Intracerebral Calcification Disorders24.0 KiB33
Kleine-Levin Syndrome And Other Inherited Sleep Disorders21.6 KiB32
Limb Girdle Muscular Dystrophy Myopathy25.4 KiB31
Malformations Of Corticol Development25.6 KiB34
Moyamoya Disease22.5 KiB30
Neurotransmitter Disorders21.9 KiB29
Paediatric Motor Neuropathies23.8 KiB37
Pontine Tegmental Cap Dysplasia22.7 KiB16
Rhabdomyolysis And Metabolic Muscle Disorders24.3 KiB31
Rhomboencephalosynapsis27.3 KiB34
Skeletal Muscle Channelopathies23.3 KiB29
Structural Basal Ganglia Disorders22.2 KiB42
Vein Of Galen Malformation21.0 KiB29
Ophthalmological disorders
Anophthalmia Or Microphthamia24.6 KiB37
Cataracts23.6 KiB39
Cone Dysfunction Syndrome23.7 KiB32
Corneal Abnormalities23.8 KiB42
Developmental Macular And Foveal Dystrophy23.8 KiB31
Familial Exudative Vitreoretinopathy23.8 KiB29
Glaucoma (developmental)23.4 KiB29
Infantile Nystagmus22.9 KiB37
Inherited Macular Dystrophy23.7 KiB30
Inherited Optic Neuropathies23.1 KiB34
Leber Congenital Amaurosis Or Early-Onset Severe Retinal Dystrophy23.8 KiB37
Ocular Coloboma25.5 KiB33
Rod-cone Dystrophy23.7 KiB40
Rod Dysfunction Syndrome23.7 KiB33
Renal and urinary tract disorders
Atypical Haemolytic Uraemic Syndrome19.1 KiB29
CAKUT23.1 KiB35
Cystic Kidney Disease20.2 KiB36
Extreme Early-onset Hypertension18.7 KiB35
Familial Haematuria23.2 KiB32
Primary Membranoproliferative Glomerulonephritis23.0 KiB17
Proteinuric Renal Disease20.0 KiB33
Renal Tract Calcification (or Nephrolithiasis Or Nephrocalcinosis)22.2 KiB31
Renal Tubular Acidosis21.3 KiB35
Unexplained Kidney Failure In Young People21.3 KiB30
Respiratory disorders
Familial And Multiple Pulmonary Arteriovenous Malformations24.1 KiB26
Familial Primary Spontaneous Pneumothorax22.1 KiB27
Familial Pulmonary Fibrosis21.9 KiB30
Hereditary Haemorrhagic Telangiectasia22.9 KiB31
Rheumatological disorders
Classical Ehlers-Danlos Syndrome21.2 KiB35
Juvenile Dermatomyositis22.6 KiB36
Kyphoscoliotic Ehlers-Danlos Syndrome22.9 KiB31
Periodic Fever Syndromes And Amyloidosis21.2 KiB29
Skeletal disorders
Amelogenesis Imperfecta22.8 KiB16
Choanal Atresia22.8 KiB32
Chondrodysplasia Punctata25.2 KiB37
Craniosynostosis Syndromes22.0 KiB34
Multiple Epiphyseal Dysplasia21.4 KiB35
Osteogenesis Imperfecta24.7 KiB33
Stickler Syndrome25.0 KiB32
Thoracic Dystrophies23.4 KiB36
Unexplained Skeletal Dysplasia24.2 KiB33
Tumour syndromes
Exceptionally Young Adult Onset Cancer25.4 KiB30
Familial Breast Cancer19.7 KiB38
Familial Colon Cancer21.1 KiB27
Familial Rhabdomyosarcoma Or Sarcoma24.9 KiB37
Familial Tumour Syndromes Of The Central And Peripheral Nervous System23.9 KiB31
Genodermatoses With Malignancies22.7 KiB29
Inherited Non-medullary Thyroid Cancer20.8 KiB32
Multiple Bowel Polyps20.4 KiB34
Multiple Endocrine Tumours22.6 KiB33
Multiple Tumours23.1 KiB33
Neuro-endocrine Tumours- PCC And PGL22.6 KiB34
Neurofibromatosis Type 124.3 KiB32
Paediatric Congenital Malformation-dysmorphism-tumour Syndromes23.9 KiB34
Parathyroid Cancer20.1 KiB35
Peutz-Jeghers Syndrome21.5 KiB37
Ultra-rare disorders
Neonatal Or Paediatric Intensive Care Admission With A Likely Monogenic Disease20.8 KiB27
Single Autosomal Recessive Mutation In Rare Disease19.8 KiB32
Ultra-rare Undescribed Mongenic Disorders19.5 KiB33
Undiagnosed Monogenic Disorder Seen In A Specialist Genetics Clinic20.9 KiB29