Neuromuscular Superpanel (Version 3.352)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1361 Entitiess
Green List (high evidence)	AAAS Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550 Tags
Green List (high evidence)	AAAS Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Glucocorticoid deficiency with achalasia Achalasia-addisonianism-alacrimia syndrome, MIM# 231550 Tags
Green List (high evidence)	AAAS Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Triple A syndrome, 231550 Achalasia-addisonianism-alacrimia syndrome, 231550 Tags
Green List (high evidence)	AARS Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, axonal, type 2N, 613287 HMSN, dHMN/dSMA Tags
Green List (high evidence)	AARS2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Tags
Green List (high evidence)	ABCA1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Tangier Disease (MONDO:0008783 MIM#205400) Tags
Green List (high evidence)	ABCB7 Ataxia - paediatric v1.30	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, with ataxia Sideroblastic Anemia and Ataxia Anemia, sideroblast with ataxia, 300135 Tags
Green List (high evidence)	ABCD1 Hereditary Neuropathy - complex v1.19	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Adrenomyeloneuropathy, adult (MIM#300100) Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance Tags
Green List (high evidence)	ABCD1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes spastic paraparesis Hereditary spastic paraplegia Adrenoleukodystrophy, 300100 VLCFA accumulation adrenal failure Tags
Green List (high evidence)	ABCD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags
Green List (high evidence)	ABCD1 Ataxia - adult onset v1.18	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Adrenoleukodystrophy Tags
Green List (high evidence)	ABHD12 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia Neurodegeneration, childhood-onset, with cerebellar atrophy,612674 HMSN Tags
Green List (high evidence)	ABHD12 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Tags
Green List (high evidence)	ABHD12 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Green List (high evidence)	ABHD16A Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities Tags
Green List (high evidence)	ABHD5 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dorfman-Chanarin disease MONDO:0010155 Tags
Green List (high evidence)	ACAD9 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags treatable
Green List (high evidence)	ACADM Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Rhabdomyolysis Tags treatable
Green List (high evidence)	ACADVL Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes VLCAD deficiency 201475 Tags treatable
Green List (high evidence)	ACBD6 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green List (high evidence)	ACO2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green List (high evidence)	ACOX1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mitchell syndrome, MIM# 618960 Tags
Green List (high evidence)	ACTA1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800 Tags
Green List (high evidence)	ACTA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, scapulohumeroperoneal 616852 Tags
Green List (high evidence)	ACTA2 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis Tags
Green List (high evidence)	ACTG2 Gastrointestinal neuromuscular disease v1.24	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Visceral myopathy, 155310 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 Tags
Green List (high evidence)	ACTN2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 6, adult onset MIM#618655 Tags
Green List (high evidence)	ACTN2 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Expert Review Amber Expert list Phenotypes Congenital Myopathy 8 (MIM#618654 MONDO: 0032852) Tags
Green List (high evidence)	ADAR Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 6, 615010 autosomal recessive Tags
Green List (high evidence)	ADGRG1 Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Polymicrogyria, Frontoparietal, 606854 Polymicrogyria, perisylvian type, 615752 Tags
Green List (high evidence)	ADPRHL2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 Tags new gene name
Green List (high evidence)	ADPRHL2 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green List (high evidence)	ADSSL1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy MONDO:0018958 Tags
Green List (high evidence)	ADSSL1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Tags
Green List (high evidence)	AFG3L2 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Green List (high evidence)	AFG3L2 Ataxia - adult onset v1.18	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia, spastic, 5, autosomal recessive spastic ataxia 5, 614487 Spinocerebellar ataxia 28 Spinocerebellar ataxia 28, 610246 Spinocerebellar Ataxia, Dominant Tags
Green List (high evidence)	AFG3L2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487 Spinocerebellar ataxia 28, MIM# 610246 Tags
Green List (high evidence)	AFG3L2 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776 Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia Tags
Green List (high evidence)	AGK Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Sengers Syndrome (MIM#212350 MONDO:0008922) Tags
Green List (high evidence)	AGL Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green List (high evidence)	AGRN Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 Tags clinical trial treatable
Green List (high evidence)	AGTPBP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Tags
Green List (high evidence)	AGTPBP1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Tags
Green List (high evidence)	AGXT Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperoxaluria, primary, type 1, MIM#259900 Tags clinical trial treatable
Green List (high evidence)	AHCY Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Expert list Victorian Clinical Genetics Services Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Tags
Green List (high evidence)	AHI1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3 Tags
Green List (high evidence)	AIFM1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816) Encephalamyopathy, Mitochondrial, X-Linked Tags
Green List (high evidence)	AIFM1 Hereditary Neuropathy - complex v1.19	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 6 Cowchock syndrome HMSN Tags
Green List (high evidence)	AIMP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 3, MIM#260600 Tags
Green List (high evidence)	ALDH18A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162 Tags
Green List (high evidence)	ALDH18A1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162 Tags
Green List (high evidence)	ALDH18A1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities Tags
Green List (high evidence)	ALDH3A2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sjögren-Larsson syndrome Tags
Green List (high evidence)	ALDH5A1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green List (high evidence)	ALDOA Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XII 611881 Tags
Green List (high evidence)	ALS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paralysis, infantile onset ascending, MIM# 607225 Tags
Green List (high evidence)	ALS2 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100 MONDO: MONDO:0008780) Tags
Green List (high evidence)	AMACR Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alpha-methylacyl-CoA racemase deficiency (MIM#614307) Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids Tags
Green List (high evidence)	AMFR Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 89, autosomal recessive, MIM# 620379 Tags
Green List (high evidence)	ANO10 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 Spinocerebellar ataxia, autosomal recessive 10 Tags
Green List (high evidence)	ANO10 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 Tags
Green List (high evidence)	ANO5 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307 Tags
Green List (high evidence)	ANO5 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Green List (high evidence)	ANXA11 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Amytrophic lateral sclerosis 23 MIM#617839 Tags
Green List (high evidence)	AP1S1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes MEDNIK Syndrome (MONDO:0012251, MIM#609313) Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma Tags
Green List (high evidence)	AP1S2 Ataxia - paediatric v1.30	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green List (high evidence)	AP4B1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 Tags
Green List (high evidence)	AP4E1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 51, autosomal recessive, 613744 Tags
Green List (high evidence)	AP4M1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 Tags
Green List (high evidence)	AP4S1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes developmental delay Spastic paraplegia 52, autosomal recessive, 614067 seizures Tags
Green List (high evidence)	AP5Z1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 MONDO:0013342 Tags
Green List (high evidence)	APOA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Amyloidosis, 3 or more types 105200 Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy Tags
Green List (high evidence)	APTX Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920) Tags
Green List (high evidence)	APTX Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Tags
Green List (high evidence)	ARG1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Progressive spastic tetraplegia Argininaemia, 207800 Tags treatable
Green List (high evidence)	ARL13B Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green List (high evidence)	ARL6IP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy Tags
Green List (high evidence)	ARL6IP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 61, autosomal recessive, MIM#615685 Tags
Green List (high evidence)	ARSA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy, MIM# 250100 Severe late infantile form with mental retardation and severe course. Regression before 30 months adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy Tags
Green List (high evidence)	ARSA Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic Leukodystrophy, 250100 Metachromatic leukodystrophy (#250100) Tags clinical trial treatable
Green List (high evidence)	ASAH1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy dHMN/dSMA Tags
Green List (high evidence)	ASCC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with congenital bone fractures 2 Tags
Green List (high evidence)	ASCC1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Congenital Myopathy - MONDO:0019952 Tags
Green List (high evidence)	ASCC1 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807 MIM#616867) Tags
Green List (high evidence)	ASCC3 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Tags
Green List (high evidence)	ATAD3A Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy Tags
Green List (high evidence)	ATAD3A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Harel-Yoon syndrome, MIM# 617183 Tags
Green List (high evidence)	ATCAY Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, cerebellar, Cayman type, MIM# 601238 MONDO:0011025 Tags
Green List (high evidence)	ATG7 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green List (high evidence)	ATL1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory, type ID , MIM#613708 MONDO:0013381 Tags
Green List (high evidence)	ATL1 Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 3A, autosomal dominant MIM#182600 Tags
Green List (high evidence)	ATL1 Hereditary Spastic Paraplegia - adult onset v1.11	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 3A, MIM 182600 Hereditary spastic paraplegia, AR Tags
Green List (high evidence)	ATL1 Hereditary Spastic Paraplegia - paediatric v1.86	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hereditary sensory neuropathy type ID, MIM 613708 Spastic paraplegia 3A, MIM 182600 Hereditary spastic paraplegia, AR Tags
Green List (high evidence)	ATL3 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary sensory neuropathy type IF HSAN/SFN Tags
Green List (high evidence)	ATM Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia MIM#208900 Tags
Green List (high evidence)	ATM Ataxia - adult onset v1.18	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia, 607585 Ataxia-Telangiectasia Tags
Green List (high evidence)	ATP13A2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 78, autosomal recessive, 617225 Kufor-Rakeb syndrome, 606693 AR complicated hereditary spastic paraplegia Adult-onset lower-limb predominant spastic paraparesis Tags
Green List (high evidence)	ATP13A2 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green List (high evidence)	ATP1A1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036 MONDO:0054833 Tags
Green List (high evidence)	ATP1A3 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 2 MIM#614820 CAPOS syndrome MIM#601338 Tags
Green List (high evidence)	ATP1A3 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes CAPOS syndrome, 601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Dystonia-12, 128235 Alternating hemiplegia of childhood 2, 614820 DYSTONIA 12, 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) Tags
Green List (high evidence)	ATP2A1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brody myopathy 601003 Tags
Green List (high evidence)	ATP2A1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brody myopathy, MIM# 601003 Tags
Green List (high evidence)	ATP2B2 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green List (high evidence)	ATP6V0A1 Ataxia - paediatric v1.30	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green List (high evidence)	ATP6V1A Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IID MIM#617403 Tags
Green List (high evidence)	ATP7A Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, distal, X-linked 3, MIM# 300489 dHMN/dSMA Tags
Green List (high evidence)	ATP8A2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Tags
Green List (high evidence)	ATRX Gastrointestinal neuromuscular disease v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green List (high evidence)	B3GALNT2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green List (high evidence)	B4GALNT1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive MIM#609195 Tags
Green List (high evidence)	B4GALNT1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 Tags
Green List (high evidence)	B4GAT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Tags
Green List (high evidence)	BAG3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 6 612954 Tags
Green List (high evidence)	BBS1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, 209900 Tags
Green List (high evidence)	BCAS3 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green List (high evidence)	BCKDHB Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy Tags treatable
Green List (high evidence)	BICD2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949 Tags
Green List (high evidence)	BICD2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290 MONDO:0014121 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 dHMN/dSMA Tags
Green List (high evidence)	BIN1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Centronuclear myopathy 2 (MONDO: 0009709 MIM#255200) Tags
Green List (high evidence)	BRAT1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green List (high evidence)	BSCL2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, distal hereditary motor, type VC, MIM# 619112 Tags
Green List (high evidence)	BSCL2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Silver spastic paraplegia syndrome MIM#270685 Encephalopathy, progressive, with or without lipodystrophy MIM#615924 Tags
Green List (high evidence)	BSCL2 Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Silver spastic paraplegia syndrome MIM#270685 Neuropathy, distal hereditary motor, type VA MIM#600794 Tags
Green List (high evidence)	BSCL2 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Silver spastic paraplegia syndrome, 270685 HSP 17, MONDO:0010043 Tags
Green List (high evidence)	BVES Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Tags
Green List (high evidence)	C12orf65 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 HMSN Tags new gene name
Green List (high evidence)	C12orf65 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 55, autosomal recessive, 615035 optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy Combined oxidative phosphorylation deficiency 7, 613559 Tags new gene name
Green List (high evidence)	C19orf12 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodegeneration with brain iron accumulation 4, MIM# 614298 Spastic paraplegia 43, autosomal recessive, MIM# 615043 Tags
Green List (high evidence)	C19orf12 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with brain iron accumulation 4, 614298 Spastic paraplegia 43, autosomal recessive, 615043 Tags
Green List (high evidence)	C19orf12 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs Tags
Green List (high evidence)	C1QBP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Victorian Clinical Genetics Services Phenotypes Progressive external opthalmoplegia mitochondrial myopathy Tags
Green List (high evidence)	C5orf42 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 17, MIM# 614615 Tags
Green List (high evidence)	CA8 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Green List (high evidence)	CACNA1A Ataxia - paediatric v1.30	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green List (high evidence)	CACNA1A Ataxia - adult onset v1.18	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 6 familial hemiplegic migraine type 1, 141500 Familial hemiplegic migraine 1, 141500 SCA6, 183086 episodic ataxia type 2 (EA2),108500 Episodic ataxia type 2, 108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Episodic ataxia, type 2 Tags STR
Green List (high evidence)	CACNA1G Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes early-onset SCA42 with neurodevelopmental deficits, 618087 Spinocerebellar ataxia 42, 616795 Tags
Green List (high evidence)	CACNA1G Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087 Tags
Green List (high evidence)	CACNA1S Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Malignant hyperthermia susceptibility type 5 Hypokalemic periodic paralysis, type 1, 170400 Tags
