Approved conditions

Please click on this link for the Approved List of Cancers: Approved List of Cancers

Ultra-rare disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Undescribed disorders Ultra-rare undescribed monogenic disorders Use actual diagnosis
Multi system groups Neonatal or paediatric intensive care unit admission with a likely monogenic disease Use actual diagnosis
Single autosomal recessive mutation in rare disease Use actual diagnosis
Undiagnosed monogenic disorder seen in a specialist genetics clinic Use actual diagnosis

Cardiovascular disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Arteriopathies Familial hypercholesterolaemia E780 1456959
Familial cerebral small vessel disease I639 1453012
Severe Hypertiglyceridaemia E781 1462034
Connective tissue disorders and aortopathies Familial Thoracic Aortic Aneurysm Disease I712 1292278
Cardiac arrhythmia Brugada syndrome Q248 1326234
Long QT syndrome I458 1332961
Catecholaminergic Polymorphic Ventricular Tachycardia I472 1340687
Unexplained sudden death in the young R98 1276115
Idiopathic ventricular fibrillation I490 1256138
Short QT syndrome
Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy I428 1339131
Left Ventricular non-compaction cardiomyopathy Q248 1371696
Dilated Cardiomyopathy I420 1282438
Dilated Cardiomyopathy and conduction defects I420 1282438
Hypertrophic Cardiomyopathy I422 1256030
Congenital heart disease Familial congenital heart disease Use actual diagnosis
Syndromic congenital heart disease Use actual diagnosis
Lymphatic disorders Meige’s disease I890 1434381
Milroy disease Q820 1285552
Lymphoedema distichiasis Q103 1448099
Lipoedema disease R609 1472750
Primary lymphoedema Q820 1447352
Pulmonary heart disease Pulmonary arterial hypertension I272 1384774


Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Congenital malformations caused by ciliopathies Bardet-Biedl syndrome Q878 1257105
Joubert syndrome Q898 1327103
Rare multisystem ciliopathy disorders Use actual diagnosis
Respiratory ciliopathy phenotypes Primary ciliary dyskinesia Q893 1315873
Non-Cystic Fibrosis Bronchiectasis (NCFB) Q334 1257844

Dermatological disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Atopy Severe multi-system atopic disease with high IgE Z910 1391316
Autoimmune skin disorders Generalised pustular psoriasis L401 1452204
Ectodermal dysplasias Ectodermal dysplasia without a known gene mutation Q824 1283241
Ichthyoses Autosomal recessive congenital ichthyosis Q809 1258140
Keratodermas Palmoplantar keratoderma and erthyrokeratodermas Q828 1284890
Familial disseminated superficial actinic porokeratosis Q828 1257167
Neurocutaneous disorders Undiagnosed neurocutaneous disorders Use actual diagnosis
Hair disorders Familial cicatricial alopecia L669 1253679
Familial hidradenitis suppurativa L322 1253607
Non-syndromic hypotrichosis L65.9 1284712
Skin fragility disorders Epidermolysis bullosa Q819 1283401
Peeling skin syndrome L988 1455688
Sun-exposure related conditions Erythropoietic protoporphyria, mild variant E800 1262308
Hydroa vacciniforme L564 1253233

Dysmorphic and congenital abnormality syndromes

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Kabuki syndrome Kabuki syndrome Q878 1329247
RASopathies Noonan syndrome Q871 1303105
Noonan syndrome plus other features Q871 1303105
Cardio-facio-cutaneous syndrome Q878 1361096
LEOPARD syndrome Q858 1257072
Costello syndrome Q878 1336709
Legius syndrome Q850 1312799
Balanced translocations Balanced translocations with an unusual phenotype Q959 1350738
Limb disorders VACTERL-like phenotype Q872 1336214
DNA repair disorders Cockayne syndrome Q871 1256724
Non-Fanconi anaemia D617 1446817
Xeroderma pigmentosum-like disorders Q821 1287988
Primary microcephaly – Microcephalic Dwarfism Spectrum Q02 1258981
Autophagy disorders Vici Syndrome and other autophagy disorders Q899 1281535
Dysmorphic disorders Coarse facial features including Coffin-Siris-like disorders Q878 1257099
Familial non-syndromic cleft lip and or familial cleft palate Q379 1310431
Syndromic cleft lip and or cleft palate Q379 1310431
PHACE(S) syndrome Q898 1352536
Radial dysplasia Q740 1437255
Fetal disorders Fetal hydrops P832 1298908
Unexplained monogenic fetal disorders Use actual diagnosis

