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| Pain syndromes v0.3 | GLA | Zornitza Stark Added phenotypes Fabry disease, 301500 for gene: GLA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.0 | NMNAT2 |
Zornitza Stark gene: NMNAT2 was added gene: NMNAT2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to 31132363 Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia |
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| Pain syndromes v0.0 | FAAHP1 |
Zornitza Stark gene: FAAHP1 was added gene: FAAHP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAHP1 were set to 30929760 Phenotypes for gene: FAAHP1 were set to Pain insensitivity |
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| Pain syndromes v0.0 | CLTCL1 |
Zornitza Stark gene: CLTCL1 was added gene: CLTCL1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CLTCL1 was set to Unknown Publications for gene: CLTCL1 were set to 26068709 Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain |
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| Pain syndromes v0.0 | CCT5 |
Zornitza Stark gene: CCT5 was added gene: CCT5 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT5 were set to 12874111; 16399879; 25124038; 28623285 Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia |
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| Pain syndromes v0.0 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 25818867; 12202988 Phenotypes for gene: NAGLU were set to Late-onset painful sensory neuropathy, AD; Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920 |
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| Pain syndromes v0.0 | MPV17 |
Zornitza Stark gene: MPV17 was added gene: MPV17 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 16582910; 16909392; 23714749; 22508010; 185990; 11431741 Phenotypes for gene: MPV17 were set to Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity |
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| Pain syndromes v0.0 | WNK1 |
Zornitza Stark gene: WNK1 was added gene: WNK1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNK1 were set to 15911806; 16636245; 16946995; 21625937; 15455397; 18521183; 15060842 Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; HSAN 2; Hereditary sensory and autonomic neuropathy type IIA |
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| Pain syndromes v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to 14640030; 26800456; 12771253; 30120737; 16433699; 25069833; 30878017; 31111153; 31118583; 28678039; 19365058; 31131842; 8309582; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001; 3011930 Phenotypes for gene: TTR were set to Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430 |
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| Pain syndromes v0.0 | TRPA1 |
Zornitza Stark gene: TRPA1 was added gene: TRPA1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPA1 were set to 28314413; 21468319; 24778270; 20718100; 16564016; 28436534; 24564660; 20547126 Phenotypes for gene: TRPA1 were set to Familial episodic pain syndrome type I; Episodic pain syndrome, familial, 615040 |
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| Pain syndromes v0.0 | SPTLC2 |
Zornitza Stark gene: SPTLC2 was added gene: SPTLC2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC2 were set to 26681808; 23658386; 12207934; 27025386; 20920666 Phenotypes for gene: SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640 |
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| Pain syndromes v0.0 | SPTLC1 |
Zornitza Stark gene: SPTLC1 was added gene: SPTLC1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712 Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA |
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| Pain syndromes v0.0 | SEPT9 |
Zornitza Stark gene: SEPT9 was added gene: SEPT9 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEPT9 were set to 21556032; 16186812; 19451530 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy |
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| Pain syndromes v0.0 | SCN9A |
Zornitza Stark gene: SCN9A was added gene: SCN9A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 16392115; 17167479; 17470132; 17145499; 17679678; 25316021; 15958509; 28665811; 23596073; 24817410; 28235406; 16216943; 24813307; 14985375; 1536168 Phenotypes for gene: SCN9A were set to HSAN2D, autosomal recessive, AR, 243000; Erythermalgia, primary, AD, 133020; Insensitivity to pain, congenital, AR, 243000; Small fiber neuropathy, AD,133020; Paroxysmal extreme pain disorder, AD, 167400 |
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| Pain syndromes v0.0 | SCN11A |
Zornitza Stark gene: SCN11A was added gene: SCN11A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915 Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552; Hereditary sensory and autonomic neuropathy type VII; Familial episodic pain syndrome |
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| Pain syndromes v0.0 | SCN10A |
Zornitza Stark gene: SCN10A was added gene: SCN10A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307 Phenotypes for gene: SCN10A were set to Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 |
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| Pain syndromes v0.0 | RETREG1 |
Zornitza Stark gene: RETREG1 was added gene: RETREG1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336 Phenotypes for gene: RETREG1 were set to Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B |
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| Pain syndromes v0.0 | RAB7A |
Zornitza Stark gene: RAB7A was added gene: RAB7A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB7A were set to 17060578; 15455439; 12545426 Phenotypes for gene: RAB7A were set to HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 |
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| Pain syndromes v0.0 | PRNP |
Zornitza Stark gene: PRNP was added gene: PRNP was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 27716661; 24224623; 25287017; 26768678 Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related, 137440 |
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| Pain syndromes v0.0 | PRDM12 |
Zornitza Stark gene: PRDM12 was added gene: PRDM12 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867 Phenotypes for gene: PRDM12 were set to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII |
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| Pain syndromes v0.0 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 11668614; 8696348; 18077166 Phenotypes for gene: NTRK1 were set to HSAN 4; Insensitivity to pain, congenital, with anhidrosis, 256800; Hereditary sensory neuropathy type IV |
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| Pain syndromes v0.0 | NGF |
Zornitza Stark gene: NGF was added gene: NGF was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NGF were set to 26562335; 20978020; 14976160; 15131306 Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; HSAN 5; Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory neuropathy type V |
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| Pain syndromes v0.0 | KIF1A |
Zornitza Stark gene: KIF1A was added gene: KIF1A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1A were set to 25265257; 21820098 Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 |
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| Pain syndromes v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: GLA 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: GLA were set to Fabry disease, 301500 |
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| Pain syndromes v0.0 | ELP1 |
Zornitza Stark gene: ELP1 was added gene: ELP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to 17985250; 11179021; 11179008; 8102296 Phenotypes for gene: ELP1 were set to Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900 |
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| Pain syndromes v0.0 | ATL3 |
Zornitza Stark gene: ATL3 was added gene: ATL3 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL3 were set to 24459106; 24736309 Phenotypes for gene: ATL3 were set to Neuropathy, hereditary sensory, type IF, 615632; HSN1F |
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| Pain syndromes v0.0 | ATL1 |
Zornitza Stark gene: ATL1 was added gene: ATL1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 21194679; 22340599 Phenotypes for gene: ATL1 were set to HSN1D; Neuropathy, hereditary sensory, type ID, 613708; Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy |
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