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Achromatopsia
Additional findings_Adult
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Adrenal insufficiency
Adult Cardiac SuperPanel
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
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Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
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Bardet Biedl syndrome
Basal Cell Cancer
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Brugada syndrome
Callosome
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Cardiomyopathy_Adult_SuperPanel
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Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
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Cerebellar and Pontocerebellar Hypoplasia
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Choanal atresia
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Chromosome Breakage Disorders
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Cobblestone Malformations
Colorectal Cancer and Polyposis
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Cone-rod Dystrophy
Congenital adrenal hyperplasia
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Congenital diaphragmatic hernia
Congenital Diarrhoea
Congenital Disorders of Glycosylation
Congenital Heart Defect
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Congenital Stationary Night Blindness
Corneal Dystrophy
Craniosynostosis
Cutis Laxa
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
Desmosomal disorders
Diabetes Insipidus
Diamond Blackfan anaemia
Differences of Sex Development
Diffuse Gastric Cancer
Dilated Cardiomyopathy
Disorders of immune dysregulation
Dyslipidaemia
Dystonia and Chorea
Early-onset Dementia
Early-onset Parkinson disease
Ectodermal Dysplasia
Endometrial Cancer
Epidermolysis bullosa
Eye Anterior Segment Abnormalities
Facial papules
Familial hypercholesterolaemia
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Foveal Hypoplasia
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Genomic newborn screening: BabyScreen+
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Glaucoma congenital
Glycogen Storage Diseases
Growth failure
Haematuria_Alport
Haem degradation and bilirubin metabolism defects
Hair disorders
Hand and foot malformations
Hereditary angioedema
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Hereditary Neuropathy
Hereditary Pigmentary Disorders
Hereditary Spastic Paraplegia
Heterotaxy
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
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Hypertrichosis syndromes
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Hypogonadotropic hypogonadism
Hypophosphataemia or rickets
IBMDx study
Ichthyosis and Porokeratosis
Immune_markers_WTS_UMCCR
Immunological disorders_SuperPanel
Imprinting disorders
Incidentalome
Incidentalome_PREGEN_DRAFT
Infertility and Recurrent Pregnancy Loss
Inflammatory bowel disease
Intellectual disability syndromic and non-syndromic
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kidney Cancer
Kidneyome_SuperPanel
Leukodystrophy
Limb and Digital Malformations SuperPanel
Limb-Girdle Muscular Dystrophy and Distal Myopathy
Lipodystrophy_Lipoatrophy
Lissencephaly and Band Heterotopia
Liver Failure_Paediatric
Liverome Superpanel
Long QT Syndrome
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Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
Macrocephaly_Megalencephaly
Macular Dystrophy/Stargardt Disease
Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
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Medulloblastoma
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Movement Disorders Superpanel
Multiple pterygium syndrome_Fetal akinesia sequence
Muscular dystrophy and myopathy_Paediatric
Myopathy Superpanel
Neuroblastoma
Neurodegeneration with brain iron accumulation
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Neuromuscular Superpanel
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Ocular and Oculocutaneous Albinism
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Osteogenesis Imperfecta and Osteoporosis
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Ovarian Cancer
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Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatic Cancer
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Paraganglioma_phaeochromocytoma
Parathyroid Tumour
Paroxysmal Dyskinesia
Periventricular Grey Matter Heterotopia
Peroxisomal Disorders
Phagocyte Defects
Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Pierre Robin Sequence
Pituitary hormone deficiency
Pituitary Tumour
Pneumothorax
Polycystic liver disease
Polydactyly
Polymicrogyria and Schizencephaly
Predominantly Antibody Deficiency
Prepair 1000+
Prepair 500+
Primary nodular adrenocortical disease
Primary Ovarian Insufficiency_Premature Ovarian Failure
Progressive Myoclonic Epilepsy
Progressive Neurological Conditions
Prostate Cancer
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Rasopathy
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Regression
Renal Ciliopathies and Nephronophthisis
Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
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Renal Tubulopathies and related disorders
Repeat Disorders
Retinal Disorders Superpanel
Retinitis pigmentosa
Rhabdomyolysis and Metabolic Myopathy
Sarcoma non-soft tissue
Sarcoma soft tissue
Schwannoma
Severe Combined Immunodeficiency
Severe early-onset obesity
Short QT syndrome
Skeletal Ciliopathies
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spontaneous coronary artery dissection
Stickler Syndrome
Stroke
Susceptibility to Viral Infections
Syndromic Retinopathy
Thyroid Cancer
Transplant Co-Morbidity
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour
Version
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2.0
1.25
Gene or Genomic Entity Name
MTNAP1
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07 Jun 2026
Mitochondrial disease v2.0
MTNAP1
Gene symbol changed from C17orf80 to MTNAP1 during gene set migration (ENSG00000141219 -> ENSG00000141219)