Green List (high evidence)	CACNA1S Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes {Malignant hyperthermia susceptibility 5}, 601887 Tags
Green List (high evidence)	CACNA1S Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Congenital myopathy MONDO:0019952 Tags
Green List (high evidence)	CACNA2D2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green List (high evidence)	CAD Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 50 OMIM # 616457 Tags
Green List (high evidence)	CADM3 Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519 Tags
Green List (high evidence)	CAMTA1 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Cerebellarataxia, nonprogressive, with mental retardation, 614756 Cerebellar ataxia with mental retardation, 614756 Tags
Green List (high evidence)	CANVAS STR Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	CANVAS STR Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	CAPN1 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Expert list Phenotypes Spastic paraplegia 76, autosomal recessive, 616907 MONDO:0014827 Tags
Green List (high evidence)	CAPN1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Phenotypes Spastic paraplegia 76 autosomal recessive, 616907 MONDO:0014827 Tags
Green List (high evidence)	CAPN3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129 Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Tags
Green List (high evidence)	CASK Ataxia - paediatric v1.30	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Green List (high evidence)	CASQ1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Phenotypes Myopathy, vacuolar, with CASQ1 aggregates 616231 Tags founder
Green List (high evidence)	CASQ1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Tags
Green List (high evidence)	CAV3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Caveolinopathy MONDO:0016146 Tags
Green List (high evidence)	CAV3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, distal, Tateyama type 614321 Rippling muscle disease 2 606072 Tags
Green List (high evidence)	CAV3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type IC 607801 Rippling muscle disease 606072 Myopathy, distal, Tateyama type 614321 Tags
Green List (high evidence)	CAVIN1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Phenotypes Lipodystrophy, congenital generalized, type 4 (MIM#613327) Tags treatable
Green List (high evidence)	CBY1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags
Green List (high evidence)	CC2D2A Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9 Tags
Green List (high evidence)	CCDC82 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CCDC82-related Tags
Green List (high evidence)	CD59 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300 Tags
Green List (high evidence)	CEP290 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 5 Tags
Green List (high evidence)	CEP41 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15 Tags
Green List (high evidence)	CFL2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 7 (MONDO:0012538 MIM#610687) Tags
Green List (high evidence)	CHAT Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital myasthenics syndrome associated with episodic apnea Myasthenic syndrome, congenital, 6, presynaptic, 254210 Tags treatable
Green List (high evidence)	CHCHD10 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Green List (high evidence)	CHCHD10 Motor Neurone Disease v1.27	3 reviews 1 green	Unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	CHCHD10 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, Jokela type: 615048 CMT2 dHMN/dSMA Tags founder
Green List (high evidence)	CHKB Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green List (high evidence)	CHMP2B Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936) Tags
Green List (high evidence)	CHRM3 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Prune belly syndrome, MIM# 100100 Posterior urethral valves & prune belly syndrome Tags
Green List (high evidence)	CHRNA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Tags
Green List (high evidence)	CHRNA1 Congenital Myasthenia v1.10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 1B, fast-channel, 608930 Myasthenic syndrome, congenital, 1A, slow-channel, 601462 Tags treatable
Green List (high evidence)	CHRNB1 Congenital Myasthenia v1.10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Tags
Green List (high evidence)	CHRND Congenital Myasthenia v1.10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323 Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321 Tags treatable
Green List (high evidence)	CHRNE Congenital Myasthenia v1.10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Tags treatable
Green List (high evidence)	CHRNG Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 fetal akinesia deformation sequence syndrome/FADS Neonatal congenital myasthenia Escobar syndrome Myasthenia gravis, neonatal transient Tags
Green List (high evidence)	CHST14 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Expert Review Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Tags
Green List (high evidence)	CIAO1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Tags
Green List (high evidence)	CLCN1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myotonia congenita, dominant, 160800 Hyperkalemic Periodic Paralysis Myotonia Congenita Myotonia Myotonia congenita, recessive, 255700 Myotonia levior, recessive Tags
Green List (high evidence)	CLCN2 Ataxia - adult onset v1.18	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 Leukoencephalopathy with ataxia, 615651 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags
Green List (high evidence)	CLMP Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital short bowel syndrome , MIM#615237 Tags
Green List (high evidence)	CLN5 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis neuronal 5, MIM# 256731 Tags
Green List (high evidence)	CLN6 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid neuronal lipofuscinosis 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid neuronal lipofuscinosis kufs type, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780 Tags
Green List (high evidence)	CLP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 10 dHMN/dSMA Tags
Green List (high evidence)	CLPP Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Green List (high evidence)	CNTNAP1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049 MIM#618186) Tags
Green List (high evidence)	COA7 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia with axonal neuropathy Tags
Green List (high evidence)	COA7 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green List (high evidence)	COA7 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy Tags
Green List (high evidence)	COL12A1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ullrich congenital muscular dystrophy 2 , MIM# 616470 Tags
Green List (high evidence)	COL13A1 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 19, 616720 Tags treatable
Green List (high evidence)	COL6A1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green List (high evidence)	COL6A1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green List (high evidence)	COL6A2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	COL6A2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COL6A3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	COL6A3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COLQ Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 5, MIM# 603034 Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency Tags clinical trial treatable
Green List (high evidence)	COQ4 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Childhood-onset ataxia Tags treatable
Green List (high evidence)	COQ4 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spastic ataxia 10, autosomal recessive, MIM# 620666 Tags
Green List (high evidence)	COQ7 Hereditary Neuropathy - complex v1.19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402 Tags
Green List (high evidence)	COQ8A Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green List (high evidence)	COQ8A Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Primary coenzyme Q10 deficiency 4, 612016 Spinocerebellar Ataxia Type Coenzyme Q10 deficiency, primary 4, 612016 Tags treatable
Green List (high evidence)	COX20 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes sensory neuronopathy sensory neuron disease ganglionopathy Tags
Green List (high evidence)	COX20 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, 220110 Mitochondrial complex IV deficiency Tags
Green List (high evidence)	COX6A1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039 MONDO:0014467 HMSN Tags
Green List (high evidence)	CP Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green List (high evidence)	CPOX Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Coproporphyria, MIM#121300 Harderoporphyria, MIM#121300 Tags
Green List (high evidence)	CPT1C Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 73, autosomal dominant, MIM#616282 MONDO:0014568 Tags
Green List (high evidence)	CPT2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Tags treatable
Green List (high evidence)	CSF1R Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820 ataxia Tags
Green List (high evidence)	CSMD1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	CSTB Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800 Tags 5'UTR STR
Green List (high evidence)	CTBP1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Tags
Green List (high evidence)	CTDP1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) Tags deep intronic founder
Green List (high evidence)	CWF19L1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Autosomal recessive spinocerebellar ataxia type 17, 616127 Tags
Green List (high evidence)	CYP27A1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Cholestanol storage disease Tags
Green List (high evidence)	CYP27A1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	CYP27A1 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, 213700 MONDO:0008948 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green List (high evidence)	CYP2U1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Green List (high evidence)	CYP2U1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Green List (high evidence)	CYP7B1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green List (high evidence)	CYP7B1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 MONDO:0010047 Tags
Green List (high evidence)	CYP7B1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV Tags
Green List (high evidence)	DAG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Green List (high evidence)	DAG1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Walker-Warburg syndrome and tectocerebellar dysgraphia Tags
Green List (high evidence)	DAGLA Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Tags
Green List (high evidence)	DARS Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green List (high evidence)	DARS Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Brain stem and spinal cord Hypomyelination leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags
Green List (high evidence)	DARS2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green List (high evidence)	DARS2 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings Tags
Green List (high evidence)	DCTN1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641 MONDO:0011879 Tags
Green List (high evidence)	DCTN1 Motor Neurone Disease v1.27	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DDHD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 28, autosomal recessive, MIM# 609340 MONDO:0012256 Tags
Green List (high evidence)	DDHD1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 MONDO:0012256 Tags
Green List (high evidence)	DDHD2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018 Tags
Green List (high evidence)	DDHD2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. Spastic paraplegia 54 Tags
Green List (high evidence)	DDHD2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018 Tags
Green List (high evidence)	DEGS1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Tags
Green List (high evidence)	DES Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 1 601419 Tags
Green List (high evidence)	DES Gastrointestinal neuromuscular disease v1.24	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 1 , MIM#601419 Tags
Green List (high evidence)	DGUOK Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy Tags
Green List (high evidence)	DGUOK Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green List (high evidence)	DHDDS Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags
Green List (high evidence)	DHH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 Tags
Green List (high evidence)	DHX16 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733 MONDO:0032890) Tags
Green List (high evidence)	DHX9 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related Tags
Green List (high evidence)	DM1 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900 Tags
Green List (high evidence)	DMD Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Duchenne muscular dystrophy (MIM#310200) Becker muscular dystrophy (MIM#300376) Tags SV/CNV
Green List (high evidence)	DMD Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Becker muscular dystrophy 300376 Tags
Green List (high evidence)	DMD Gastrointestinal neuromuscular disease v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Duchenne muscular dystrophy, MIM# 310200 Tags SV/CNV
Green List (high evidence)	DMD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376 Tags
Green List (high evidence)	DNA2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green List (high evidence)	DNAJB2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green List (high evidence)	DNAJB2 Motor Neurone Disease v1.27	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green List (high evidence)	DNAJB4 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Congenital Myopathy 21 with early respiratory failure (MIM#620326 MONDO:005336) Tags
Green List (high evidence)	DNAJB4 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Expert Review Green Literature Phenotypes distal myopathy MONDO:0018949 Myopathy, MONDO:0005336, DNAJB4-related Tags
Green List (high evidence)	DNAJB6 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1E, 603511 Tags
Green List (high evidence)	DNAJB6 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DNAJC19 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome 3-methylglutaconic aciduria type V, 610198 Tags
Green List (high evidence)	DNAJC3 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Tags
Green List (high evidence)	DNAJC5 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 Ceroid neuronal lipofuscinosis 4, Parry type, 162350 Tags
Green List (high evidence)	DNM2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 MONDO:0011674 Tags
Green List (high evidence)	DNM2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Centronuclear Myopathy 1 (MIM#160150 MONDO:0008048) Tags
Green List (high evidence)	DNM2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant centronuclear myopathy MONDO:0008048 Tags
Green List (high evidence)	DNMT1 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Dementia, Deafness, and Sensory Neuropathy HSAN/SFN Tags
Green List (high evidence)	DNMT1 Ataxia - adult onset v1.18	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cerebellar ataxia, deafness and narcolepsy, 604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Hereditary sensory neuropathy type IE, 614116 Tags
Green List (high evidence)	DOCK3 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green List (high evidence)	DOK7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 10 254300 Tags
Green List (high evidence)	DOK7 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 10, 254300 Myasthenia, limb-girdle, familial Tags
Green List (high evidence)	DOLK Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green List (high evidence)	DPAGT1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Green List (high evidence)	DPAGT1 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 Limb girdle congenital myasthenic Congenital disorder of glycosylation, type Ij, 608093 Tags
Green List (high evidence)	DPM1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	Unknown	Sources Expert Review Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DPM3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Tags
Green List (high evidence)	DPM3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937 Tags
Green List (high evidence)	DRP2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth, intermediate X-linked HMSN Tags
Green List (high evidence)	DRPLA STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green List (high evidence)	DST Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653 MONDO:0013839 HSAN/SFN Tags
Green List (high evidence)	DTNA Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green List (high evidence)	DTNA Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green List (high evidence)	DYNC1H1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600 MONDO:0008026) Tags
Green List (high evidence)	DYNC1H1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 Tags
Green List (high evidence)	DYSF Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DYSF Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Miyoshi muscular dystrophy 1 254130 Tags
Green List (high evidence)	DYSF Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, distal, with anterior tibial onset, 606768 Miyoshi muscular dystrophy 1, 254130 Muscular dystrophy, limb-girdle, type 2B, 253601 Tags
Green List (high evidence)	EBF3 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 Tags
Green List (high evidence)	EDN3 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Waardenburg syndrome, type 4B, MIM# 613265 Tags
Green List (high evidence)	EDNRB Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Waardenburg syndrome, type 4A, MIM# 277580 Tags
Green List (high evidence)	EEFSEC Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related Tags
Green List (high evidence)	EGR2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1D 607678 AD Dejerine-Sottas disease 145900 AD, AR Hypomyelinating neuropathy, congenital, 1 605253 AD, AR Tags
