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Acute intermittent porphyria
Acute rhabdomyolysis
Additional findings health related
Additional findings health related - adults
Additional findings health related - adult specific
Additional findings health related - children
Additional findings health related - CNV analysis adults
Additional findings health related - CNV analysis adult specific
Additional findings health related - CNV analysis children
Additional findings reproductive carrier status
Adult onset dystonia, chorea or related movement disorder
Adult onset hereditary spastic paraplegia
Adult onset leukodystrophy
Adult onset neurodegenerative disorder
Adult solid tumours cancer susceptibility
Adult solid tumours for rare disease
Agammaglobulinaemia with absent BTK expression
Albinism or congenital nystagmus
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
Alstrom syndrome
Alveolar capillary dysplasia with misalignment of pulmonary veins
Amelogenesis imperfecta
Amyotrophic lateral sclerosis/motor neuron disease
Anophthalmia or microphthalmia
APC associated Polyposis
Arrhythmogenic right ventricular cardiomyopathy
Arthrogryposis
Ataxia and cerebellar anomalies - narrow panel
Ataxia telangiectasia - mutation testing
Atypical haemolytic uraemic syndrome
Auditory Neuropathy Spectrum Disorder
Autism
Autoimmune lymphoproliferative syndrome with defective apoptosis
Autoimmune Polyendocrine Syndrome
Autoinflammatory disorders
Autosomal recessive congenital ichthyosis
Autosomal recessive primary hypertrophic osteoarthropathy
BAP1 associated tumour predisposition syndrome
Bardet Biedl syndrome
Barth syndrome
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Bilateral congenital or childhood onset cataracts
Bladder cancer pertinent cancer susceptibility
Bleeding and platelet disorders
Blepharophimosis ptosis and epicanthus inversus
Brain cancer pertinent cancer susceptibility
Brain channelopathy
Breast cancer pertinent cancer susceptibility
Brugada syndrome and cardiac sodium channel disease
CADASIL
CAKUT
Calcium-sensing receptor phenotypes
Cardiac arrhythmias
Cardiac arrhythmias - additional genes
Carney complex
Catecholaminergic polymorphic VT
Central congenital hypoventilation
Cerebellar hypoplasia
Cerebral folate deficiency
Cerebral malformation
Cerebral vascular malformations
CHARGE syndrome
Childhood onset dystonia, chorea or related movement disorder
Childhood onset hereditary spastic paraplegia
Childhood onset leukodystrophy
Childhood solid tumours
Childhood solid tumours cancer susceptibility
Choanal atresia
Cholestasis
Chondrodysplasia punctata
Classical tuberous sclerosis
Clefting
Cleidocranial Dysplasia
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
ClinGen Gene Validity Curations
Colorectal cancer pertinent cancer susceptibility
Combined factor V and VIII deficiency
Combined vitamin K-dependent clotting factor deficiency
Common craniosynostosis syndromes
Confirmed Fanconi anaemia or Bloom syndrome
Congenital adrenal hyperplasia diagnostic test
Congenital adrenal hypoplasia
Congenital disorders of glycosylation
Congenital fibrosis of the extraocular muscles
Congenital hyperinsulinism
Congenital hypothyroidism
Congenital muscular dystrophy
Congenital myaesthenic syndrome
Congenital myopathy
Corneal abnormalities
Corneal dystrophy
COVID-19 research
Currarino triad
Cutaneous photosensitivity with a likely genetic cause
Cystic fibrosis diagnostic test
Cystic kidney disease
Cystic renal disease
Cystinosis
Cytopenia - NOT Fanconi anaemia
Cytopenias and congenital anaemias
DDG2P
Deafness and congenital structural abnormalities
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DICER1-related cancer predisposition
Dilated and arrhythmogenic cardiomyopathy
Dilated Cardiomyopathy and conduction defects
Disorders of sex development
Distal myopathies
Duchenne or Becker muscular dystrophy
