Knowledge Hub
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine.
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A
- Achondroplasia Conditions
- ACKR1/DARC-associated neutropenia Conditions
- Acrodermatitis enteropathica Conditions
- Acute hepatic porphyria Conditions
- ADA-associated severe combined immunodeficiency Conditions
- Adrenocortical carcinoma Conditions
- Agammaglobulinaemia types 1-10 Conditions
- Alpha-1 antitrypsin deficiency Conditions
- Alport syndrome and thin basement membrane nephropathy Conditions
- Aminoglycoside antibiotics Therapies
- Amniocentesis Technologies
- Anencephaly Conditions
- Angelman syndrome Conditions
- APOL1-mediated kidney disease Conditions
- ARPC1B deficiency Conditions
- Arrhythmogenic right ventricular cardiomyopathy Conditions
- Ataxia telangiectasia Conditions
- Atezolizumab Therapies
- ATM-associated cancer risk Conditions
- Autism spectrum disorder Conditions
- Autoimmune lymphoproliferative syndrome Conditions
- Autoimmune polyendocrine syndrome type 1 Conditions
- Autosomal dominant inheritance Core concepts
- Autosomal dominant polycystic kidney disease Conditions
- Autosomal recessive inheritance Core concepts
- Autosomal recessive polycystic kidney disease Conditions
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B
- Barth syndrome Conditions
- Becker muscular dystrophy Conditions
- Beckwith-Wiedemann syndrome Conditions
- Birt-Hogg-Dubé syndrome Conditions
- BRCA1 and BRCA2 Genes
- Breast cancer Conditions
- Brugada syndrome Conditions
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C
- Canavan disease Conditions
- CanRisk Genomics in action
- Carbamazepine Therapies
- Carney complex Conditions
- Catecholaminergic polymorphic ventricular tachycardia Conditions
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Conditions
- Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies Conditions
- CHARGE syndrome Conditions
- Chorionic villus sampling Technologies
- Chromosomal conditions Core concepts
- Chronic granulomatous disease Conditions
- Circulating tumour DNA for cancer patients Technologies
- Clinical genetics services map Genomics in action
- Clinical trials and early access programmes in rare disease Genomics in action
- Clinical trials in cancer Genomics in action
- Clopidogrel Therapies
- Coarctation of the aorta Conditions
- Cohen syndrome Conditions
- Colorectal cancer Conditions
- Combined first-trimester screening Technologies
- Combined pituitary hormone deficiency Conditions
- Common aneuploidy testing (QF-PCR) Technologies
- Congenital adrenal hyperplasia Conditions
- Congenital diaphragmatic hernia Conditions
- Congenital hypogonadotropic hypogonadism Conditions
- Congenital muscular dystrophy Conditions
- Consent conversation for genomic testing Genomics in action
- Constitutional (germline) vs somatic (tumour) variants Core concepts
- Copy number variants Core concepts
- Cryopyrin-associated periodic syndrome and related inflammasomopathies Conditions
- CYP2C19 Genes
- CYP2D6 Genes
- Cystic fibrosis Conditions
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D
- Deficiency of adenosine deaminase 2 (DADA2) Conditions
- Deficiency of interleukin-1 receptor antagonist Conditions
- Deficiency of interleukin-36 receptor antagonist Conditions
- Deletions and microdeletions Core concepts
- Dent disease Conditions
- Diagnostic odyssey in rare disease Core concepts
- Diamond-Blackfan anaemia syndrome Conditions
- Differences in sex development Conditions
- Different approaches to gene sequencing Technologies
- Dihydropyrimidine dehydrogenase (DPD) deficiency Conditions
- Dilated cardiomyopathy Conditions
- Direct-to-consumer constitutional (germline) genomic testing Technologies
- DNA Core concepts
- Down syndrome (trisomy 21) Conditions
- Dravet syndrome Conditions
- Duchenne muscular dystrophy Conditions