Green List (high evidence)	EIF2B1 Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B1 Ataxia - adult onset v1.18	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B2 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B2 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B3 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B4 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	EIF2B4 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B5 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green List (high evidence)	EIF2B5 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green List (high evidence)	ELOVL1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green List (high evidence)	ELOVL4 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia 34 133190 Spinocerebellar ataxia 34, 133190 Tags
Green List (high evidence)	ELOVL5 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 38, MIM#615957 Tags
Green List (high evidence)	ELP1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dysautonomia, familial, 223900 Riley-Day syndrome MONDO:0009131 Hereditary sensory and autonomic neuropathy 3 HSAN/SFN Tags
Green List (high evidence)	EMD Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green List (high evidence)	EMD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green List (high evidence)	ENO3 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glycogen storage disease XIII 612932 Tags
Green List (high evidence)	ENTPD1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 64, autosomal recessive MIM#615683 Tags
Green List (high evidence)	EPG5 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Vici Syndrome (MONDO: 0009452 MIM#242840) Tags
Green List (high evidence)	EPM1 STR Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags STR
Green List (high evidence)	EPM2A Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green List (high evidence)	ERBB3 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180 Complex neurocristinopathy Tags
Green List (high evidence)	ERCC4 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia Xeroderma pigmentosum, group F, MIM# 278760 Tags
Green List (high evidence)	ERCC6 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type B MIM#133540 Tags
Green List (high evidence)	ERCC8 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome, type A MIM#216400 Tags
Green List (high evidence)	ERLIN1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 62, 615681 Hereditary spastic paraplegia Tags
Green List (high evidence)	ERLIN2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Tags
Green List (high evidence)	ERLIN2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Tags
Green List (high evidence)	ETFA Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIA 231680 Tags treatable
Green List (high evidence)	ETFDH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 sensory neuropathy Tags treatable
Green List (high evidence)	ETFDH Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIC 231680 Tags treatable
Green List (high evidence)	EXOSC5 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia Tags
Green List (high evidence)	EXOSC8 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Pontocerebellar hypoplasia, type 1c, MIM# 616081 Tags
Green List (high evidence)	EXOSC9 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia, type 1D, MIM# 618065 Tags
Green List (high evidence)	FA2H Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 35, autosomal recessive, MIM# 612319 Tags
Green List (high evidence)	FA2H Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 35, autosomal recessive, 611026 MONDO:0012866 Tags
Green List (high evidence)	FA2H Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 35, autosomal recessive MIM#612319 Tags
Green List (high evidence)	FAH Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Tyrosinemia, type I, MIM# 276700 Tags treatable
Green List (high evidence)	FAM111B Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Phenotypes Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Tags
Green List (high evidence)	FAR1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cataracts, spastic paraparesis, and speech delay, MIM#619338 Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 Tags
Green List (high evidence)	FARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Tags
Green List (high evidence)	FASTKD2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Combined oxidative phosphorylation deficiency 44 (MIM#618855) Tags
Green List (high evidence)	FAT2 Ataxia - adult onset v1.18	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Expert list Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia 45, MIM#617769 Tags
Green List (high evidence)	FBLN5 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895 Tags
Green List (high evidence)	FBXL4 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 Tags
Green List (high evidence)	FBXO7 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Parkinson disease 15, autosomal recessive MIM#260300 Tags
Green List (high evidence)	FDX2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Green List (high evidence)	FDXR Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green List (high evidence)	FGD4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, type 4H, 609311 MONDO:0012250 HMSN Tags
Green List (high evidence)	FGF14 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 27 MIM#609307 Tags
Green List (high evidence)	FGF14 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia type 27, 609307 Spinocerebellar ataxia 27 Tags
Green List (high evidence)	FHL1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert list Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717 Tags
Green List (high evidence)	FHL1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green List (high evidence)	FICD Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 92, autosomal recessive, MIM# 620911 Tags
Green List (high evidence)	FICD Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 92, autosomal recessive, MIM# 620911 Tags
Green List (high evidence)	FIG4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 4J, MIM# 611228 MONDO:0012640 HMSN Tags
Green List (high evidence)	FILIP1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Tags
Green List (high evidence)	FKBP14 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Tags
Green List (high evidence)	FKRP Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes myopathy caused by variation in FKRP MONDO:0700066 Tags
Green List (high evidence)	FKRP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	FKRP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green List (high evidence)	FKTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800 Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Cardiomyopathy, dilated, 1X, 611615 Tags
Green List (high evidence)	FKTN Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green List (high evidence)	FLAD1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green List (high evidence)	FLNA Gastrointestinal neuromuscular disease v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Intestinal pseudoobstruction, neuronal, MIM# 300048 Congenital short bowel syndrome, MIM# 300048 Tags
Green List (high evidence)	FLNC Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Phenotypes Cardiomyopathy, familial restrictive 5 617047 Myopathy, distal, 4 614065 Myopathy, myofibrillar, 5 609524 Tags
Green List (high evidence)	FLVCR1 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Posterior column ataxia with retinitis pigmentosa, 609033 Ataxia, posterior column, with retinitis pigmentosa, Posterior Column Ataxia with Retinitis Pigmentosa Tags
Green List (high evidence)	FLVCR1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia, posterior column, with retinitis pigmentosa MIM#609033 Tags
Green List (high evidence)	FLVCR1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033 Tags
Green List (high evidence)	FOLR1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Neurodegeneration due to cerebral folate transport deficiency Tags
Green List (high evidence)	FRDA STR Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green List (high evidence)	FRMD5 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green List (high evidence)	FTDALS STR Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green List (high evidence)	FUS Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030) Tags
Green List (high evidence)	FXN Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green List (high evidence)	FXN Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia with retained reflexes,229300 Friedreich ataxia, 229300 Friedreichataxia, 229300 Tags STR
Green List (high evidence)	FXN Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia, 229300 Tags STR SV/CNV
Green List (high evidence)	FXN Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Friedreich ataxia, MIM# 229300 Tags STR
Green List (high evidence)	FXR1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823 MONDO:0032937) Tags
Green List (high evidence)	FXTAS STR Ataxia - adult onset v1.18	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
Green List (high evidence)	GAA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycogen storage disease II 232300 Tags
Green List (high evidence)	GAA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease II (MIM#232300) Tags
Green List (high evidence)	GALC Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Krabbe disease MIM#245200 Tags
Green List (high evidence)	GAN Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Green List (high evidence)	GAN Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Green List (high evidence)	GARS Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Spinal muscular atrophy, infantile, James type, MIM# 619042 Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new gene name
Green List (high evidence)	GBA2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, MIM# 614409 MONDO:0013737 Tags
Green List (high evidence)	GBA2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy Tags
Green List (high evidence)	GBA2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 MONDO:0013737 Tags
Green List (high evidence)	GBA2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 46, autosomal recessive, MIM# 614409 Tags
Green List (high evidence)	GBE1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body disease, adult form MIM#263570 Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI Tags
Green List (high evidence)	GBE1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GBE1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GBE1 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GBF1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483 Axonal Neuropathy Tags
Green List (high evidence)	GCH1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia MONDO:0019064, GCH1-related Tags
Green List (high evidence)	GCH1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green List (high evidence)	GDAP1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706 Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340 Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Tags
Green List (high evidence)	GDAP2 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia Tags
Green List (high evidence)	GEMIN5 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333 Tags
Green List (high evidence)	GFAP Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Alexander disease MONDO:0008752 Tags
Green List (high evidence)	GFAP Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Alexander disease, 203450 Autosomal Dominant Ataxia Alexander disease Tags
Green List (high evidence)	GFAP Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alexander disease MONDO:0008752 Tags
Green List (high evidence)	GFER Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Tags
Green List (high evidence)	GFPT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates MIM#610542 Limb-girdle congenital myasthenic syndrome Tags
Green List (high evidence)	GFPT1 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Limb-girdle congenital myasthenic syndrome Tags
Green List (high evidence)	GGPS1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518 Muscular dystrophy Deafness Ovarian insufficiency Tags
Green List (high evidence)	GJA1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Tags
Green List (high evidence)	GJB1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 MONDO:0010549 HMSN Tags
Green List (high evidence)	GJC2 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomyelinating leukodystrophy 2, 608804 Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Spastic paraplegia 44, 613206 Tags
Green List (high evidence)	GJC2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green List (high evidence)	GLA Hereditary Neuropathy - complex v1.19	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cardiomyopathy HSAN/SFN Fabry disease Tags
Green List (high evidence)	GLRX5 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spasticity, childhood-onset, with hyperglycinemia 616859 Tags
Green List (high evidence)	GMPPB Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GMPPB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Green List (high evidence)	GMPPB Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome Tags
Green List (high evidence)	GMPPB Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352 Limb myalgia exercise intolerance myoglobinuria Tags
Green List (high evidence)	GNB4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185 MONDO:0014074 HMSN Tags
Green List (high evidence)	GNE Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Nonaka myopathy (MIM#605820) Tags
Green List (high evidence)	GOLGA2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Green List (high evidence)	GOSR2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018 Tags
Green List (high evidence)	GOSR2 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, congenital, with or without seizures, MIM# 620166 Tags
Green List (high evidence)	GPAA1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Royal Melbourne Hospital Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green List (high evidence)	GPT2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green List (high evidence)	GRID2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green List (high evidence)	GRM1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 13 Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 Tags
Green List (high evidence)	GRN Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Tags
Green List (high evidence)	GSN Hereditary Neuropathy - complex v1.19	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyloidosis, Finnish type MIM#105120 Tags
Green List (high evidence)	GSS Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Gluthathione synthetase deficiency, MIM# 266130 Tags
Green List (high evidence)	GUK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green List (high evidence)	GYG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 2, MIM# 616199 Glycogen storage disease XV , MIM# 613507 Tags
Green List (high evidence)	GYG1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green List (high evidence)	GYS1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, muscle 611556 Tags
Green List (high evidence)	HACD1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Congenital myopathy 11 (MIM#619967 MONDO:0019952) Tags
Green List (high evidence)	HACE1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Spastic paraplegia psychomotor retardation Tags
Green List (high evidence)	HADHA Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HARS Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 MONDO:0014711 HMSN Tags new gene name
Green List (high evidence)	HEXA Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800 Tags
Green List (high evidence)	HEXA Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green List (high evidence)	HEXA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease Tags
Green List (high evidence)	HEXB Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms MIM#268800 Tags
Green List (high evidence)	HEXB Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Sandhoff disease, 268800 Tags
Green List (high evidence)	HEXB Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease Tags
Green List (high evidence)	HINT1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646 HMSN, dHMN/dSMA Tags
Green List (high evidence)	HK1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Neuropathy, hereditary motor and sensory, Russe type, 605285 Tags 5'UTR founder
Green List (high evidence)	HMBS Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Porphyria, acute intermittent MIM#176000 Tags
Green List (high evidence)	HMBS Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute intermittent MIM#176000 MONDO:0008294 Tags
Green List (high evidence)	HMGCR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Tags
Green List (high evidence)	HMGCS1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rigid spine syndrome, MONDO:0019951, HMGCS1-related Tags
Green List (high evidence)	HNRNPA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 3, MIM# 610099 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Tags
Green List (high evidence)	HNRNPA1 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Green List (high evidence)	HNRNPA2B1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Royal Melbourne Hospital Phenotypes oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Tags
Green List (high evidence)	HNRNPDL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1G 609115 Tags
Green List (high evidence)	HPDL Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green List (high evidence)	HSPB1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, axonal, type 2F, 606595 MONDO:0011687 HMSN, dHMN/dSMA Neuropathy, distal hereditary motor, type IIB, 608634 MONDO:0012080 Tags
Green List (high evidence)	HSPB8 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Tags
Green List (high evidence)	HSPB8 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Neuropathy, distal hereditary motor, type IIA, 158590 Charcot Marie Tooth disease, axonal, type 2L, 608673 Tags
Green List (high evidence)	HSPD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 4, MIM# 612233 Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Green List (high evidence)	IARS2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Tags
Green List (high evidence)	IBA57 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 74, autosomal recessive MIM#616451 Tags