Ductal plate malformation
Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Early onset dystonia
Early onset or syndromic epilepsy
Ectodermal dysplasia
Ectodermal dysplasia without a known gene mutation
Ehlers Danlos syndrome with a likely monogenic cause
Elastin-related phenotypes
Endocrine neoplasia
Endometrial cancer pertinent cancer susceptibility
Epidermodysplasia verruciformis
Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility
Erythropoietic protoporphyria, mild variant
Extreme early-onset hypertension
Fabry disease
Facioscapulohumeral muscular dystrophy - extended testing
Factor II deficiency
Factor IX deficiency
Factor V deficiency
Factor VII deficiency
Factor VIII deficiency
Factor X deficiency
Factor XI deficiency
Factor XIII deficiency
Familial breast cancer
Familial cerebral small vessel disease
Familial chylomicronaemia syndrome (FCS)
Familial cicatricial alopecia
Familial diabetes
Familial disseminated superficial actinic porokeratosis
Familial dysalbuminaemic hyperthyroxinaemia
Familial dysautonomia
Familial hidradenitis suppurativa
Familial Hirschsprung Disease
Familial hypercholesterolaemia
Familial hypercholesterolaemia (GMS)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia
Familial hypoparathyroidism
Familial melanoma
Familial Meniere Disease
Familial Neural Tube Defects
Familial non syndromic congenital heart disease
Familial prostate cancer
Familial pulmonary fibrosis
Familial rhabdomyosarcoma
Familial tumoral calcinosis
Familial tumours of the nervous system
Familial Tumours Syndromes of the central & peripheral Nervous system
Fetal anomalies
Fetal hydrops
Fumarate hydratase-related tumour syndromes
Gastrointestinal epithelial barrier disorders
Gastrointestinal neuromuscular disorders
Gaucher disease
Generalised arterial calcification in infancy
Generalised pustular psoriasis
Gene therapy clinical trials
Genodermatoses with malignancies
Genomic imprinting
GI tract tumours
Glaucoma (developmental)
Glucokinase-related fasting hyperglycaemia
Glutaric acidaemia I
Glycogen storage disease
Glycogen storage disease V
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
Groopman et al 2019 - Genes with diagnostic variants
Growth failure in early childhood
Haematological malignancies cancer susceptibility
Haematological malignancies for rare disease
Haematuria
Haemoglobinopathy trait or carrier testing
Haemophagocytic syndrome with absent perforin expression
Haemophagocytic syndrome with absent XIAP expression
Head and neck cancer pertinent cancer susceptibility
Hereditary alpha tryptasaemia
Hereditary angioedema types I and II
Hereditary ataxia
Hereditary ataxia and cerebellar anomalies - childhood onset
Hereditary ataxia with onset in adulthood
Hereditary diffuse gastric cancer
Hereditary Erythrocytosis
Hereditary haemorrhagic telangiectasia
Hereditary isolated diabetes insipidus
Hereditary neuropathy
Hereditary neuropathy or pain disorder
Hereditary spastic paraplegia
Hereditary systemic amyloidosis
Hirschsprung disease
Holoprosencephaly - NOT chromosomal
Hydroa vacciniforme
Hydrocephalus
Hyperammonaemia
Hyperthyroidism
Hypertrophic cardiomyopathy
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism (GMS)
Hypophosphataemia or rickets
Hypotonic infant
Ichthyosis and erythrokeratoderma
Idiopathic ventricular fibrillation
Incontinentia pigmenti
Infantile enterocolitis & monogenic inflammatory bowel disease
Infantile nystagmus
Inherited bleeding disorders
Inherited breast cancer and ovarian cancer
Inherited MMR deficiency (Lynch syndrome)
Inherited non-medullary thyroid cancer
Inherited ovarian cancer (without breast cancer)
Inherited pancreatic cancer
Inherited parathyroid cancer
Inherited phaeochromocytoma and paraganglioma
Inherited phaeochromocytoma and paraganglioma excluding NF1
Inherited polyposis and early onset colorectal cancer - germline testing
Inherited predisposition to acute myeloid leukaemia (AML)