- Duplications and microduplications Core concepts
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E
- Echogenic bowel Conditions
- Ectodermal dysplasias Conditions
- Edwards syndrome (trisomy 18) Conditions
- Endocrine neoplasia Conditions
- Epidermolysis bullosa Conditions
- Epigenetics Core concepts
- Episodic ataxia Conditions
- Exomphalos Conditions
- Expressivity Core concepts
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F
- Familial adenomatous polyposis Conditions
- Familial haemophagocytic lymphohistiocytosis Conditions
- Familial hypercholesterolaemia Conditions
- Familial hyperparathyroidism Conditions
- Familial hypocalciuric hypercalcaemia Conditions
- Familial periodic fever syndromes Conditions
- Familial restrictive cardiomyopathy Conditions
- Fanconi anaemia Conditions
- Fetal megacystis Conditions
- Fetal ovarian cysts Conditions
- Fibrodysplasia ossificans progressiva Conditions
- Fluorescent in situ hybridisation (FISH) Technologies
- Fluoropyrimidine-based chemotherapies Therapies
- Fragile X syndrome Conditions
- Friedreich ataxia Conditions
- Frontotemporal dementia Conditions
- Fumarate hydratase tumour predisposition syndrome (including hereditary leiomyomatosis and renal cell cancer) Conditions
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G
- Gastric cancer Conditions
- Gene Core concepts
- Gene panel sequencing Technologies
- Generalised arterial calcification of infancy Conditions
- Genome Core concepts
- Genomic imprinting Core concepts
- Genomic Laboratory Hubs Genomics in action
- Genomic testing in the devolved nations Genomics in action
- Genomic testing pathway in rare disease Genomics in action
- Genomics multidisciplinary team meeting (MDT) in rare disease Genomics in action
- Glucose transporter type 1 deficiency syndrome Conditions
- Gorlin syndrome Conditions
- The Generation Study Genomics in action
- The Generation Study: Communicating a ‘condition suspected’ result Genomics in action
- The Generation Study: How are samples collected and processed? Genomics in action
- The Generation Study: How can participants withdraw? Genomics in action
- The Generation Study: How do participants provide consent and how is it recorded? Genomics in action
- The Generation Study: How is participant data stored and who can access it? Genomics in action
- The Generation Study: Recruiting participants Genomics in action
- The Generation Study: What are the different types of result and how are they returned? Genomics in action
- The Generation Study: Which conditions are screened for and why? Genomics in action
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H
- Hereditary alpha-tryptasaemia Conditions
- Hereditary angioedema Conditions
- Hereditary diffuse gastric cancer syndrome (CDH1-related) Conditions
- Hereditary haemochromatosis Conditions
- Hereditary hypophosphataemic rickets Conditions
- Hereditary multiple exostoses Conditions
- Hereditary pancreatitis Conditions
- Hereditary spastic paraplegia Conditions
- Hereditary systemic amyloidosis Conditions
- Heritable TP53-related cancer syndromes Conditions
- Hirschsprung disease Conditions
- How to complete a record of discussion form Genomics in action
- How to complete a test order form for whole genome sequencing Genomics in action
- How to request a skeletal survey Genomics in action
- Human Genome Project Genomics in action
- Human Phenotype Ontology (HPO) Core concepts
- Huntington disease Conditions
- Hypertrophic cardiomyopathy Conditions
- Hypochondroplasia Conditions
- Hypoparathyroidism Conditions
- Hypophosphatasia Conditions
- Hypoplastic left heart syndrome Conditions
-
I
- Identity testing Technologies
- IKBKB-associated immunodeficiency Conditions
- IL2RG-associated X-linked severe combined immunodeficiency Conditions
- Incidental findings Genomics in action
- Incontinentia pigmenti Conditions