Green List (high evidence)	IDS Gastrointestinal neuromuscular disease v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Mucopolysaccharidosis II, MIM# 309900 Tags
Green List (high evidence)	IFIH1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green List (high evidence)	IGHMBP2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN, dHMN/dSMA Charcot-Marie-Tooth disease, axonal, type 2S 616155 Neuronopathy, distal hereditary motor, type VI, 604320 Tags
Green List (high evidence)	INF2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, dominant intermediate E, 614455 HMSN Tags
Green List (high evidence)	INPP4A Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes INPP4A-related neurodevelopmental disorder Tags
Green List (high evidence)	INPP4A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes INPP4A-related neurodevelopmental disorder Tags
Green List (high evidence)	INPP5E Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1 Tags
Green List (high evidence)	INPP5K Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	IRF2BPL Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 Tags
Green List (high evidence)	ISCU Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags
Green List (high evidence)	ISPD Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags SV/CNV
Green List (high evidence)	ISPD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags
Green List (high evidence)	ITGA7 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Tags
Green List (high evidence)	ITM2B Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia, cataract, deafness, and dementia or psychosis Danish familial dementia Tags
Green List (high evidence)	ITPR1 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, 206700 Spinocerebellar ataxia 29 Spinocerebellar ataxia 29, 117360 Spinocerebellar ataxia 15 Spinocerebellar ataxia 15, 606658 Tags
Green List (high evidence)	ITPR1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green List (high evidence)	ITPR3 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111 Tags
Green List (high evidence)	JAG1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Peripheral neuropathy Tags
Green List (high evidence)	JAG2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566 muscular dystrophy Tags
Green List (high evidence)	JAG2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456 Tags
Green List (high evidence)	JPH1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Congenital myopathy 25, MIM# 620964 Tags
Green List (high evidence)	KBTBD13 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 6, autosomal dominant (MIM# 609273 MONDO:0012237) Tags
Green List (high evidence)	KCNA1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes EA1 Episodic ataxia/myokymia syndrome, 160120 Myokymia Episodic Ataxia Episodic Ataxia, Type 1 Tags
Green List (high evidence)	KCNA1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Episodic ataxia/myokymia syndrome, 160120 Episodic ataxia/myokymia syndrome Tags
Green List (high evidence)	KCNA2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia and ataxia Tags
Green List (high evidence)	KCNA2 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 32, 616366 Tags
Green List (high evidence)	KCNC3 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13 MIM#605259 Tags
Green List (high evidence)	KCNC3 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13 Spinocerebellar ataxia 13, 605259 Tags
Green List (high evidence)	KCND3 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green List (high evidence)	KCND3 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green List (high evidence)	KCNJ10 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome SESAME syndrome, 612780 Tags
Green List (high evidence)	KCNJ2 Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypokalemic Periodic Paralysis, Type 2 Periodic paralysis Andersen syndrome, MIM# 170390 Episodic weakness Andersen syndrome Tags
Green List (high evidence)	KCNN2 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green List (high evidence)	KDM5C Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green List (high evidence)	KIDINS220 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 MONDO:0015007 Tags
Green List (high evidence)	KIF1A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory, type IIC, 614213 Tags
Green List (high evidence)	KIF1A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 30, autosomal dominant MIM# 610357 Spastic paraplegia 30, autosomal recessive 620607 Tags
Green List (high evidence)	KIF1A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 30, autosomal dominant MIM# 610357 Spastic paraplegia 30, autosomal recessive 620607 Tags
Green List (high evidence)	KIF1C Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic ataxia 2,autosomal recessive Autosomal recessive spastic ataxia 2, 611302 Tags
Green List (high evidence)	KIF1C Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 2, autosomal recessive, 611302 Spastic ataxia 2, autosomal recessive Tags
Green List (high evidence)	KIF1C Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia 2, autosomal recessive MIM#611302 Tags
Green List (high evidence)	KIF5A Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921 Tags
Green List (high evidence)	KIF5A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 10, autosomal dominant, MIM# 604187 Tags
Green List (high evidence)	KIF5A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary Neuropathies HMSN Tags
Green List (high evidence)	KIF5A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 10, autosomal dominant, MIM# 604187 Tags
Green List (high evidence)	KIF7 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Koubert syndrome 12 Acrocallosal syndrome, Schinzel type Tags
Green List (high evidence)	KLC2 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Tags SV/CNV
Green List (high evidence)	KLC2 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 Tags SV/CNV
Green List (high evidence)	KLHL40 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags
Green List (high evidence)	KLHL41 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline Myopathy 9 (MIM#615731 MONDO:0014326) Tags
Green List (high evidence)	KPNA3 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spastic paraplegia-88 (SPG88), MIM#620106 Tags
Green List (high evidence)	KY Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Myopathy, myofibrillar, 7 (MIM#617114) Tags
Green List (high evidence)	L1CAM Gastrointestinal neuromuscular disease v1.24	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000 Tags
Green List (high evidence)	L1CAM Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hereditary spastic paraplegia, 308840 MASA syndrome, 303350 X-linked hydrocephalus, 307000 Tags
Green List (high evidence)	LAMA1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Poretti-Boltshauser syndrome Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Tags
Green List (high evidence)	LAMA2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green List (high evidence)	LAMA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green List (high evidence)	LAMP2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Danon disease, MIM# 300257 MONDO:0010281 Tags
Green List (high evidence)	LARGE1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LARS2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy Tags
Green List (high evidence)	LDB3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Phenotypes myofibrillar myopathy 4 MONDO:0012277 Tags
Green List (high evidence)	LDHA Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XI, MIM# 612933 Tags
Green List (high evidence)	LETM1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green List (high evidence)	LIG3 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green List (high evidence)	LITAF Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 1C, MIM# 601098 MONDO:0010995 Tags
Green List (high evidence)	LMNA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Tags
Green List (high evidence)	LMNA Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LMNB1 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukodystrophy, adult-onset, autosomal dominant MIM#169500 Tags SV/CNV
Green List (high evidence)	LMOD3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 10 (MIM# 616165 MONDO:0014513) Tags
Green List (high evidence)	LPIN1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green List (high evidence)	LRP12-ALS_CGG STR Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Amyotrophic lateral sclerosis MONDO:0004976 Amyotrophic lateral sclerosis 28, MIM# 620452 Tags
Green List (high evidence)	LRP4 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 17, 616304 Tags
Green List (high evidence)	LRSAM1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436 MONDO:0013753 HMSN Tags
Green List (high evidence)	LYST Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Chediak-Higashi syndrome MIM#214500 MONDO:0008963 Tags
Green List (high evidence)	MAG Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 75, autosomal recessive, 616680 Cerebellar ataxia Tags
Green List (high evidence)	MAG Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 75, autosomal recessive, MIM# 616680 Cerebellar ataxia Oculomotor apraxia Tags
Green List (high evidence)	MAN2B1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Alpha-mannosidosis MONDO:0009561 Tags
Green List (high evidence)	MAP3K20 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Royal Melbourne Hospital Phenotypes Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760 MONDO:0054695) Tags
Green List (high evidence)	MAPK8IP3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities 618443 Tags
Green List (high evidence)	MARS2 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green List (high evidence)	MARS2 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive, 611390 Tags SV/CNV
Green List (high evidence)	MARS2 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green List (high evidence)	MATR3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes distal myopathy with vocal cord weakness MONDO:0018951 Tags
Green List (high evidence)	MATR3 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	MB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Myopathy, sarcoplasmic body MIM#620286 Tags
Green List (high evidence)	MCM3AP Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green List (high evidence)	MED27 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Tags
Green List (high evidence)	MEGF10 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes MEGF10-Related Myopathy MONDO:0013731 Tags
Green List (high evidence)	MFN2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Hereditary motor and sensory neuropathy VIA, MIM# 601152 Tags
Green List (high evidence)	MGME1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes mitochondrial DNA depletion syndrome 11 MONDO:0014039 Tags
Green List (high evidence)	MICU1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green List (high evidence)	MKS1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 28 Tags
Green List (high evidence)	MLIP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green List (high evidence)	MMACHC Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 Methylmalonic aciduria and homocystinuria, cblC type, 277400 Ataxia and hypogonadism Tags treatable
Green List (high evidence)	MME Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital GeneReviews Phenotypes Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017 MONDO:0014866 Tags
Green List (high evidence)	MORC2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688 MONDO:0014736 Tags
Green List (high evidence)	MORC2 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Axonal type CMT disease type 2Z, 616688 Cerebellar ataxia Tags
Green List (high evidence)	MORC2 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green List (high evidence)	MPDU1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green List (high evidence)	MPV17 Gastrointestinal neuromuscular disease v1.24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Tags
Green List (high evidence)	MPV17 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Tags
Green List (high evidence)	MPZ Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, dominant intermediate D, 60779 Neuropathy, congenital hypomyelinating, 605253 Charcot Marie Tooth disease, type 2J, 607736 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677 HMSN Tags
Green List (high evidence)	MRE11 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-Telangiectasia-Like Disorder Ataxia-telangiectasia-like disorder 1, 604391 Tags
Green List (high evidence)	MRUPAV STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 Tags
Green List (high evidence)	MSTO1 Ataxia - adult onset v1.18	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy and ataxia, 617675 Tags
Green List (high evidence)	MSTO1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert list Phenotypes Myopathy, mitochondrial, and ataxia (MIM#617675) Tags
Green List (high evidence)	MSTO1 Ataxia - paediatric v1.30	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green List (high evidence)	MTCL1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs Tags
Green List (high evidence)	MTFMT Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 MIM#614947 Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 Tags
Green List (high evidence)	MTM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Green List (high evidence)	MTM1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes X-linked myotubular myopathy MONDO:0010683 Tags
Green List (high evidence)	MTMR2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 HMSN MONDO:0011066 Tags
Green List (high evidence)	MTTP Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Abetalipoproteinemia (MIM#200100) Young onset Abetalipoproteinaemia hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy Tags treatable
Green List (high evidence)	MTTP Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags treatable
Green List (high evidence)	MUSK Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 Tags treatable
Green List (high evidence)	MVK Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria 610377 Tags
Green List (high evidence)	MYBPC1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other NHS GMS Phenotypes Congenital Myopathy 16 (MIM#618524) Tags
Green List (high evidence)	MYH11 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Visceral myopathy 2, MIM# 619350 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351 Dominant smooth muscle dysmotility syndrome Tags
Green List (high evidence)	MYH14 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369 Tags
Green List (high evidence)	MYH2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Myopathy, proximal, and ophthalmoplegia MONDO:0011577 Tags
Green List (high evidence)	MYH7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Expert Review Green Expert list Phenotypes Laing distal myopathy (MIM#160500) Scapuloperoneal syndrome, myopathic type (MIM#181430) Tags
Green List (high evidence)	MYH7 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes MYH7-related skeletal myopathy MONDO:0008050 Tags
Green List (high evidence)	MYL2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Tags
Green List (high evidence)	MYL9 Gastrointestinal neuromuscular disease v1.24	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365 Tags
Green List (high evidence)	MYMK Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Carey-Fineman-Ziter syndrome MONDO:0009700 Tags
Green List (high evidence)	MYMX Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome MONDO:0009700 Tags
Green List (high evidence)	MYO18B Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689 Tags
Green List (high evidence)	MYOD1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Congenital Myopathy 17 (MIM#618975) Tags
Green List (high evidence)	MYOT Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, myofibrillar, 3 (MIM#609200) Tags
Green List (high evidence)	MYPN Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Nemaline Myopathy (MIM#617336 MONDO:0018958) Tags
Green List (high evidence)	NAGA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Kanzaki disease, MIM#609242 Tags
Green List (high evidence)	NARS Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green List (high evidence)	NDC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes triple-A syndrome MONDO:0009279 Tags
Green List (high evidence)	NDRG1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot Marie Tooth disease, type 4D, 601455 MONDO:0011085 Tags founder
Green List (high evidence)	NEB Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Nemaline Myopathy 2 (MIM#256030 MONDO: 0009725) Tags
Green List (high evidence)	NEB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949 Tags
Green List (high evidence)	NEFH Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 HMSN Tags
Green List (high evidence)	NEFL Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot-Marie-Tooth disease, dominant intermediate G, 617882 HMSN Charcot Marie Tooth disease, type 1F, 607734 Tags
Green List (high evidence)	NEK1 Motor Neurone Disease v1.27	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892 Tags
Green List (high evidence)	NEMF Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099 Intellectual disability neuropathy Tags
Green List (high evidence)	NFU1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711) Spastic paraplegia 93, autosomal recessive, MIM# 620938 Tags
Green List (high evidence)	NGF Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 MONDO:0012092 Tags
Green List (high evidence)	NGLY1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273) Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy Tags
Green List (high evidence)	NHLRC1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780 Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green List (high evidence)	NIID STR Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green List (high evidence)	NIID STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green List (high evidence)	NIPA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 6 Tags
Green List (high evidence)	NIPA1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 6, autosomal dominant, MIM# 600363 MONDO:0010878 Tags
Green List (high evidence)	NIPA1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 6, autosomal dominant, MIM# 600363 Tags