Endocrine disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Adrenal disorders Congenital adrenal hypoplasia Q891 1316083
Disorders of calcium homeostasis Familial or syndromic hypoparathyroidism E209 1284690
Gonadal and sex development disorders Disorders of sex development
46,XX disorder of sex development E560 1369388
46,XY disorder of sex development E560 1369390
Early onset familial premature ovarian insufficiency E283 1437455
Growth hormone disorders IUGR and IGF abnormalities P059 1283695
Hypothalmic and pituitary disorders Idiopathic hypogonadotropic hypogonadism E230 1268562
Obesity Syndromes Significant early-onset obesity with or without other endocrine features and short stature E667 1415378
Rare subtypes of diabetes Familial young-onset non-insulin-dependent diabetes E146 1268672
Hyperinsulinism E162 1297368
Neonatal diabetes diagnosed (diagnosed less than 6 months of age) P702 1265377
Diabetes with additional phenotypes suggestive of a monogenic aetiology E139 1367937
Insulin resistance (including lipodystrophy) R730 1326681
Multi-organ autoimmune diabetes E109 1322687
Thyroid disorders Congenital hypothyroidism E031 1301023
Resistance to thyroid hormone E078 1269097

Gastroenterological disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Gastrointestinal disorders Infantile enterocolitis and monogenic inflammatory bowel disease K528 1260433
Gastrointestinal epithelial barrier disorders Use actual diagnosis
Non-syndromic familial congenital anorectal malformation Q438 1433723
Early onset or familial intestinal pseudo obstruction K599 1325142
Familial Hirschsprung disease Q431 1258609
Liver disease Ductal plate malformation
Multiple biliary hamartomas D134 1353618
Caroli’s disease Q445 1258655
Choledochal cyst Q444 1282576
Polycystic liver disease Q446 1313263
Congenital hepatic fibrosis P788 1370052

Growth disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Classical Beckwith-Wiedemann syndrome Q873 1256731
Atypical Beckwith-Wiedemann syndrome Q873 1256731
Simpson-Golabi-Behmel syndrome Q873 1352661
Sotos syndrome E220 1292288
Weaver syndrome Q873 1256729
Growth restriction Silver-Russell syndrome Q871 1256687

Haematological and Immunological disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No.
Anaemias and red cell disorders Early onset pancytopenia and red cell disorders D610 1430553
Congenital anaemias P614 1453160
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Aplastic anaemia D619 1446614
Paroxysmal nocturnal haemoglobinuria D595 1455177
Hereditary erythrocytosis D750 1303435
Primary immunodeficiency disorders Primary immunodeficiency D898 1340814
Haemostasis disorders Inherited bleeding and or platelet disorders Use actual diagnosis
Monogenic venous thrombosis I829 1303350

Hearing and ear disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Non-syndromic hearing loss Congenital hearing impairment H919 1367119
Auditory Neuropathy Spectrum Disorder H933 1355681
Autosomal dominant deafness Z822 1311251
Deafness and congenital structural abnormalities Bilateral microtia Q172 1259230
Familial hemifacial microsomia Q674 1319440
Ear malformations with hearing impairment Q169 1399351

Infectious diseases

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Bacterial disorders Disseminated non-tuberculous mycobacterium infection A319 1330878
Sepsis GAinS study N/A N/A

Metabolic disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No.
Specific metabolic abnormalities Ketotic hypoglycaemia E162 1268793
Lactic acidosis E872 1261447
Cerebral folate deficiency E728 1263038
Undiagnosed metabolic disorders Use actual diagnosis
Congential disorders of glycosylation E748 1330276
Urea Cycle disorders Hyperammonaemia E722 1292502
Lysosomal storage disorders Mucopolysaccharideosis, Gaucher, Fabry E763 1285639
Mitochondrial disorders All recognised syndromes and those with suggestive features G729 1267052
Peroxisomal disorders Peroxisomal biogenesis disorders E888 1347262
Other peroxisomal disorders E888 1347262
Disorders of severe low weight, severe familial anorexia nervosa Severe familial anorexia Z818 1333863

Neurology and neurodevelopmental disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Motor Disorders of the CNS Cerebellar hypoplasia Q043 1327183
Hereditary ataxia G119 1302884
Early onset dystonia G241 1418385
Hereditary spastic paraplegia G114 1266590
Neurotransmitter disorders R839 1395236
Structural basal ganglia disorders G259 1322588
Inherited Epilepsy Syndromes Genetic Epilepsy with Febrile Seizures plus (GEFS+) G403 1331776
Familial Genetic Generalised Epilepsies G403 1448389
Familial Focal Epilepsies G403 1448389
Early infantile epileptic encephalopathy G403 1343094
Epilepsy plus other features G409
Motor and Sensory Disorders of the PNS Charcot-Marie-Tooth disease G600 1318161
Paediatric motor neuronopathies G122 1277911
Neurodegenerative disorders Early Onset and Familial Parkinson’s disease G20 1353943
Complex Parkinsonism (includes pallido-pyramidal syndromes) G20 1293770
Early onset dementia (encompassing fronto-temporal dementia and prion disease) F03 1277751
Amyotrophic lateral sclerosis or motor neuron disease G122 1266611
Neurodevelopmental disorders Classical tuberous sclerosis Q851 1287708
Intellectual disability F729 1350693
Holoprosencephaly Q042 1257154
Malformations of cortical development Q048 1478169
Fetal structural CNS abnormalities O350 1304750
Pontine tegumental cap dysplasia
Neuromuscular disorders Congenital muscular dystrophy G710 1432318
Congenital myopathy G712 1267028
Congenital myaesthenia G700 1329670
Rhabdomyolysis and metabolic muscle disorders M6289 1467315
Distal myopathies G710 1322939
Limb girdle muscular dystrophy / myopathy G710 1267011
Arthrogryposis Q743 1254478
Channelopathies Skeletal Muscle Channelopathies G711 1285795
Brain channelopathy G114 1339941
Sleep disorders Kleine-Levin syndrome and other inherited sleep disorders Use actual diagnosis
Cerebrovascular disorders Moyamoya disease I675 1256581
Vein of Galen malformation Q283 1352688
Parenchymal brain disorders Intracerebral calcifcation disorders G938 1266438
White matter disorders Inherited white matter disorders G938 1390521