- Inherited epidermal differentiation disorders Conditions
- Intrahepatic cholestasis Conditions
- Introduction to pharmacogenomics Core concepts
- Introduction to rare disease Core concepts
- IPEX syndrome (FOXP3 deficiency) Conditions
- IRAK4 deficiency Conditions
- IRF8 deficiency Conditions
- ITK deficiency Conditions
- Type 1 interferonopathies Conditions
-
K
- Kabuki syndrome Conditions
- Karyotype Technologies
- Key diagnostic terminology for skeletal dysplasia disorders Core concepts
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L
- Leber hereditary optic neuropathy Conditions
- Legius syndrome Conditions
- Limb girdle muscular dystrophy Conditions
- Long QT syndrome Conditions
- Long-read sequencing Technologies
- Lung cancer Conditions
- Lynch syndrome Conditions
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M
- Mainstreaming cancer susceptibility gene testing Genomics in action
- Majeed syndrome Conditions
- Manchester (Evans) score Technologies
- Marfan syndrome Conditions
- Massively parallel sequencing Technologies
- McCune-Albright syndrome Conditions
- Meiosis Core concepts
- Mental health and rare disease Genomics in action
- Microarray Technologies
- Micrognathia Conditions
- Mismatch repair deficiency and microsatellite instability Core concepts
- Mitochondrial DNA testing Technologies
- Mitochondrial inheritance Core concepts
- Mitosis Core concepts
- Molecular tumour profiles for early breast cancer Technologies
- Monogenic diabetes Conditions
- Monogenic inflammatory bowel disease Conditions
- Monogenic obesity Conditions
- Mosaicism Core concepts
- Multifactorial conditions Core concepts
- Multiple endocrine neoplasia type 1 Conditions
- Multiple endocrine neoplasia type 2 Conditions
- Multiple endocrine neoplasia type 4 Conditions
- Multiple monogenic benign tumours Conditions
- Multiplex ligation-dependent probe amplification (MLPA) Technologies
- Mutational signatures Technologies
- MUTYH-associated polyposis Conditions
- MYD88 deficiency Conditions
- Myotonic dystrophy Conditions
-
N
- National Genomic Test Directory Genomics in action
- Neurofibromatosis type 1 Conditions
- Newborn blood spot screening Technologies
- Next-generation sequencing Technologies
- NHS Genomic Medicine Service Signed Off Panels Resource Genomics in action
- Nijmegen breakage syndrome Conditions
- Non-coding DNA Core concepts
- Non-invasive prenatal diagnosis (NIPD) Technologies
- Non-invasive prenatal testing (NIPT) Technologies
- Non-steroidal anti-inflammatory drugs (NSAIDs) Therapies
- Non-syndromic hearing loss Conditions
- NTRK inhibitors Therapies
- Nuchal translucency Conditions
-
O
- OAS1-associated autoinflammation and immunodeficiency syndrome Conditions
- Ondansetron Therapies
- Osteogenesis imperfecta Conditions
- Ovarian cancer Conditions
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P
- Inherited phaeochromocytoma and paraganglioma Conditions
- PALB2 Genes
- Palmoplantar epidermal differentiation disorders (palmoplantar keratoderma) Conditions
- Pancreatic cancer Conditions
- Parathyroid carcinoma Conditions
- PARP inhibitors Therapies
- Patau syndrome (trisomy 13) Conditions
- Paternal age effect Core concepts
- Penetrance Core concepts
- Peutz-Jeghers syndrome Conditions
- Pituitary adenoma Conditions
- PNP-associated immunodeficiency Conditions
- Point-of-care pharmacogenomic testing Genomics in action
- Polycystic liver disease Conditions
- Prader-Willi syndrome Conditions
- Predictive testing Technologies
- Preimplantation genetic testing Technologies
- Premature ovarian insufficiency Conditions
- Primary lymphoedema Conditions
- Progressive cardiac conduction disease Conditions
- Proteasome-associated autoinflammatory syndromes Conditions
- Proteins Core concepts
- PSTPIP1-associated autoinflammatory syndrome Conditions
- PTEN syndrome Conditions