Green List (high evidence)	NKX2-1 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700 Tags
Green List (high evidence)	NKX6-2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green List (high evidence)	NKX6-2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 MONDO:0033043 Tags
Green List (high evidence)	NOTCH1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOVA2 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 Tags
Green List (high evidence)	NPC1 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann-Pick disease, type C1 MONDO:0009757 ataxia Tags
Green List (high evidence)	NPC1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C1, 257220 Niemann-Pick disease types C1 and D (#257220) Tags
Green List (high evidence)	NPC2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C2, 607625 Niemann-Pick disease type C2 (#607625) Tags
Green List (high evidence)	NPHP1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4 Tags
Green List (high evidence)	NPTX1 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes cerebellar ataxia MONDO#0000437, NPTX1-related Tags
Green List (high evidence)	NT5C2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 45, autosomal recessive, MIM# 613162 MONDO:0013165 Tags
Green List (high evidence)	NTRK1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes hereditary sensory and autonomic neuropathy type 4 MONDO:0009746 Tags
Green List (high evidence)	NUBPL Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242 Tags
Green List (high evidence)	NUDT2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy Tags
Green List (high evidence)	NUS1 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epilepsy, myoclonus, ataxia and scoliosis Mental retardation, autosomal dominant 55, with seizures, 617831 Tags
Green List (high evidence)	OBSCN Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Rhabdomyolysis, MONDO:0005290, OBSCN-related Tags
Green List (high evidence)	OFD1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10 Tags
Green List (high evidence)	OPA1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Optic atrophy plus syndrome (MIM#125250) Tags
Green List (high evidence)	OPA1 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Behr syndrome, 210000 Optic atrophy plus syndrome, 125250 Optic atrophy 1, 165500 Tags
Green List (high evidence)	OPA1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 Tags
Green List (high evidence)	OPA3 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Optic atrophy 3 MONDO:0008133 Tags
Green List (high evidence)	OPA3 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Optic atrophy 3 MONDO:0008133 Tags
Green List (high evidence)	OPA3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type III, MIM# 258501 Tags
Green List (high evidence)	OPA3 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria, type III, MIM# 258501 Tags
Green List (high evidence)	OPA3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria type III, 258501 Costeff syndrome Tags
Green List (high evidence)	OPDM1 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Oculopharyngodistal myopathy 1 MIM#164310 Tags
Green List (high evidence)	OPDM2 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Oculopharyngodistal myopathy 2 MIM#618940 Tags
Green List (high evidence)	OPDM4_RILPL1_CGG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green List (high evidence)	OPDM_ABCD3_GCC STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green List (high evidence)	OPHN1 Ataxia - paediatric v1.30	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green List (high evidence)	OPTN Motor Neurone Disease v1.27	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435) Tags
Green List (high evidence)	ORAI1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, tubular aggregate, 2 (MIM#615883) Tags
Green List (high evidence)	ORAI1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Green List (high evidence)	PABPN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes oculopharyngeal muscular dystrophy MONDO:0008116 Tags
Green List (high evidence)	PAX7 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Expert list Phenotypes Congenital myopathy 19 (MIM#618578) Tags
Green List (high evidence)	PCYT2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green List (high evidence)	PCYT2 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Spastic paraplegia 82, autosomal recessive, MIM# 618770 global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green List (high evidence)	PDHA1 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170 Tags
Green List (high evidence)	PDK3 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905 HMSN Tags
Green List (high evidence)	PDXK Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Axonal polyneuropathy optic atrophy Tags
Green List (high evidence)	PDYN Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 23 Spinocerebellar ataxia 23, 610245 Tags
Green List (high evidence)	PDYN Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 23 (MIM#610245) Cerebellar ataxia, sensory-motor axonal neuropathy Spinocerebellar ataxia 23 Tags
Green List (high evidence)	PEX10 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Tags
Green List (high evidence)	PEX12 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 HMSN Tags
Green List (high evidence)	PEX16 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Peroxisome biogenesis disorder 8A, 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green List (high evidence)	PEX7 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Tags
Green List (high evidence)	PEX7 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Refsum disease Peroxisome biogenesis disorder 9B, MIM#614879 Tags
Green List (high evidence)	PFKM Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VII, MIM# 232800 Tags
Green List (high evidence)	PFN1 Motor Neurone Disease v1.27	3 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PGAM2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease X, MIM# 261670 Tags
Green List (high evidence)	PGK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency 300653 MONDO:0010392 Tags
Green List (high evidence)	PGM1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 Tags treatable
Green List (high evidence)	PHKA1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscle glycogenosis, MIM# 300559 Tags
Green List (high evidence)	PHYH Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Refsum Disease MIM#266500 Tags
Green List (high evidence)	PHYH Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Refsum disease, MIM# 266500 Tags
Green List (high evidence)	PI4KA Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Spastic paraplegia 84, autosomal recessive, MIM# 619621 Tags
Green List (high evidence)	PIGS Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 95, OMIM # 618143 Tags
Green List (high evidence)	PITRM1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green List (high evidence)	PLA2G16 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green List (high evidence)	PLA2G6 Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile neuroaxonal dystrophy 1 (MIM#256600) Neurodegeneration with brain iron accumulation 2B (MIM#610217) Tags
Green List (high evidence)	PLA2G6 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Autosomal recessive Parkinson disease 14, 612953 Parkinson disease 14 (#612953) Infantile neuroaxonal dystrophy 1 (#256600) Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B (#610217) Neurodegeneration with brain iron accumulation 2B, 610217 Tags
Green List (high evidence)	PLEC Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Tags
Green List (high evidence)	PLEC Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes epidermolysis bullosa congenital myasthenic syndrome Tags
Green List (high evidence)	PLEC Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Tags
Green List (high evidence)	PLEKHG5 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376 Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Tags
Green List (high evidence)	PLP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 2, X-linked recessive, 312920 Tags
Green List (high evidence)	PLP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 2, X-linked, MIM# 312920 Tags
Green List (high evidence)	PMM2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy Tags
Green List (high evidence)	PMP22 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, type 1A, 118220 Roussy Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393 Neuropathy, recurrent, with pressure palsies, 162500 Charcot Marie Tooth disease, type 1E, 118300 Dejerine Sottas disease, 145900 HMSN Tags SV/CNV
Green List (high evidence)	PMPCA Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green List (high evidence)	PMPCB Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 Tags
Green List (high evidence)	PNKD Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 Tags
Green List (high evidence)	PNKP Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Microcephaly, seizures and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Ataxia with oculomotor apraxia 4 (#616267) Tags
Green List (high evidence)	PNKP Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589) Ataxia-oculomotor apraxia 4 (MIM#616267) Tags
Green List (high evidence)	PNPLA2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags
Green List (high evidence)	PNPLA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neutral lipid storage disease with myopathy 610717 Tags
Green List (high evidence)	PNPLA6 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 39, autosomal recessive, 612020 Tags
Green List (high evidence)	PNPLA6 Ataxia - adult onset v1.18	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients Boucher-Neuhauser syndrome, 215470 Sapstic paraplegia 39, 612020 Oliver-McFarlane syndrome (#603197) Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Oliver-McFarlane syndrome, 275400 Tags
Green List (high evidence)	PNPLA6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Laurence-Moon Syndrome (LMS) MIM#245800 Spastic Paraplegia Type 39 MIM#612020 Tags
Green List (high evidence)	PNPLA6 Ataxia - paediatric v1.30	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Boucher-Neuhauser syndrome MIM#215470 Laurence-Moon syndrome MIM#245800 Oliver-McFarlane syndrome MIM#275400 Spastic paraplegia 39, autosomal recessive MIM#612020 Tags
Green List (high evidence)	PNPLA8 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green List (high evidence)	POGLUT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232) Tags
Green List (high evidence)	POLG Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Progressive external ophthalmoplegia, autosomal dominant 1 157640 Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Progressive external ophthalmoplegia, autosomal recessive 1 258450 Tags
Green List (high evidence)	POLG Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459 Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450 Tags
Green List (high evidence)	POLG Gastrointestinal neuromuscular disease v1.24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Tags
Green List (high evidence)	POLG Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green List (high evidence)	POLG Ataxia - adult onset v1.18	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Mitochondrial recessive ataxia syndrome, 607459 Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 autosomal recessive progressive external opthalmoplegia, 258450 autosomal dominant progressive external ophthalmoplegia, 157640 Tags
Green List (high evidence)	POLG2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Tags
Green List (high evidence)	POLR3A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia Tags deep intronic
Green List (high evidence)	POLR3A Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Autosomal Recessive Ataxia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 Tags
Green List (high evidence)	POLR3B Hereditary Neuropathy - complex v1.19	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742 Tags
Green List (high evidence)	POLR3B Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381 Tags
Green List (high evidence)	POMGNT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Tags
Green List (high evidence)	POMGNT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMGNT2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMGNT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Tags
Green List (high evidence)	POMK Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094 Tags
Green List (high evidence)	POMT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	POMT2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	POPDC3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848 Tags
Green List (high evidence)	POU4F1 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ataxia intention tremor hypotonia Tags
Green List (high evidence)	PPOX Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Porphyria variegata, MIM# 176200 Variegate porphyria, childhood-onset, MIM# 620483 Tags
Green List (high evidence)	PRDM12 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488 MONDO:0014662 HSAN/SFN Tags
Green List (high evidence)	PRDX3 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia (early onset, mild to moderate, progressive) Tags
Green List (high evidence)	PRDX3 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia (early onset, mild to moderate, progressive) Tags
Green List (high evidence)	PRKAG2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolff-Parkinson-White syndrome 194200 Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Tags
Green List (high evidence)	PRKCG Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 14 MIM#605361 Tags
Green List (high evidence)	PRNP Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple allelic disorders reported Huntington disease-like 1 Autosomal Dominant Ataxia Gerstmann-Straussler disease Insomnia, fatal familial Creutzfeldt-Jakob disease Tags
Green List (high evidence)	PRNP Hereditary Neuropathy - complex v1.19	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Prion diseases peripheral neuropathy chronic diarrhea dementia Tags
Green List (high evidence)	PRPS1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070 HMSN Tags
Green List (high evidence)	PRRT2 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS episodic kinesigenic dyskinesia dystonia and occasionally hemiplegic migraine and epilepsy episodic kinesigenic dyskinesia, 128200 EPISODIC KINESIGENIC DYSKINESIA 1 SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Tags
Green List (high evidence)	PRRT2 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Episodic kinesigenic dyskinesia 1 MIM#128200 Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066 Seizures, benign familial infantile, 2 MIM#605751 Tags
Green List (high evidence)	PRX Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dejerine Sottas disease, autosomal recessive, 145900 Charcot Marie Tooth disease, type 4F, 614895 HMSN Tags
Green List (high evidence)	PSEN1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822 Tags
Green List (high evidence)	PTRH2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 Tags
Green List (high evidence)	PTRH2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263) Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy Tags
Green List (high evidence)	PUM1 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 47, 617931 Tags
Green List (high evidence)	PUS1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 Tags
Green List (high evidence)	PYGM Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green List (high evidence)	PYROXD1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags
Green List (high evidence)	PYROXD1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myofibrillar myopathy 8 MONDO:0014993 Tags
Green List (high evidence)	RAB3GAP2 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Martsolf syndrome 212720 Tags
Green List (high evidence)	RAB7A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2B, MIM# 600882 MONDO:0010949 Tags
Green List (high evidence)	RAD21 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities Tags
Green List (high evidence)	RAPSN Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 acute respiratory crises late and early onset Tags founder SV/CNV
Green List (high evidence)	RBCK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green List (high evidence)	REEP1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011 Neuronopathy, distal hereditary motor, type VB MIM#614751 Spastic paraplegia 31, autosomal dominant MIM#610250 Tags
Green List (high evidence)	REEP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 31, autosomal dominant, MIM# 610250 Tags
Green List (high evidence)	REEP1 Motor Neurone Disease v1.27	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 31, autosomal dominant MIM#610250 Tags
Green List (high evidence)	REEP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 MONDO:0012453 Tags
Green List (high evidence)	REEP2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 72, dominant and recessive, MIM# 615625 MONDO:0014282 Tags
Green List (high evidence)	RET Gastrointestinal neuromuscular disease v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Multiple endocrine neoplasia IIA, MIM# 171400 Multiple endocrine neoplasia IIB, MIM# 162300 Tags
Green List (high evidence)	RETREG1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 HSAN/SFN Tags
Green List (high evidence)	RFC1 Hereditary Neuropathy - complex v1.19	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Tags STR
Green List (high evidence)	RFC1 Ataxia - adult onset v1.18	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green List (high evidence)	RFC4 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 Tags
Green List (high evidence)	RINT1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary spastic paraplegia, MONDO:0019064, RINT1-related Tags
Green List (high evidence)	RMND1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Combined oxidative phosphorylation defect type 11 MONDO:0013969 Tags
Green List (high evidence)	RNASEH2B Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi Goutieres syndrome 2, MIM# 610181 Tags
Green List (high evidence)	RNF170 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 85, autosomal recessive, MIM# 619686 Tags
Green List (high evidence)	RNF170 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Tags
