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 KiB35
Brugada Syndrome22.9 KiB38
Catecholaminergic Polymorphic Ventricular Tachycardia20.3 KiB30
Dilated Cardiomyopathy And Conduction Defects20.0 KiB32
Dilated Cardiomyopathy22.6 KiB35
Familial Hypercholesterolaemia18.9 KiB32
Familial Cerebral Small Vessel Disease22.0 KiB31
Familial Congenital Heart Disease20.6 KiB29
Familial Thoracic Aortic Aneurysm Disease22.5 KiB35
Hypertrophic Cardiomyopathy20.0 KiB32
Idiopathic Ventricular Fibrillation20.9 KiB32
Left Ventricular Noncompaction Cardiomyopathy22.8 KiB28
Lipoedema Disease22.0 KiB11
Long QT Syndrome22.8 KiB31
Lymphoedema Distichiasis22.3 KiB31
Meige Disease21.4 KiB29
Milroy Disease22.6 KiB29
Primary Lymphoedema24.5 KiB12
Pulmonary Arterial Hypertension22.5 KiB15
Severe Hypertriglyceridaemia18.9 KiB34
Short QT Syndrome22.3 KiB11
Syndromic Congenital Heart Disease20.7 KiB28
Unexplained Sudden Death In The Young21.1 KiB39
Ciliopathies
Bardet-Biedl Syndrome22.1 KiB32
Joubert Syndrome21.1 KiB27
Non-CF Bronchiectasis21.8 KiB32
Primary Ciliary Dyskinesia20.7 KiB32
Rare Multisystem Ciliopathy Disorders21.0 KiB30
Dermatological disorders
Autosomal Recessive Congenital Icthyosis21.6 KiB28
Ectodermal Dysplasia Without A Known Gene Mutation21.0 KiB26
Epidermolysis Bullosa24.0 KiB28
Erythropoietic Protoporphyria, Mild Variant18.7 KiB31
Familial Cicatricial Alopecia21.1 KiB35
Familial Disseminated Superficial Actinic Porokeratosis17.3 KiB32
Familial Hidradenitis Suppurativa17.6 KiB37
Generalised Pustular Psoriasis18.8 KiB25
Hydroa Vacciniforme19.1 KiB35
Non-syndromic Hypotrichosis21.9 KiB32
Palmoplantar Keratoderma And Erythrokeratodermas21.2 KiB28
Peeling Skin Syndrome22.4 KiB31
Severe Multi-system Atopic Disease With High IgE15.9 KiB34
Undiagnosed Neurocutaneous Disorders19.1 KiB27
Dysmorphic and congenital abnormality syndromes
Balanced Translocations With An Unusual Phenotype23.3 KiB27
Cardio-facio-cutaneous Syndrome24.9 KiB27
Coarse Facial Features Including Coffin-Siris-like Disorders24.1 KiB30
Cockayne Syndrome23.1 KiB25
Costello Syndrome27.7 KiB25
Familial Non-syndromic Cleft Lip And Or Familial Cleft Palate25.5 KiB31
Fetal Hydrops23.7 KiB33
Kabuki Syndrome23.3 KiB28
Legius Syndrome27.7 KiB31
LEOPARD Syndrome27.6 KiB30
Non-Fanconi Anaemia24.0 KiB26
Noonan Syndrome Plus Other Features24.8 KiB25
Noonan Syndrome24.9 KiB27
PHACE(S) Syndrome22.9 KiB30
Primary Microcephaly - Microcephalic Dwarfism Spectrum22.8 KiB29
Radial Dysplasia23.7 KiB34
Syndromic Cleft Lip And Or Cleft Palate23.0 KiB28
Unexplained Monogenic Fetal Disorders22.3 KiB38
VACTERL-like Phenotypes24.7 KiB28
Vici Syndrome And Other Autophagy Disorders28.0 KiB25
Xeroderma Pigmentosum-like Disorders25.8 KiB30
Endocrine disorders
Congenital Adrenal Hypoplasia21.1 KiB35
Congenital Hypothyroidism26.1 KiB34
Diabetes With Additional Phenotypes Suggestive Of A Monogenic Aetiology23.3 KiB30
Disorders Of Sex Development27.7 KiB31
Early Onset Familial Premature Ovarian Insufficiency25.3 KiB27
Familial Or Syndromic Hypoparathyroidism21.3 KiB26
Familial Young-onset Non-insulin-dependent Diabetes23.4 KiB24
Hyperinsulinism21.4 KiB26
Idiopathic Hypogonadotropic Hypogonadism21.5 KiB41
Insulin Resistance (including Lipodystrophy)23.3 KiB19
IUGR And IGF Abnormalities22.7 KiB18
Multi-organ Autoimmune Diabetes23.2 KiB29
