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Panel Panel Additional findings health related Additional findings reproductive carrier status Adult onset movement disorder Adult solid tumours cancer susceptibility Adult solid tumours for rare disease Albinism or congenital nystagmus Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis/motor neuron disease Aniridia Anophthalmia or microphthalmia Arrhythmogenic cardiomyopathy Arthrogryposis Ataxia and cerebellar anomalies - narrow panel Atypical haemolytic uraemic syndrome Auditory Neuropathy Spectrum Disorder Autism Autosomal recessive congenital ichthyosis Autosomal recessive primary hypertrophic osteoarthropathy Bardet Biedl syndrome Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Bladder cancer pertinent cancer susceptibility Bleeding and platelet disorders Brain cancer pertinent cancer susceptibility Brain channelopathy Breast cancer pertinent cancer susceptibility Brugada syndrome CAKUT Cardiac arrhythmias Cardiac arrhythmias - additional genes Cardiomyopathies - including childhood onset Cataracts Catecholaminergic polymorphic VT Cerebellar hypoplasia Cerebral folate deficiency Cerebral malformations Cerebral vascular malformations CHARGE syndrome Childhood onset dystonia or chorea or related movement disorder Childhood solid tumours cancer susceptibility Choanal atresia Cholestasis Chondrodysplasia punctata Classical tuberous sclerosis Clefting ClinGen_Familial thoracic aortic aneurysm and aortic dissection ClinGen Gene Validity Curations Colorectal cancer pertinent cancer susceptibility Combined factor V and VIII deficiency Common craniosynostosis syndromes Confirmed Fanconi anaemia or Bloom syndrome 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 dystrophies Craniosynostosis Currarino triad Cutaneous photosensitivity with a likely genetic cause Cystic kidney disease Cystic renal disease Cytopenia - NOT Fanconi anaemia Cytopenias and congenital anaemias DDG2P Deafness and congenital structural abnormalities DEMO Diabetes neonatal onset Diabetes - neonatal onset Diabetes with additional phenotypes suggestive of a monogenic aetiology Dilated cardiomyopathy - adult and teen Dilated Cardiomyopathy and conduction defects Disorders of sex development Distal myopathies Ductal plate malformation Dystonia - childhood onset Early onset dementia (encompassing fronto-temporal dementia and prion disease) Early onset dystonia Ectodermal dysplasia Ectodermal dysplasia without a known gene mutation Ehlers Danlos syndromes Endocrine neoplasms Endometrial cancer pertinent cancer susceptibility Epidermodysplasia verruciformis Epidermolysis bullosa Epidermolysis bullosa and congenital skin fragility Erythropoietic protoporphyria, mild variant Extreme early-onset hypertension Familial breast cancer Familial cerebral small vessel disease Familial cicatricial alopecia Familial diabetes Familial disseminated superficial actinic porokeratosis Familial dysautonomia Familial hidradenitis suppurativa Familial Hirschsprung Disease Familial hypercholesterolaemia Familial hypercholesterolaemia - targeted panel Familial hyperparathyroidism 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 Syndromes of the central & peripheral Nervous system Fetal anomalies Fetal hydrops Gastrointestinal epithelial barrier disorders Gastrointestinal neuromuscular disorders Generalised pustular psoriasis Gene therapy clinical trials Genetic epilepsy syndromes Genodermatoses with malignancies GI tract tumours Glaucoma (developmental) Glycogen storage disease Groopman et al 2019 - Genes with diagnostic variants Growth failure in early childhood Haematological malignancies cancer susceptibility Haematological malignancies for rare disease Haematuria Head and neck cancer pertinent cancer susceptibility Hearing loss Hereditary ataxia Hereditary ataxia - adult onset Hereditary ataxia and cerebellar anomalies - childhood onset Hereditary Erythrocytosis Hereditary haemorrhagic telangiectasia Hereditary neuropathy Hereditary neuropathy NOT PMP22 copy number Hereditary spastic paraplegia Hereditary spastic paraplegia - adult onset Hereditary spastic paraplegia - childhood onset Holoprosencephaly Hydroa vacciniforme Hydrocephalus Hyperammonaemia Hyperthyroidism Hypertrophic cardiomyopathy - teen and adult Hypocalciuric hypercalcaemia Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism idiopathic Hypophosphataemia or rickets Hypotonic infant Ichthyosis and erythrokeratoderma Idiopathic ventricular fibrillation Inborn errors of metabolism Infantile enterocolitis & monogenic inflammatory bowel disease Infantile nystagmus Inherited bleeding disorders Inherited MMR deficiency (Lynch syndrome) Inherited non-medullary thyroid cancer Inherited ovarian cancer (without breast cancer) Inherited pancreatic cancer Inherited phaeochromocytoma and paraganglioma Inherited phaeochromocytoma and paraganglioma excluding NF1 Inherited polyposis Inherited predisposition to acute myeloid leukaemia (AML) Inherited predisposition to GIST Inherited renal cancer Inherited white matter disorders Insulin resistance (including lipodystrophy) Intellectual