Green List (high evidence)	RNF216 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green List (high evidence)	RNF216 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Green List (high evidence)	RNF220 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green List (high evidence)	RNU7-1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 9, MIM# 619487 Tags
Green List (high evidence)	RORA Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green List (high evidence)	RPGRIP1L Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 7, MIM# 611560 Tags
Green List (high evidence)	RRM2B Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Tags
Green List (high evidence)	RRM2B Gastrointestinal neuromuscular disease v1.24	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077 Tags
Green List (high evidence)	RTN2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 MONDO:0011489 Tags
Green List (high evidence)	RTN2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 MONDO:0011489 Tags
Green List (high evidence)	RTN2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 Tags
Green List (high evidence)	RUBCN Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Royal Melbourne Hospital Clinical Genetics Department Phenotypes Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Green List (high evidence)	RYR1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 King-Denborough syndrome, 145600 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Tags
Green List (high evidence)	RYR1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes calf predominant distal myopathy distal myopathy MONDO:0018949 Tags
Green List (high evidence)	RYR1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Malignant hyperthermia Tags
Green List (high evidence)	RYR1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Central core disease (MIM#117000) Minicore myopathy with external ophthalmoplegia (MIM#255320) Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) Tags
Green List (high evidence)	SACS Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Green List (high evidence)	SACS Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charlevoix-Saguenay spastic ataxia (MONDO:0010041 MIM#270550) Tags SV/CNV
Green List (high evidence)	SACS Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 MONDO:0010041 Tags SV/CNV
Green List (high evidence)	SACS Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Charlevoix-Saguenay spastic ataxia, 270550 Tags
Green List (high evidence)	SACS Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550 Tags
Green List (high evidence)	SAMD9 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes MIRAGE syndrome, MIM# 617053 Tags
Green List (high evidence)	SAMD9L Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 49, MIM# 619806 Ataxia-pancytopaenia syndrome, MIM# 159550 Tags
Green List (high evidence)	SAMHD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi Goutieres syndrome 5, MIM# 612952 Tags
Green List (high evidence)	SARS Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Genetic peripheral neuropathy MONDO#0020127, SARS1-related Tags
Green List (high evidence)	SBF1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green List (high evidence)	SBF1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green List (high evidence)	SBF2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot Marie Tooth disease, type 4B2, MIM#604563 Tags
Green List (high evidence)	SBMA STR Motor Neurone Disease v1.27	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags STR
Green List (high evidence)	SCA1 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags STR
Green List (high evidence)	SCA10 STR Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags STR
Green List (high evidence)	SCA12 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags
Green List (high evidence)	SCA17 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags STR
Green List (high evidence)	SCA2 STR Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags
Green List (high evidence)	SCA2 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags STR
Green List (high evidence)	SCA27B STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia type 27B MONDO:0012247 Spinocerebellar ataxia 50 late-onset cerebellar ataxias (LOCAs) Tags
Green List (high evidence)	SCA3 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags STR
Green List (high evidence)	SCA31 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 31 MIM#117210 Tags STR
Green List (high evidence)	SCA36 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 36 MIM#614153 Tags STR
Green List (high evidence)	SCA37 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags STR
Green List (high evidence)	SCA4_ZFHX3_GGC STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green List (high evidence)	SCA4_ZFHX3_GGC STR Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green List (high evidence)	SCA6 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags STR
Green List (high evidence)	SCA7 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags STR
Green List (high evidence)	SCA8 STR Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags STR
Green List (high evidence)	SCN10A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Episodic pain syndrome, familial, 2, 615551 Tags
Green List (high evidence)	SCN11A Gastrointestinal neuromuscular disease v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 Tags
Green List (high evidence)	SCN11A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 MONDO:0014244 Tags
Green List (high evidence)	SCN1A Ataxia - paediatric v1.30	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Tags
Green List (high evidence)	SCN2A Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Early infantile epileptic encephalopathy 11, MIM# 613721 Tags
Green List (high evidence)	SCN4A Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperkalemic Periodic Paralysis Hypokalemic periodic paralysis, type 2, 613 Thyrotoxic Periodic Paralysis, Susceptibility To, 2 Hypokalemic Periodic Paralysis Episodic weakness Myotonia Potassium-Aggravated Myotonia Hyperkalemic periodic paralysis, type 2, 170500 Myasthenic syndrome, acetazolamide-responsive, 614198 Tags
Green List (high evidence)	SCN4A Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 16, 614198 Tags
Green List (high evidence)	SCN4A Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Hypokalemic periodic paralysis, type 2, 613345 Myasthenic syndrome, congenital, 16, 614198 Hyperkalemic periodic paralysis, type 2, 170500 Tags
Green List (high evidence)	SCN8A Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy 13, 614558 Cognitive impairment with or without cerebellar ataxia, 614306 Tags
Green List (high evidence)	SCN9A Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Erythermalgia, primary, MIM# 133020 Insensitivity to pain, congenital, MIM# 243000 Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000 Paroxysmal extreme pain disorder, MIM# 167400 Small fiber neuropathy,MIM# 133020 Tags
Green List (high evidence)	SCO2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 Tags
Green List (high evidence)	SCO2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850 Tags
Green List (high evidence)	SCYL1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719) acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744) Spinocerebellar ataxia, autosomal recessive 21 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green List (high evidence)	SCYL1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 21, 616719 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green List (high evidence)	SELENON Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, rigid spine, 1 (MIM#602771) Tags
Green List (high evidence)	SEPT9 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyotrophy, hereditary neuralgic, MIM# 162100 HMSN Tags 5'UTR founder new gene name SV/CNV
Green List (high evidence)	SERAC1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green List (high evidence)	SETX Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Amyotrophic lateral sclerosis 4, juvenile MIM# 602433 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Tags
Green List (high evidence)	SETX Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433) Tags
Green List (high evidence)	SETX Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002 Tags
Green List (high evidence)	SETX Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal recessive spinocerebellar ataxia type 1, 606002 ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia Ataxia-ocular apraxia-2 Tags
Green List (high evidence)	SGCA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Tags
Green List (high evidence)	SGCA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, type 2D, 608099 autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Tags
Green List (high evidence)	SGCB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2E, 604286 Tags
Green List (high evidence)	SGCD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 Tags
Green List (high evidence)	SGCG Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2C, 253700 Tags
Green List (high evidence)	SH3TC2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Charcot Marie Tooth disease, type 4C, 601596 Mononeuropathy of the median nerve, mild, 613353 Tags
Green List (high evidence)	SHMT2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green List (high evidence)	SIGMAR1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes ?Distal spinal muscular atrophy, autosomal recessive 2 dHMN/dSMA Distal hereditary motor neuropathy of Jerash type (HMNJ) Tags
Green List (high evidence)	SIGMAR1 Motor Neurone Disease v1.27	3 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SIL1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green List (high evidence)	SIL1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Marinesco-Sjogren syndrome (MIM#248800) Tags
Green List (high evidence)	SIL1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green List (high evidence)	SLC12A6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Andermann syndrome Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 Tags
Green List (high evidence)	SLC12A6 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068) Tags
Green List (high evidence)	SLC13A3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green List (high evidence)	SLC16A2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Allan-Herndon-Dudley syndrome, 300523, XL Tags
Green List (high evidence)	SLC17A5 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Salla disease Sialic acid storage disease, severe infantile type, MIM# 269920 Tags
Green List (high evidence)	SLC18A3 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes ophthalmopleggia and apnea Myasthenic syndrome, congenital, 21, presynaptic, 617239 Tags
Green List (high evidence)	SLC1A3 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 MIM#612656 Tags
Green List (high evidence)	SLC1A3 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 Episodic ataxia type 6, 612656 Tags
Green List (high evidence)	SLC1A4 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 MONDO:0014725 Tags founder
Green List (high evidence)	SLC22A5 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Phenotypes Carnitine deficiency, systemic primary 212140 Tags treatable
Green List (high evidence)	SLC25A1 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes ?Myasthenic syndrome, congenital, 23, presynaptic 618197 Tags
Green List (high evidence)	SLC25A15 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Tags
Green List (high evidence)	SLC25A19 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 Tags
Green List (high evidence)	SLC25A20 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags
Green List (high evidence)	SLC25A32 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Exercise intolerance, riboflavin-responsive MONDO:0014795 Tags
Green List (high evidence)	SLC25A4 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Tags
Green List (high evidence)	SLC25A46 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC25A46 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary motor and sensory neuropathy type VIB, MIM#616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC2A1 Ataxia - paediatric v1.30	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes dystonia 9 GLUT1 deficiency syndrome 2, 612126 GLUT1 DEFICIENCY SYNDROME 1 paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia GLUT1 deficiency syndrome 1, 606777 Dystonia 9, 601042 EPILEPSY, IDIOPATHIC GENERALIZED Tags
Green List (high evidence)	SLC2A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 Developmental delay autosomal dominant, complicated hereditary spastic paraplegia (HSP) paroxysmal choreoathetosis spastic paraplegia seizure Tags
Green List (high evidence)	SLC44A1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Childhood-onset neurodegeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green List (high evidence)	SLC4A10 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Tags
Green List (high evidence)	SLC52A2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707 Tags
Green List (high evidence)	SLC52A2 Motor Neurone Disease v1.27	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SLC52A2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867) Tags
Green List (high evidence)	SLC52A2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Tags
Green List (high evidence)	SLC52A3 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brown-Vialetto-Van Laere syndrome 1 (MIM#211530) dHMN Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease Tags
Green List (high evidence)	SLC52A3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Tags
Green List (high evidence)	SLC52A3 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amytrophic Lateral Sclerosis (ALS) Brown-Vialetto-van Laere syndrome 1 (MIM# 211530) Tags
Green List (high evidence)	SLC5A6 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903 Tags
Green List (high evidence)	SLC5A7 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 20, presynaptic, 617143 Hereditory motor neuropathy Tags
Green List (high evidence)	SLC5A7 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580 MONDO:0008024 Tags
Green List (high evidence)	SLC9A6 Ataxia - paediatric v1.30	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green List (high evidence)	SMCHD1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Green List (high evidence)	SMN1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy-1, MIM# 253300 Spinal muscular atrophy-2, MIM# 253550 Spinal muscular atrophy-3, MIM# 253400 Spinal muscular atrophy-4, MIM# 271150 Tags SV/CNV
Green List (high evidence)	SMN1 Motor Neurone Disease v1.27	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy-1, MIM# 253300 Tags
Green List (high evidence)	SMPX Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Literature Phenotypes Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Tags
Green List (high evidence)	SNAP25 Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes ?Myasthenic syndrome, congenital, 18, 616330 cerebellar ataxia and seizures Tags
Green List (high evidence)	SNAP29 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528) Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life Tags
Green List (high evidence)	SNAPC4 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Tags
Green List (high evidence)	SNUPN Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Tags
Green List (high evidence)	SNUPN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Tags
Green List (high evidence)	SNX14 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 20, 616354 Autosomal recessive spinocerebellar ataxia (#616354) Tags
Green List (high evidence)	SOD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Tags
Green List (high evidence)	SOD1 Motor Neurone Disease v1.27	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 1 (105400 AD, AR) Spastic tetraplegia and axial hypotonia, progressive (618598 AR) Tags treatable
Green List (high evidence)	SORD Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes isolated hereditary neuropathy Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912 Tags
Green List (high evidence)	SOX10 Gastrointestinal neuromuscular disease v1.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes PCWH syndrome, MIM# 609136 Tags
Green List (high evidence)	SOX10 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes PCWH Syndrome (MIM#609136 MONDO:0012198) Waardenburg syndrome, type 4C, 613266 Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 HMSN Tags
Green List (high evidence)	SPART Motor Neurone Disease v1.27	1 review 1 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SPART Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Troyer syndrome, MIM# 275900 SPG20 MONDO:0010156 Tags
Green List (high evidence)	SPAST Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant, 182601 Tags
Green List (high evidence)	SPAST Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant Spasticity Hereditary Neuropathies Tags
Green List (high evidence)	SPAST Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 4, autosomal dominant, MIM# 182601 Tags
Green List (high evidence)	SPAST Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Tags
Green List (high evidence)	SPEG Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Centronuclear myopathy 5, MIM# 615959 Tags
Green List (high evidence)	SPG11 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Hereditary Neuropathies axonal Charcot-Marie-Tooth disease type 2X MONDO:0014726 Tags
Green List (high evidence)	SPG11 Hereditary Spastic Paraplegia - adult onset v1.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green List (high evidence)	SPG11 Motor Neurone Disease v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099 Tags
Green List (high evidence)	SPG11 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green List (high evidence)	SPG21 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mast syndrome, 248900 Spastic Paraplegia, autosomal recessive Tags new gene name
Green List (high evidence)	SPG7 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 7, autosomal recessive, 607259 MONDO:0011803 Tags
Green List (high evidence)	SPG7 Motor Neurone Disease v1.27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7, autosomal recessive MIM#607259 Tags
Green List (high evidence)	SPG7 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Tags