Inherited predisposition to GIST
Inherited prostate cancer
Inherited renal cancer
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)
Inherited white matter disorders
Insulin resistance (including lipodystrophy)
Intellectual disability - microarray and sequencing
Intestinal failure or congenital diarrhoea
Intracerebral calcification disorders
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked
Iron metabolism disorders - NOT common HFE mutations
IUGR and IGF abnormalities
Juvenile dermatomyositis
Kabuki syndrome
Ketotic hypoglycaemia
Kleine-Levin syndrome
Krabbe disease - GALC deficiency
Krabbe disease - Saposin A deficiency
Laterality disorders and isomerism
Leber hereditary optic neuropathy
Left Ventricular Noncompaction Cardiomyopathy
Li Fraumeni Syndrome
Likely inborn error of metabolism - targeted testing not possible
Limb disorders
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Lipodystrophy - childhood onset
Long QT syndrome
Lung cancer pertinent cancer susceptibility
Lymphoproliferative syndrome with absent SAP expression
Lysosomal acid lipase deficiency
Lysosomal storage disorder
Malformations of cortical development
Malignant hyperthermia
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
Melanoma pertinent cancer susceptibility
Membranoproliferative glomerulonephritis including C3 glomerulopathy
Mitochondrial Complex V deficiency, TMEM70 type
Mitochondrial disorders
Mitochondrial disorder with complex I deficiency
Mitochondrial disorder with complex II deficiency
Mitochondrial disorder with complex III deficiency
Mitochondrial disorder with complex IV deficiency
Mitochondrial disorder with complex V deficiency
Mitochondrial DNA maintenance disorder
Mitochondrial liver disease, including transient infantile liver failure
Mitochondrial neurogastrointestinal encephalopathy
Monitoring for G(M)CSF escape mutations
Monogenic diabetes
Monogenic hearing loss
Monogenic nephrogenic diabetes insipidus
Mosaic skin disorders - deep sequencing
Mucolipidosis II and III Alpha or Beta
Mucopolysaccharideosis, Gaucher, Fabry
Mucopolysaccharidosis type IH or S
Mucopolysaccharidosis type II
Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IVA
Mucopolysaccharidosis type VI
Multi locus imprinting disorders
Multi-organ autoimmune diabetes
Multiple endocrine neoplasia type 2
Multiple endocrine tumours
Multiple Epiphyseal Dysplasia
Multiple exostoses
Multiple lipomas
Multiple monogenic benign skin tumours
NARP syndrome or maternally inherited Leigh syndrome
Neonatal cholestasis
Neonatal diabetes
Neonatal diabetes - small panel
Nephrocalcinosis or nephrolithiasis
Neuroendocrine cancer pertinent cancer susceptibility
Neurofibromatosis Type 1
Neurofibromatosis type 1 (GMS)
Neurological ciliopathies
Neurological segmental overgrowth
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis type 2
Neurotransmitter disorders
Neutropaenia consistent with ELANE mutations
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
Niemann-Pick disease type A or B
Niemann Pick disease type C
Nijmegen breakage syndrome
Non-acute porphyrias
Non-CF bronchiectasis
Non-syndromic familial congenital anorectal malformations
Non-syndromic hypotrichosis
Ocular and oculo-cutaneous albinism
Ocular coloboma
Ophthalmological ciliopathies
Optic neuropathy
Osteogenesis imperfecta
Osteopetrosis
Other rare neuromuscular disorders
Ovarian cancer pertinent cancer susceptibility
Paediatric disorders
Paediatric disorders - additional genes
Paediatric motor neuronopathies
Paediatric or syndromic cardiomyopathy
Paediatric pseudo-obstruction syndrome
Pain syndromes
Palmoplantar keratoderma and erythrokeratodermas
Palmoplantar keratodermas
Pancreatitis
Parathyroid Cancer
Parkinson Disease and Complex Parkinsonism
Paroxysmal central nervous system disorders
Peeling skin syndrome
Periodic fever syndromes
Peroxisomal disorders
Peutz Jeghers Syndrome