Neonatal Diabetes Diagnosed (diagnosed Less Than 6 Months Of Age)23.1 KiB19
Resistance To Thyroid Hormone26.1 KiB26
Significant Early-onset Obesity With Or Without Other Endocrine Features And Short Stature22.9 KiB29
Gastroenterological disorders
Ductal Plate Malformation22.6 KiB7
Early Onset Or Familial Intestinal Pseudo Obstruction19.0 KiB16
Familial Hirschsprung Disease22.8 KiB8
Gastrointestinal Epithelial Barrier Disorders19.0 KiB25
Infantile Enterocolitis And Monogenic Inflammatory Bowel Disease21.5 KiB15
Non-syndromic Familial Congenital Anorectal Malformation21.1 KiB21
Growth disorders
Atypical Beckwith-Wiedemann Syndrome25.7 KiB27
Classical Beckwith-Wiedemann Syndrome28.4 KiB28
Silver Russell Syndrome22.5 KiB20
Simpson-Golabi-Behmel Syndrome25.6 KiB24
Sotos Syndrome28.3 KiB26
Weaver Syndrome28.2 KiB30
Haematological disorders
A- Or Hypo-gammaglobulinemia26.1 KiB27
Agranulocytosis23.5 KiB18
Apparent Aplastic Anaemia Or Paroxysmal Nocturnal Haemoglobinuria24.1 KiB18
Combined B And T Cell Defect23.5 KiB19
Congenital Anaemias22.8 KiB21
Congenital Neutropaenia23.5 KiB27
Early Onset Pancytopenia And Red Cell Disorders22.8 KiB17
Familial Haemophagocytic Lymphohistiocytic Disorders23.2 KiB20
Hereditary Erythrocytosis22.7 KiB8
Inherited Bleeding And Or Platelet Disorders22.9 KiB6
Inherited Complement Deficiency22.6 KiB20
Monogenic Venous Thrombosis22.0 KiB8
Primary Immunodeficiency26.1 KiB7
SCID23.6 KiB18
Hearing and ear disorders
Auditory Neuropathy Spectrum Disorder24.2 KiB19
Autosomal Dominant Deafness21.6 KiB19
Bilateral Microtia22.9 KiB19
Congenital Hearing Impairment24.7 KiB21
Ear Malformations With Hearing Impairment23.0 KiB35
Familial Hemifacial Microsomia22.9 KiB20
Infectious disorders
Disseminated Non-tuberculous Mycobacterial Infection20.0 KiB30
GAinS Study21.3 KiB7
Metabolic disorders
Cerebral Folate Deficiency26.2 KiB20
Congenital Disorders Of Glycosylation26.3 KiB21
Hyperammonaemia24.5 KiB19
Ketotic Hypoglycaemia26.2 KiB18
Lactic Acidosis26.3 KiB21
Mitochondrial Disorders24.7 KiB21
Mucopolysaccharideosis, Gaucher, Fabry24.3 KiB20
Other Peroxisomal Disorders24.5 KiB21
Peroxisomal Biogenesis Disorders24.5 KiB27
Severe Familial Anorexia25.5 KiB21
Undiagnosed Metabolic Disorders26.2 KiB20
Neurology and neurodevelopmental disorders
Amyotrophic Lateral Sclerosis Or Motor Neuron Disease26.1 KiB20
Arthrogryosis25.1 KiB20
Brain Channelopathy21.3 KiB20
Cerebellar Hypoplasia23.5 KiB22
Charcot-Marie-Tooth Disease22.9 KiB28
Classical Tuberous Sclerosis25.6 KiB20
Complex Parkinsonism (includes Pallido-pyramidal Syndromes)26.2 KiB16
Congenital Muscular Dystophy25.0 KiB21
Congenital Myaesthenia25.1 KiB19
Congenital Myopathy25.1 KiB18
Distal Myopathies25.3 KiB20
Early Onset And Familial Parkinson's Disease28.9 KiB24
Early Onset Dementia (encompassing Fronto-temporal Dementia And Prion Disease)26.8 KiB23
Early Onset Dystonia22.8 KiB18
Epilepsy Plus Other Features25.6 KiB17
Epileptic Encephalopathy24.5 KiB20
Familial Focal Epilepsies25.8 KiB19
Familial Genetic Generalised Epilepsies24.5 KiB18
Fetal Structural CNS Abnormalities25.3 KiB20
Genetic Epilepsies With Febrile Seizures Plus26.9 KiB24
Hereditary Ataxia22.7 KiB24
Hereditary Spastic Paraplegia23.3 KiB27
Holoprosencephaly24.6 KiB23
Inherited White Matter Disorders27.6 KiB20
Intellectual Disability25.2 KiB21