disability Intestinal failure Intracerebral calcification disorders Iron metabolism disorders IUGR and IGF abnormalities Juvenile dermatomyositis Kabuki syndrome Ketotic hypoglycaemia Kleine-Levin syndrome Laterality disorders and isomerism Leber hereditary optic neuropathy Left Ventricular Noncompaction Cardiomyopathy Limb disorders Limb girdle muscular dystrophy Lipodystrophy - childhood onset Lipoprotein lipase deficiency Long QT syndrome Lung cancer pertinent cancer susceptibility Lysosomal storage disorder Malformations of cortical development Melanoma pertinent cancer susceptibility Membranoproliferative glomerulonephritis 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 Monogenic diabetes Monogenic nephrogenic diabetes insipidus Mosaic skin disorders - deep sequencing Mucopolysaccharideosis, Gaucher, Fabry Multi-organ autoimmune diabetes Multiple endocrine tumours Multiple Epiphyseal Dysplasia Multiple lipomas Multiple monogenic benign skin tumours Neonatal cholestasis Neonatal erythroderma Nephrocalcinosis or nephrolithiasis Neurodegenerative disorders - adult onset Neuroendocrine cancer pertinent cancer susceptibility Neurofibromatosis Type 1 Neurological ciliopathies Neurological segmental overgrowth Neuromuscular arthrogryposis Neuromuscular disorders Neuronal ceroid lipofuscinosis Neurotransmitter disorders 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 Ovarian cancer pertinent cancer susceptibility Paediatric disorders Paediatric disorders - additional genes Paediatric motor neuronopathies 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 PHACE(S) syndrome Pigmentary skin disorders Pituitary hormone deficiency Pityriasis rubra pilaris Pneumothorax - familial Polycystic liver disease interim Possible mitochondrial disorder - nuclear genes Primary ciliary disorders Primary immunodeficiency Primary lymphoedema Primary ovarian insufficiency Primary pigmented nodular adrenocortical disease Progressive cardiac conduction disease Prostate cancer pertinent cancer susceptibility Proteinuric renal disease Pulmonary arterial hypertension Pyruvate dehydrogenase (PDH) deficiency Radial dysplasia Rare anaemia Rare genetic inflammatory skin disorders Rare multisystem ciliopathy disorders RASopathies Refuted genes Renal and urinary tract disorders Renal cancer pertinent cancer susceptibility Renal ciliopathies Renal tubulopathies Respiratory ciliopathies including non-CF bronchiectasis Retinal disorders Rhabdoid tumour predisposition Rhabdomyolysis and metabolic muscle disorders Sarcoma cancer susceptibility Sarcoma susceptibility Segmental overgrowth disorders Severe early-onset obesity Severe familial anorexia Severe hypertriglyceridaemia Severe microcephaly Severe multi-system atopic disease with high IgE Short QT syndrome Silver Russell syndrome Skeletal ciliopathies Skeletal dysplasia Skeletal Muscle Channelopathies Skeletal muscle channelopathy Skin disorders Stickler syndrome Structural basal ganglia disorders Structural eye disease Sudden cardiac death Sudden death in young people Surfactant deficiency Testicular cancer pertinent cancer susceptibility Test panel name Thoracic aortic aneurysm and dissection Thoracic aortic aneurysm or dissection Thoracic dystrophies Thrombophilia Thyroid cancer pertinent cancer susceptibility Tubulointerstitial kidney disease Tumour predisposition - adult onset Tumour predisposition - childhood onset Ultra-rare undescribed monogenic disorders Undiagnosed metabolic disorders Undiagnosed monogenic disorder seen in a specialist genetics clinic Unexplained kidney failure in young people Unexplained paediatric onset end-stage renal disease Upper gastrointestinal cancer pertinent cancer susceptibility VACTERL-like phenotypes Vascular skin disorders Vici Syndrome and other autophagy disorders White matter disorders - adult onset White matter disorders and cerebral calcification - narrow panel White matter disorders - childhood onset Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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31 Jul 2019	Pyruvate dehydrogenase (PDH) deficiency v1.0		Ellen McDonagh promoted panel to version 1.0
31 Jul 2019	Pyruvate dehydrogenase (PDH) deficiency v0.8		Ellen McDonagh List of related panels changed from to R316
31 Jul 2019	Pyruvate dehydrogenase (PDH) deficiency v0.7		Ellen McDonagh Panel types changed to GMS Rare Disease; GMS signed-off
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	ISCA1	Ellen McDonagh Marked gene: ISCA1 as ready
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	ISCA1	Ellen McDonagh Gene: isca1 has been classified as Green List (High Evidence).
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	PDPR	Ellen McDonagh Marked gene: PDPR as ready
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	PDPR	Ellen McDonagh Gene: pdpr has been classified as Red List (Low Evidence).
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	LIPT2	Ellen McDonagh Marked gene: LIPT2 as ready
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	LIPT2	Ellen McDonagh Gene: lipt2 has been classified as Green List (High Evidence).