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R
- R14: Acutely unwell children with a likely monogenic disorder (rapid genome testing) Genomics in action
- R21: Rapid prenatal exome sequencing Technologies
- R22: Fetus with a likely chromosomal abnormality Technologies
- R27 Paediatric disorders Genomics in action
- RAC2-associated combined immunodeficiency Conditions
- Rare disease patient advocacy groups Genomics in action
- RASopathies Conditions
- Renal cancer Conditions
- Renal cysts and diabetes syndrome Conditions
- Repeat expansion disorders Conditions
- Research in rare disease Genomics in action
- Resistance to thyroid hormone Conditions
- RNA Core concepts
- RNA sequencing (RNA-seq) Technologies
- Roles in clinical genetics Genomics in action
-
S
- Samples for genomic testing in rare disease Genomics in action
- Sanger sequencing Technologies
- Schizophrenia Conditions
- Serrated polyposis syndrome Conditions
- Short QT syndrome Conditions
- Short tandem repeat (STR) testing Technologies
- Short-read sequencing Technologies
- SHOX-related haploinsufficiency Conditions
- Sickle cell disease Conditions
- Silver-Russell syndrome Conditions
- Single gene sequencing Technologies
- Single nucleotide variants Core concepts
- Sotos syndrome Conditions
- Southern blotting Technologies
- Spinal and bulbar muscular atrophy (Kennedy disease) Conditions
- Spinal muscular atrophy Conditions
- STAT1 deficiency Conditions
- Statins Therapies
- Subcutaneous panniculitis-like T-cell lymphoma Conditions
- Sudden arrhythmic death syndrome Conditions
- Supporting young people with a rare disease in the transition to adult services Genomics in action
- Syndromes without a name (SWAN) Core concepts
-
T
- Tacrolimus Therapies
- Temple syndrome Conditions
- Tetralogy of Fallot Conditions
- Thalassaemia Conditions
- Thiopurines Therapies
- Thoracic aortic aneurysm and dissection Conditions
- Three M syndrome Conditions
- Transposition of the great arteries Conditions
- Tuberous sclerosis complex Conditions
- Tubulointerstitial kidney disease Conditions
- Turner syndrome Conditions
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V
- Variant Core concepts
- Variant of uncertain significance (VUS) Core concepts
- Ventriculomegaly Conditions
- VEXAS syndrome Conditions
- Visual communication aid: Autosomal dominant inheritance Genomics in action
- Visual communication aid: Autosomal recessive inheritance Genomics in action
- Visual communication aid: De novo variants Genomics in action
- Visual communication aid: Genes, chromosomes and DNA Genomics in action
- Visual communication aid: Invasive prenatal genetic testing Genomics in action
- Visual communication aid: Mitochondrial inheritance Genomics in action
- Visual communication aid: Mosaicism Genomics in action
- Visual communication aid: Penetrance and expressivity Genomics in action
- Visual communication aid: Reciprocal chromosome translocations Genomics in action
- Visual communication aid: Robertsonian chromosome translocations Genomics in action
- Visual communication aid: Variants of uncertain significance (VUS) Genomics in action
- Visual communication aid: X-linked recessive inheritance Genomics in action
- Visual communication aids for genomics conversations Genomics in action
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W
- When to suspect a skeletal dysplasia as a cause of short stature Conditions
- Whole exome sequencing Technologies
- Whole genome sequencing Technologies
- Williams syndrome Conditions
- Wilson disease Conditions
- Wiskott-Aldrich syndrome Conditions
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X
- X-linked agammaglobulinaemia Conditions
- X-linked inheritance Core concepts
- X-linked lymphoproliferative syndrome Conditions
- Xeroderma pigmentosum Conditions
- XMEN syndrome (MAGT1 deficiency) Conditions