PHACE(S) syndrome
Phenylketonuria
Pigmentary skin disorders
Pituitary hormone deficiency
Pityriasis rubra pilaris
Pneumothorax - familial
POLG-related disorder
Polycystic liver disease
Possible mitochondrial disorder - nuclear genes
Primary ciliary disorders
Primary hyperaldosteronism - KCNJ5
Primary immunodeficiency or monogenic inflammatory bowel disease
Primary lymphoedema
Primary ovarian insufficiency
Primary pigmented nodular adrenocortical disease
Progressive cardiac conduction disease
Prostate cancer pertinent cancer susceptibility
Proteinuric renal disease
Pseudoxanthoma elasticum
PTEN Hamartoma Tumor Syndrome
Pulmonary alveolar microlithiasis
Pulmonary arterial hypertension
Pulmonary fibrosis familial
Pyruvate dehydrogenase (PDH) deficiency
Radial dysplasia
Rare anaemia
Rare genetic inflammatory skin disorders
Rare multisystem ciliopathy disorders
Rare multisystem ciliopathy Super panel
Rare syndromic craniosynostosis or isolated multisuture synostosis
RASopathies
Refuted genes
Renal cancer pertinent cancer susceptibility
Renal ciliopathies
Renal superpanel - broad
Renal superpanel - narrow
Renal tubulopathies
Respiratory ciliopathies including non-CF bronchiectasis
Retinal disorders
Retinoblastoma
Rhabdoid tumour predisposition
Rhabdomyolysis and metabolic muscle disorders
Sandhoff disease
Sarcoma cancer susceptibility
Sarcoma susceptibility
SCID with features of gamma chain deficiency
Segmental or atypical neurofibromatosis type 1 testing
Segmental overgrowth disorders - Deep sequencing
Severe combined immunodeficiency with adenosine deaminase deficiency
Severe combined immunodeficiency with PNP deficiency
Severe early-onset obesity
Severe familial anorexia
Severe hypertriglyceridaemia
Severe microcephaly
Severe multi-system atopic disease with high IgE
Severe Paediatric Disorders
Short QT syndrome
Short stature - SHOX deficiency
Silver Russell syndrome
Sitosterolaemia
Skeletal ciliopathies
Skeletal dysplasia
Skeletal Muscle Channelopathies
Skeletal muscle channelopathy
Smith-Lemli-Opitz syndrome
Spinal muscular atrophy type 1 rare mutation testing
Sporadic aniridia
Stickler syndrome
Structural basal ganglia disorders
Structural eye disease
Subcutaneous panniculitis T-cell lymphoma (SPTCL)
Sudden death in young people
Sudden unexplained death or survivors of a cardiac event
Surfactant deficiency
Syndromic and non syndromic craniosynostosis involving midline sutures
Tay-Sachs disease
Testicular cancer pertinent cancer susceptibility
Thalassaemia and other haemoglobinopathies
Thanatophoric dysplasia
Thiamine metabolism dysfunction syndrome 2
Thoracic aortic aneurysm or dissection
Thoracic aortic aneurysm or dissection (GMS)
Thoracic dystrophies
Thrombocythaemia
Thrombophilia with a likely monogenic cause
Thyroid cancer pertinent cancer susceptibility
Tuberous sclerosis
Tubulointerstitial kidney disease
Ultra-rare undescribed monogenic disorders
Undiagnosed metabolic disorders
Undiagnosed monogenic disorder seen in a specialist genetics clinic
Unexplained death in infancy and sudden unexplained death in childhood
Unexplained kidney failure in young people
Unexplained young onset end-stage renal disease
Upper gastrointestinal cancer pertinent cancer susceptibility
VACTERL-like phenotypes
Van der Woude syndrome
Variegate porphyria
Vascular skin disorders
Vici Syndrome and other autophagy disorders
Viral resistance
Von Hippel Lindau syndrome
von Willebrand disease
White matter disorders and cerebral calcification - narrow panel
Wilms tumour with features suggestive of predisposition
Wilson disease
Wiskott-Aldrich syndrome
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
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1.172
Gene or Genomic Entity Name
PKHD1
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23 Jan 2017
Rare multisystem ciliopathy disorders
PKHD1
Alice Gardham marked PKHD1 as ready