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	LIPT2	Ellen McDonagh Classified gene: LIPT2 as Green List (high evidence)
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	LIPT2	Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green. 3 patients (2 siblings) reported with biallelic variants in this gene and severe neonatal encephalopathy, with functional evidence supporting a mitochondrial lipoylation defect as well as this protein being in the same pathway as LIPT1.
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.5	LIPT2	Ellen McDonagh Gene: lipt2 has been classified as Green List (High Evidence).
25 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.4	PDPR	Ellen McDonagh commented on gene: PDPR: Confirmed in the NHSE GMS Mitochondrial Specialist Group Meeting on 25th February 2019 that this should be Red, as no further published evidence has come out.
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	PDPR	Ivone Leong reviewed gene: PDPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	PDP2	Ivone Leong reviewed gene: PDP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	TPK1	Ivone Leong reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	SLC25A26	Ivone Leong reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	SLC25A19	Ivone Leong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710, MICROCEPHALY, AMISH TYPE, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	SLC19A3	Ivone Leong reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	SLC19A2	Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	PDP1	Ivone Leong reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	PDHX	Ivone Leong reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	PDHB	Ivone Leong reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15138885, 18164639, 19924563; Phenotypes: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	PDHA1	Ivone Leong reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	NFU1	Ivone Leong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	LONP1	Ivone Leong reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30304514; Phenotypes: CODAS syndrome, 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	LIPT2	Ivone Leong reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 28803783; Phenotypes: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	LIPT1	Ivone Leong reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIPOYLTRANSFERASE 1 DEFICIENCY, 616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	LIAS	Ivone Leong reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	ISCA2	Ivone Leong reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	ISCA1	Ivone Leong reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28356563, 29767723; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	IBA57	Ivone Leong reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	HIBCH	Ivone Leong reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	GLRX5	Ivone Leong reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	FBXL4	Ivone Leong reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	ECHS1	Ivone Leong reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	DLD	Ivone Leong reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	DLAT	Ivone Leong reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.3	BOLA3	Ivone Leong reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	PDPR	Ivone Leong gene: PDPR was added gene: PDPR was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS Mode of inheritance for gene: PDPR was set to Unknown
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	PDP2	Ivone Leong gene: PDP2 was added gene: PDP2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS Mode of inheritance for gene: PDP2 was set to Unknown
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	TPK1	Ivone Leong gene: TPK1 was added gene: TPK1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPK1 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	SLC25A26	Ivone Leong gene: SLC25A26 was added gene: SLC25A26 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	SLC25A19	Ivone Leong gene: SLC25A19 was added gene: SLC25A19 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	SLC19A3	Ivone Leong gene: SLC19A3 was added gene: SLC19A3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	SLC19A2	Ivone Leong gene: SLC19A2 was added gene: SLC19A2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	PDP1	Ivone Leong gene: PDP1 was added gene: PDP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	PDHX	Ivone Leong gene: PDHX was added gene: PDHX was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	PDHB	Ivone Leong gene: PDHB was added gene: PDHB was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 18164639; 15138885; 19924563 Phenotypes for gene: PDHB were set to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	PDHA1	Ivone Leong gene: PDHA1 was added gene: PDHA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	NFU1	Ivone Leong gene: NFU1 was added gene: NFU1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	LONP1	Ivone Leong gene: LONP1 was added gene: LONP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to 30304514 Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	LIPT2	Ivone Leong gene: LIPT2 was added gene: LIPT2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT2 were set to 28757203; 28803783 Phenotypes for gene: LIPT2 were set to ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	LIPT1	Ivone Leong gene: LIPT1 was added gene: LIPT1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	LIAS	Ivone Leong gene: LIAS was added gene: LIAS was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIAS were set to HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	ISCA2	Ivone Leong gene: ISCA2 was added gene: ISCA2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	ISCA1	Ivone Leong gene: ISCA1 was added gene: ISCA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 29767723; PMID: 28356563 Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	IBA57	Ivone Leong gene: IBA57 was added gene: IBA57 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IBA57 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	HIBCH	Ivone Leong gene: HIBCH was added gene: HIBCH was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	GLRX5	Ivone Leong gene: GLRX5 was added gene: GLRX5 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLRX5 were set to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	FBXL4	Ivone Leong gene: FBXL4 was added gene: FBXL4 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL4 were set to 25868664 Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	ECHS1	Ivone Leong gene: ECHS1 was added gene: ECHS1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	DLD	Ivone Leong gene: DLD was added gene: DLD was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	DLAT	Ivone Leong gene: DLAT was added gene: DLAT was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
01 Feb 2019	Pyruvate dehydrogenase (PDH) deficiency v0.2	BOLA3	Ivone Leong gene: BOLA3 was added gene: BOLA3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299
16 Nov 2018	Pyruvate dehydrogenase (PDH) deficiency v0.0		Ellen McDonagh Added Panel Pyruvate dehydrogenase (PDH) deficiency Set panel types to: GMS Rare Disease