Intracerebral Calcification Disorders24.0 KiB22
Kleine-Levin Syndrome And Other Inherited Sleep Disorders21.6 KiB23
Limb Girdle Muscular Dystrophy Myopathy25.4 KiB18
Malformations Of Corticol Development25.6 KiB24
Moyamoya Disease22.5 KiB18
Neurotransmitter Disorders21.9 KiB18
Paediatric Motor Neuropathies23.8 KiB26
Pontine Tegmental Cap Dysplasia22.7 KiB7
Rhabdomyolysis And Metabolic Muscle Disorders24.3 KiB22
Rhomboencephalosynapsis27.3 KiB22
Skeletal Muscle Channelopathies23.3 KiB17
Structural Basal Ganglia Disorders22.2 KiB26
Vein Of Galen Malformation21.0 KiB21
Ophthalmological disorders
Anophthalmia Or Microphthamia24.6 KiB25
Cataracts23.6 KiB25
Cone Dysfunction Syndrome23.7 KiB18
Corneal Abnormalities23.8 KiB30
Developmental Macular And Foveal Dystrophy23.8 KiB19
Familial Exudative Vitreoretinopathy23.8 KiB16
Glaucoma (developmental)23.4 KiB18
Infantile Nystagmus22.9 KiB24
Inherited Macular Dystrophy23.7 KiB17
Inherited Optic Neuropathies23.1 KiB24
Leber Congenital Amaurosis Or Early-Onset Severe Retinal Dystrophy23.8 KiB25
Ocular Coloboma25.5 KiB21
Rod-cone Dystrophy23.7 KiB27
Rod Dysfunction Syndrome23.7 KiB21
Renal and urinary tract disorders
Atypical Haemolytic Uraemic Syndrome19.1 KiB20
CAKUT23.1 KiB23
Cystic Kidney Disease20.2 KiB21
Extreme Early-onset Hypertension18.7 KiB21
Familial Haematuria23.2 KiB22
Primary Membranoproliferative Glomerulonephritis23.0 KiB7
Proteinuric Renal Disease20.0 KiB22
Renal Tract Calcification (or Nephrolithiasis Or Nephrocalcinosis)22.2 KiB23
Renal Tubular Acidosis21.3 KiB24
Unexplained Kidney Failure In Young People21.3 KiB18
Respiratory disorders
Familial And Multiple Pulmonary Arteriovenous Malformations24.1 KiB17
Familial Primary Spontaneous Pneumothorax22.1 KiB18
Familial Pulmonary Fibrosis21.9 KiB18
Hereditary Haemorrhagic Telangiectasia22.9 KiB21
Rheumatological disorders
Classical Ehlers-Danlos Syndrome21.2 KiB22
Juvenile Dermatomyositis22.6 KiB25
Kyphoscoliotic Ehlers-Danlos Syndrome22.9 KiB18
Periodic Fever Syndromes And Amyloidosis21.2 KiB19
Skeletal disorders
Amelogenesis Imperfecta22.8 KiB10
Choanal Atresia22.8 KiB21
Chondrodysplasia Punctata25.2 KiB27
Craniosynostosis Syndromes22.0 KiB21
Multiple Epiphyseal Dysplasia21.4 KiB24
Osteogenesis Imperfecta24.7 KiB20
Stickler Syndrome25.0 KiB20
Thoracic Dystrophies23.4 KiB23
Unexplained Skeletal Dysplasia24.2 KiB24
Tumour syndromes
Exceptionally Young Adult Onset Cancer25.4 KiB20
Familial Breast Cancer19.7 KiB26
Familial Colon Cancer21.1 KiB16
Familial Rhabdomyosarcoma Or Sarcoma24.9 KiB24
Familial Tumour Syndromes Of The Central And Peripheral Nervous System23.9 KiB19
Genodermatoses With Malignancies22.7 KiB17
Inherited Non-medullary Thyroid Cancer20.8 KiB23
Multiple Bowel Polyps20.4 KiB23
Multiple Endocrine Tumours22.6 KiB21
Multiple Tumours23.1 KiB24
Neuro-endocrine Tumours- PCC And PGL22.6 KiB20
Neurofibromatosis Type 124.3 KiB19
Paediatric Congenital Malformation-dysmorphism-tumour Syndromes23.9 KiB22
Parathyroid Cancer20.1 KiB24
Peutz-Jeghers Syndrome21.5 KiB26
Ultra-rare disorders
Neonatal Or Paediatric Intensive Care Admission With A Likely Monogenic Disease20.8 KiB19
Single Autosomal Recessive Mutation In Rare Disease19.8 KiB21
Ultra-rare Undescribed Mongenic Disorders19.5 KiB21
Undiagnosed Monogenic Disorder Seen In A Specialist Genetics Clinic20.9 KiB18