Ophthalmological disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Anterior segment abnormalities Corneal abnormalities Q134 1396019
Glaucoma (developmental) Q150 1259107
Cataracts Q120 1282756
Posterior segment abnormalities Inherited optic neuropathies H46 1323004
Rod-cone dystrophy H355 1286829
Rod Dysfunction Syndrome H536 1312820
Cone Dysfunction Syndrome H355 1393478
Inherited macular dystrophy H355 1352865
Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy H355 1340414
Developmental macular and foveal dystrophy H355 1358858
Familial exudative vitreoretinopathy H439 1383070
Ocular malformations Anophthalmia/Microphthalmia Q111 1259093
Ocular coloboma Q159 1344396
Ocular movement disorders Infantile nystagmus H55 1285967

Renal and urinary tract disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No.
Syndromes with prominent renal abnormalities Proteinuric renal disease F512 1266141
Familial haematuria R80 1263237
Atypical haemolytic uraemic syndrome D593 1460446
Primary membranoproliferative Glomerulonephritis N045 1263308
Structural renal disease Cystic kidney disease Q619 1358680
Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT) Q639 1307103
Disorders of function Renal tubular acidosis and other tubular/electrolyte disorders N258 1281586
Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) N200 1284908
Extreme early-onset hypertension I10 1413647
Unexplained kidney failure in young people N19 1303202

Respiratory disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No.
Interstitial lung disorders Familial pulmonary fibrosis Z836 1411149
Vascular lung disorders Familial and multiple pulmonary arteriovenous malformations I280 1324233
Hereditary haemorrhagic telangiectasia I780 1446513
Structural lung disorders Familial primary spontaneous pneumothorax J931 1415930

Rheumatological disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No.
Multi-system inflammatory/ autoimmune disorders Juvenile dermatomyositis L130 1253257
Periodic fever syndromes and amyloidosis D850 1350505
Connnective tissue disorders Kyphoscoliotic Ehlers-Danlos syndrome Q796 1531406
Classical Ehlers-Danlos Syndrome Q796 1533747

Skeletal disorders

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Skeletal dysplasias Multiple epiphyseal dysplasia Q788 1256918
Chondrodysplasia punctate Q773 1282590
Thoracic dystrophies Q772 1256882
Stickler syndrome Q878 1256830
Osteogenesis imperfecta Q780 1286094
Unexplained skeletal dysplasia Q789 1328318
Amelogenesis imperfecta K005 1258292
Craniosynostosis syndromes Craniosynostosis syndromes Q750 1256972
Choanal anomalies Choanal atresia Q300 1257761

Tumour syndromes

Sub-Category  (Level 3) Disease (Level 4) ICD10 code EPIC No. 
Breast and endocrine Familial breast and or ovarian cancer Z803 1475940
Multiple endocrine tumours E319 118043
Neuro-endocrine Tumours- PCC and PGL D447 118057
Parathyroid cancer C750 1313092
Inherited non-medullary thyroid cancer Use actual diagnosis
GI tract Familial colon cancer Z189 1396272
Multiple bowel polyps K635 1335057
Familial Adenomas D126 1317349
Isolated (presumed recessive) polyposis
Juvenile polyposis D126 118038
Peutz-Jeghers syndrome Q859 1257055
Muscle and nerve Familial rhabdomyosarcoma or sarcoma C499 1281470
Familial tumours syndromes of the central & peripheral nervous system (replaces familial schwannomatosis)
Neurofibromatosis type 2 Q850 1325375
Von Hippel Lindau syndrome Q858 1257037
Neurofibromatosis Type 1 Q850 1312799
Skin Genodermatoses with malignancies Use actual diagnosis
Young onset tumour syndromes Paediatric congenital malformation-dysmorphism-tumour syndromes C809 1448852
Execptionally young adult onset cancer Use actual diagnosis
Multiple primaries Multiple Tumours D489 1457712