Green List (high evidence)	SPG7 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia Autosomal recessive spastic paraplegia 7, 607259 Tags
Green List (high evidence)	SPR Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Green List (high evidence)	SPTAN1 Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic Paraplegia MONDO:0019064, SPTAN1-related Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 Tags
Green List (high evidence)	SPTAN1 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 Tags
Green List (high evidence)	SPTBN2 Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Spinocerebellar ataxia 5, MIM# 600224 Tags
Green List (high evidence)	SPTBN2 Ataxia - adult onset v1.18	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 5, 600224 Spinocerebellar ataxia, autosomal recessive 14, 615386 Tags
Green List (high evidence)	SPTBN4 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green List (high evidence)	SPTLC1 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes juvenile amyotrophic lateral sclerosis MONDO:0017593 Tags
Green List (high evidence)	SPTLC1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Juvenile amyotrophic lateral sclerosis-27, MIM#620285 HSAN/SFN Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400 Tags
Green List (high evidence)	SPTLC2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 MONDO:0013337 HSAN/SFN Tags
Green List (high evidence)	SQSTM1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green List (high evidence)	SRD5A3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Kahrizi syndrome, 612713 Congenital disorder of glycosylation, type Iq, 612379 Congenital disorder of glycosylation type Iq, 612379 Tags
Green List (high evidence)	SRPK3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Tags digenic
Green List (high evidence)	STAC3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Congenital myopathy 13 (MIM#255995) Tags
Green List (high evidence)	STIM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, tubular aggregate, 1 (MIM#160565) Stormorken syndrome (MIM#185070) Tags
Green List (high evidence)	STIM1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Green List (high evidence)	STUB1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green List (high evidence)	STUB1 Ataxia - adult onset v1.18	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 48, MIM#618093 Tags
Green List (high evidence)	STUB1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green List (high evidence)	SUCLA2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Green List (high evidence)	SUCLG1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes mitochondrial DNA depletion syndrome 9 MONDO:0009504 Tags
Green List (high evidence)	SUFU Ataxia - paediatric v1.30	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes congenital ocular motor apraxia (forme fruste of Joubert syndrome) Tags
Green List (high evidence)	SURF1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leigh syndrome, due to COX IV deficiency, 256000 HMSN Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV Tags
Green List (high evidence)	SVBP Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 Tags founder
Green List (high evidence)	SYNE1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743 Tags
Green List (high evidence)	SYNE1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green List (high evidence)	SYNE1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green List (high evidence)	SYNE1 Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 8 Cerebellar Ataxia Autosomal recessive spinocerebellar ataxia type 8 Tags
Green List (high evidence)	SYT2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 7, presynaptic HMSN Tags
Green List (high evidence)	SYT2 Congenital Myasthenia v1.10	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 Tags
Green List (high evidence)	TAMM41 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 Tags
Green List (high evidence)	TANGO2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Tags
Green List (high evidence)	TARDBP Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD Frontotemporal lobar degeneration, TARDBP-related (MIM#612069 MONDO: 0012790) Tags
Green List (high evidence)	TAZ Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Barth syndrome MIM#302060 Tags
Green List (high evidence)	TBC1D23 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia type 11, 617695 Tags
Green List (high evidence)	TBCE Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy 617207 Tags
Green List (high evidence)	TBCE Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Tags
Green List (high evidence)	TBK1 Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 4 (MIM#616439 MONDO:0011223) Tags
Green List (high evidence)	TCAP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2G, 601954 Tags
Green List (high evidence)	TCTN1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 13, MIM# 614173 Tags
Green List (high evidence)	TCTN2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 24, MIM# 616654 Tags
Green List (high evidence)	TCTN3 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 18, MIM# 614815 Orofaciodigital syndrome IV, MIM# 258860 Tags
Green List (high evidence)	TDP2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia, autosomal recessive 23 Tags
Green List (high evidence)	TECPR2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Autonomic-sensory neuropathy Tags
Green List (high evidence)	TECPR2 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 49, autosomal recessive HSAN/SFN Tags
Green List (high evidence)	TFG Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 57, autosomal recessive, MIM# 615658 Tags
Green List (high evidence)	TFG Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 Tags
Green List (high evidence)	THG1L Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia with developmental delay Tags
Green List (high evidence)	TINF2 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal dominant dyskeratosis congenita 3, 613990 Revesz syndrome, 268130 Tags
Green List (high evidence)	TK2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green List (high evidence)	TMEM106B Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating leukodystrophy 16, 617964 Tags
Green List (high evidence)	TMEM126B Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 Tags
Green List (high evidence)	TMEM216 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 2, MIM# 608091 Tags
Green List (high evidence)	TMEM237 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green List (high evidence)	TMEM240 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 21, MIM# 607454 Tags
Green List (high evidence)	TMEM240 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green List (high evidence)	TMEM5 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Tags
Green List (high evidence)	TMEM63C Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 87, autosomal recessive, MIM# 619966 Tags
Green List (high evidence)	TMEM67 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 6, MIM# 610688 Tags
Green List (high evidence)	TNNT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 5 MONDO:0011539 Nemaline myopathy MONDO:0018958 Tags
Green List (high evidence)	TNNT3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy MONDO:0018958 Tags
Green List (high evidence)	TNPO3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green List (high evidence)	TOR1AIP1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Progeroid appearance Cataracts Microcephaly Deafness Contractures Tags
Green List (high evidence)	TPM2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Nemaline myopathy 4, autosomal dominant (MIM#609285) Tags
Green List (high evidence)	TPM3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Congenital myopathy 4A, autosomal dominant (MIM#255310) Congenital myopathy 4B, autosomal recessive (MIM#609284) Tags
Green List (high evidence)	TPP1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270 Neuronal ceroid lipofuscinosis, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500 Tags
Green List (high evidence)	TRAPPC11 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356) Tags
Green List (high evidence)	TRAPPC11 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green List (high evidence)	TRDN Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Tags
Green List (high evidence)	TRIM2 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2R, MIM# 615490 MONDO:0014208 HMSN Tags
Green List (high evidence)	TRIM32 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Green List (high evidence)	TRIP4 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066) Tags
Green List (high evidence)	TRIP4 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Green List (high evidence)	TRPV4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Hereditary motor and sensory neuropathy, type IIc, MIM# 606071 Neuronopathy, distal hereditary motor, type VIII, MIM# 600175 Tags
Green List (high evidence)	TSFM Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Combined oxidative phosphorylation deficiency 3 Tags
Green List (high evidence)	TSFM Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green List (high evidence)	TSPOAP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, intellectual disability and cerebellar atrophy Tags
Green List (high evidence)	TTBK2 Ataxia - adult onset v1.18	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 11, 604432 Spinocerebellar ataxia 11 Tags
Green List (high evidence)	TTC19 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green List (high evidence)	TTI1 Ataxia - paediatric v1.30	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green List (high evidence)	TTN Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Phenotypes TTN-related myopathy MONDO:0100175 Tags digenic
Green List (high evidence)	TTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes dilated cardiomyopathy Distal myopathy HMERF Myofibrillar myopathy Congenital myopathy Muscular dystrophy, limb-girdle, type 2J, 608807 arthrogryposis Tags
Green List (high evidence)	TTPA Ataxia - adult onset v1.18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Ataxia with isolated vitamin E deficiency, 277460 Tags
Green List (high evidence)	TTPA Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia with vitamin E deficiency Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa Tags
Green List (high evidence)	TTPA Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Ataxia with isolated vitamin E deficiency, MIM# 277460 Tags
Green List (high evidence)	TTR Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210 Cardiomyopathy Amyloidogenic transthyretin amyloidosis HSAN/SFN Tags
Green List (high evidence)	TUBA4A Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 Tags
Green List (high evidence)	TUBA4A Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBA4A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBA4A Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBA4A Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green List (high evidence)	TUBB3 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fibrosis of extraocular muscles, congenital, 3A (MIM#600638) Neuropathy Tags
Green List (high evidence)	TUBB4A Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 Dystonia 4, torsion, autosomal dominant, 128101 Tags
Green List (high evidence)	TUBB4A Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 6, MIM# 612438 Tags
Green List (high evidence)	TWNK Hereditary Neuropathy - complex v1.19	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome (MIM#616138) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286 Tags
Green List (high evidence)	TWNK Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green List (high evidence)	TWNK Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 7, 271245 Ataxia Neuropathy Spectrum Disorders, Dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Spinocerebellar Ataxia, Recessive Tags
Green List (high evidence)	TYMP Gastrointestinal neuromuscular disease v1.24	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy Tags
Green List (high evidence)	TYMP Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) HMSN Tags
Green List (high evidence)	UBA1 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dHMN/dSMA Spinal muscular atrophy, X-linked 2, MIM# 301830 Tags
Green List (high evidence)	UBAP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Childhood-onset hereditary spastic paraplegia Spastic paraplegia 80, autosomal dominant 618418 Tags
Green List (high evidence)	UBAP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Spastic paraplegia 80, autosomal dominant 618418 Tags
Green List (high evidence)	UBQLN2 Motor Neurone Disease v1.27	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis type 15 (MONDO:0010459 MIM#300857) Tags
Green List (high evidence)	UBTF Ataxia - paediatric v1.30	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green List (high evidence)	UCHL1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 79A, autosomal dominant, MIM# 620221 Spastic paraplegia 79, autosomal recessive, 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green List (high evidence)	UCHL1 Ataxia - paediatric v1.30	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 79, autosomal recessive, MIM#615491 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green List (high evidence)	UCHL1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green List (high evidence)	UNC45B Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Tags
Green List (high evidence)	UNC45B Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Myofibrillar myopathy 11 (MIM#619178) Tags
Green List (high evidence)	VAMP1 Congenital Myasthenia v1.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes presynaptic CMS Myasthenic syndrome, congenital, 25, MIM# 618323 Tags
Green List (high evidence)	VAPB Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Adult proximal spinal muscular atrophy, autosomal dominant dHMN/dSMA Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Tags
Green List (high evidence)	VAPB Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980) Amyotrophic lateral sclerosis 8 Tags founder
Green List (high evidence)	VCP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green List (high evidence)	VCP Motor Neurone Disease v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954) Tags
Green List (high evidence)	VCP Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 Tags
Green List (high evidence)	VLDLR Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Green List (high evidence)	VMA21 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags deep intronic
Green List (high evidence)	VPS13A Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes chorea-acanthocytosis MONDO:0008695 Tags
Green List (high evidence)	VPS13D Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green List (high evidence)	VPS13D Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Green List (high evidence)	VPS41 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green List (high evidence)	VRK1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Tags
Green List (high evidence)	VWA1 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary motor neuropathy Tags
Green List (high evidence)	WARS2 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Tags
Green List (high evidence)	WASHC5 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 MONDO:0011339 Tags
Green List (high evidence)	WDR45B Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM#617977 Tags
Green List (high evidence)	WDR73 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature Galloway-Mowat Syndrome 1, 251300 Tags
Green List (high evidence)	WDR81 Ataxia - paediatric v1.30	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Expert list Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Congenital hydrocephalus 3 with brain anomalies, 617967 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185 Tags
Green List (high evidence)	WFS1 Ataxia - paediatric v1.30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolfram syndrome 1, 222300 Tags
Green List (high evidence)	WNK1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HSAN/SFN Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300 MONDO:0024309 Tags
Green List (high evidence)	WWOX Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232 Early infantile epileptic encephalopathy 28, 616211 Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Green List (high evidence)	XK Hereditary Neuropathy - complex v1.19	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Tags
Green List (high evidence)	XRCC1 Ataxia - adult onset v1.18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia Autosomal recessive spinocerebellar ataxia 26, 617633 Tags
Green List (high evidence)	XRCC1 Ataxia - paediatric v1.30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags founder
Green List (high evidence)	XRCC1 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags
Green List (high evidence)	YARS Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323 MONDO:0012012 Tags
Green List (high evidence)	YARS2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Tags
Green List (high evidence)	ZFYVE26 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 MONDO:0010044 Tags
Green List (high evidence)	ZFYVE26 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Tags
Green List (high evidence)	ZFYVE26 Hereditary Neuropathy - complex v1.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15 MIM#270700 Tags
Amber List (moderate evidence)	AAAS Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550 complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	ACADVL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert list Phenotypes VLCAD deficiency 201475 Tags
Amber List (moderate evidence)	ACBD5 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Amber List (moderate evidence)	ALG14 Congenital Myasthenia v1.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Tags
Amber List (moderate evidence)	ALG14 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Amber List (moderate evidence)	ALG2 Congenital Myasthenia v1.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 Tags founder
Amber List (moderate evidence)	ALK Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spastic-dystonic diplegia Tags
Amber List (moderate evidence)	ANG Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753 MIM#611895) Tags
Amber List (moderate evidence)	ANXA11 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags
Amber List (moderate evidence)	AP5Z1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 Tags
Amber List (moderate evidence)	ARHGEF10 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Slowed nerve conduction velocity, AD, 608236 HMSN Tags
Amber List (moderate evidence)	ARPC3 Hereditary Neuropathy_CMT - isolated v1.51	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease MONDO:0015626 Tags
Amber List (moderate evidence)	ASPH Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Exertional heat illness malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Tags
Amber List (moderate evidence)	ATG5 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Spinocerebellar ataxia, autosomal recessive 25 Tags
Amber List (moderate evidence)	ATM Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Ataxia-telangiectasia, MIM#208900 Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein Ataxia-telangiectasia syndrome Tags
Amber List (moderate evidence)	ATP2B3 Ataxia - paediatric v1.30	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert list Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia, X-linked 1 Tags
Amber List (moderate evidence)	ATP2B4 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pure and complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	B3GNT2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy Tags
Amber List (moderate evidence)	B4GALNT1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 26, autosomal recessive (MIM#609195 MONDO:0012213) Tags
Amber List (moderate evidence)	BAG3 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Myopathy, myofibrillar, 6 (MIM#612954 MONDO:0013061) Tags
Amber List (moderate evidence)	BET1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Tags
Amber List (moderate evidence)	BICD2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Tags
Amber List (moderate evidence)	C1orf194 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Charcot-Marie-Tooth disease, intermediate or demyelinating Tags
Amber List (moderate evidence)	CANVAS_ACAGG STR Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags
Amber List (moderate evidence)	CANVAS_ACAGG STR Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags
Amber List (moderate evidence)	CAPN3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1 253600 Tags
Amber List (moderate evidence)	CASQ1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert list Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Amber List (moderate evidence)	CCDC78 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Centronuclear Myopathy (MIM#614807 MONDO: 0018947) Tags
Amber List (moderate evidence)	CCDC88C Ataxia - adult onset v1.18	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes autosomal dominant spinocerebellar ataxia ?Spinocerebellar ataxia 40, 616053 Tags
Amber List (moderate evidence)	CCDC88C Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Early-onset pure hereditary spastic paraplegia Tags
Amber List (moderate evidence)	CCNF Motor Neurone Disease v1.27	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber List (moderate evidence)	CCT5 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HMSN Tags
Amber List (moderate evidence)	CHKB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 CHKB-Related Muscular Dystrophy Tags
Amber List (moderate evidence)	CHKB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 recurrent rhabdomyolysis CHKB-Related Muscular Dystrophy Tags
Amber List (moderate evidence)	CHMP3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Tags
Amber List (moderate evidence)	CHP1 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM #618438 Tags
Amber List (moderate evidence)	CHP1 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM #618438 Tags
Amber List (moderate evidence)	CHRNA1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital myopathy MONDO:0019952 Tags
Amber List (moderate evidence)	CNTN1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929 MIM#612540) Tags
Amber List (moderate evidence)	COL4A1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773 Brain small vessel disease with or without ocular anomalies MIM#175780 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Tags
Amber List (moderate evidence)	COL9A2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epiphyseal dysplasia, multiple, 2 MIM#600204 Tags
Amber List (moderate evidence)	COL9A3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969 Tags
Amber List (moderate evidence)	COMP Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epiphyseal dysplasia, multiple, 1 MIM#132400 Tags
Amber List (moderate evidence)	COX10 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) Tags
Amber List (moderate evidence)	CRYAB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Expert list Expert Review Phenotypes Myopathy, myofibrillar, 2, MIM# 608810 Tags
Amber List (moderate evidence)	CYLD Motor Neurone Disease v1.27	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Amber List (moderate evidence)	DCAF8 Hereditary Neuropathy - complex v1.19	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 HMSN Tags
Amber List (moderate evidence)	DDHD1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy Tags
Amber List (moderate evidence)	DGAT2 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Amber Expert Review Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related Tags
Amber List (moderate evidence)	DHTKD1 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN Charcot Marie Tooth disease, axonal, type 2Q, 615025 2 aminoadipic 2 oxoadipic aciduria, 204750 Tags
Amber List (moderate evidence)	DNAJC7 Motor Neurone Disease v1.27	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	DNMT3B Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber List (moderate evidence)	DPM2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, MIM# 615042 Tags
Amber List (moderate evidence)	DSTYK Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 23, MIM#270750 Tags founder SV/CNV
Amber List (moderate evidence)	EMILIN1 Hereditary Neuropathy - complex v1.19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, type X, MIM# 620080 Peripheral neuropathy aortic aneurysm Tags
Amber List (moderate evidence)	ERBB4 Motor Neurone Disease v1.27	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 19 MIM#615515 Tags
Amber List (moderate evidence)	ETFB Rhabdomyolysis and Metabolic Myopathy v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Glutaric acidemia IIB 231680 Tags
Amber List (moderate evidence)	ETFDH Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Phenotypes Glutaric acidemia IIC 231680 Tags
Amber List (moderate evidence)	EXOSC3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 1b Complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	EXOSC3 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia, type 1b dHMN/dSMA Tags
Amber List (moderate evidence)	FAM126A Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes HMSN Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Leukodystrophy, hypomyelinating, 5, 610532 Tags
Amber List (moderate evidence)	FBXO38 Hereditary Neuropathy_CMT - isolated v1.51	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 dHMN/dSMA Tags
Amber List (moderate evidence)	FDX2 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900) Tags
Amber List (moderate evidence)	FDXR Ataxia - adult onset v1.18	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, 617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Amber List (moderate evidence)	FIG4 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945 MIM#612577) Tags
Amber List (moderate evidence)	GALC Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Krabbe Disease MIM#245200 Tags
Amber List (moderate evidence)	GJC2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 2, 608804, AR Spastic paraplegia 44, autosomal recessive 613206, AR Tags
Amber List (moderate evidence)	GJC2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 44, autosomal recessive, MIM# 613206 Tags
Amber List (moderate evidence)	GLT8D1 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	HADHB Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 Tags treatable
Amber List (moderate evidence)	HARS Ataxia - paediatric v1.30	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome Tags
Amber List (moderate evidence)	HNRNPA2B1 Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber List (moderate evidence)	HRAS Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Expert Review Amber Phenotypes Congenital myopathy with excess of muscle spindles (MIM#218040) Tags
Amber List (moderate evidence)	HSPD1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Amber List (moderate evidence)	IRF2BPL Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 Tags
Amber List (moderate evidence)	KARS Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641 MONDO:0013338) Tags
Amber List (moderate evidence)	KCNQ2 Ataxia - paediatric v1.30	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 7, 613720 Myokymia, 121200 Tags
Amber List (moderate evidence)	KLHL9 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal myopathy MONDO:0018949 Tags
Amber List (moderate evidence)	LAMP2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes Danon disease (MIM#300257) Tags
Amber List (moderate evidence)	LGALSL Motor Neurone Disease v1.27	1 review	Unknown	Sources Expert Review Amber ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber List (moderate evidence)	LMNA Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 Tags
Amber List (moderate evidence)	LMOD1 Gastrointestinal neuromuscular disease v1.24	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362 Tags
Amber List (moderate evidence)	LPIN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Tags
Amber List (moderate evidence)	LRIF1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber List (moderate evidence)	LYST Hereditary Spastic Paraplegia - adult onset v1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes spastic paraplegia Spastic paraplegia Chediak-Higashi syndrome, 214500 Tags
Amber List (moderate evidence)	MAMDC2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber List (moderate evidence)	MAMDC2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber List (moderate evidence)	MAPK8IP3 Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Tags
Amber List (moderate evidence)	MARS Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 70, autosomal recessive, MIM# 620323 Tags
Amber List (moderate evidence)	MFF Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 Tags
Amber List (moderate evidence)	MKKS Ataxia - paediatric v1.30	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6, 605231 Tags
Amber List (moderate evidence)	MTCL1 Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes spinocerebellar ataxia Tags
Amber List (moderate evidence)	MTMR14 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Expert Review Amber Expert list Phenotypes {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Tags
Amber List (moderate evidence)	MTPAP Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672 Tags
Amber List (moderate evidence)	MYL1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other NHS GMS Phenotypes Congenital Myopathy 14 (MIM#618414) Tags
Amber List (moderate evidence)	MYLK Gastrointestinal neuromuscular disease v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210 Tags
Amber List (moderate evidence)	MYO9A Congenital Myasthenia v1.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Congenital myasthenic syndrome 24, presynaptic 618198 Tags
Amber List (moderate evidence)	MYO9B Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related Tags
Amber List (moderate evidence)	NAGLU Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 HSAN/SFN Tags
Amber List (moderate evidence)	NRG1 Gastrointestinal neuromuscular disease v1.24	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Hirschsprung disease Tags
Amber List (moderate evidence)	PACSIN3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, MONDO:0005336, PACSIN3-related Tags
Amber List (moderate evidence)	PACSIN3 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, MONDO:0005336, PACSIN3-related Tags
Amber List (moderate evidence)	PCK2 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peripheral neuropathy (MONDO#0005244), PCK2-related Tags
Amber List (moderate evidence)	PDCL3 Gastrointestinal neuromuscular disease v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes megacystis-microcolon Tags
Amber List (moderate evidence)	PFKM Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Glycogen storage disease VII (MIM#232800) Tags
Amber List (moderate evidence)	PLD3 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes ?Spinocerebellar ataxia 46 Tags
Amber List (moderate evidence)	PLP1 Hereditary Neuropathy - complex v1.19	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pelizaeus-Merzbacher disease (MIM#312080) Tags
Amber List (moderate evidence)	PMP2 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes HMSN Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 Tags
Amber List (moderate evidence)	PNPLA6 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 39, autosomal recessive, MIM# 612020 Tags
Amber List (moderate evidence)	PNPT1 Ataxia - adult onset v1.18	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703 Tags
Amber List (moderate evidence)	POGLUT1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, MONDO:0020121, POGLUT1-related Tags
Amber List (moderate evidence)	POMK Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 Tags
Amber List (moderate evidence)	PREPL Congenital Myasthenia v1.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency ?Myasthenic syndrome, congenital, 22, 616224 Tags
Amber List (moderate evidence)	PRKCG Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Tags
Amber List (moderate evidence)	PRPH Motor Neurone Disease v1.27	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Expert list Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Tags
Amber List (moderate evidence)	PRPS1 Ataxia - adult onset v1.18	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Tags
Amber List (moderate evidence)	PSMC3 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Amber List (moderate evidence)	PYGM Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes McArdle disease (MIM#232600) Tags
Amber List (moderate evidence)	RBM7 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes SMA-like spinal motor neuropathy dHMN/dSMA Tags
Amber List (moderate evidence)	RFXANK Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Progressive Ataxia and Neurologic Regression MHC class II deficiency, complementation group B MIM#209920 Tags
Amber List (moderate evidence)	RNF13 Motor Neurone Disease v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Literature Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	SDHA Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Tags
Amber List (moderate evidence)	SEC31A Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651 congenital neurodevelopmental syndrome spastic paraplegia multiple contractures profound developmental delay epilepsy failure to thrive Tags
Amber List (moderate evidence)	SELENOI Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 81, autosomal recessive 618768 developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals Tags
Amber List (moderate evidence)	SGO1 Gastrointestinal neuromuscular disease v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Chronic atrial and intestinal dysrhythmia, MIM# 616201 Tags founder
Amber List (moderate evidence)	SGPL1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes RENI syndrome (MIM#617575) Tags
Amber List (moderate evidence)	SLC52A1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Maternal riboflavin deficiency MONDO:0014013 Tags
Amber List (moderate evidence)	SLC9A1 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Lichtenstein-Knorr Syndrome, MIM# 616291 Tags
Amber List (moderate evidence)	SOX10 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Neurocristopathy PCWH syndrome, MIM#609136 Complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	SPTSSA Hereditary Spastic Paraplegia - paediatric v1.86	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 90B, autosomal recessive , MIM# 620417 Spastic paraplegia 90A, autosomal dominant, MIM# 620416 Tags
Amber List (moderate evidence)	SQSTM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 multisystem proteinopathy Tags
Amber List (moderate evidence)	SQSTM1 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640 Tags
Amber List (moderate evidence)	SS18L1 Motor Neurone Disease v1.27	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes amyotrophic lateral sclerosis (MONDO:0004976) Tags
Amber List (moderate evidence)	SUCLA2 Hereditary Neuropathy - complex v1.19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791 MIM#612073) ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy Tags
Amber List (moderate evidence)	SVIL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10 (MIM#619040) Tags
Amber List (moderate evidence)	SYNGAP1 Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal dominant mental retardation 5, 612621 Tags
Amber List (moderate evidence)	TAF15 Motor Neurone Disease v1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	TDP1 Hereditary Neuropathy - complex v1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber List (moderate evidence)	TDP1 Ataxia - adult onset v1.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber List (moderate evidence)	TIA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal myopathy, Welander type MONDO:0011466 Tags
Amber List (moderate evidence)	TIA1 Motor Neurone Disease v1.27	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133 Tags
Amber List (moderate evidence)	TMEM138 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Joubert syndrome 16, MIM# 614465 Tags
Amber List (moderate evidence)	TMEM231 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Joubert syndrome 20, MIM# 614970 Meckel syndrome 11 615397 Tags
Amber List (moderate evidence)	TMEM43 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Tags
Amber List (moderate evidence)	TNNC2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Expert Review Green Literature Phenotypes Congenital Myopathy 15 (MIM#62016) Tags
Amber List (moderate evidence)	TNNT1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 5, Amish type MIM#605355 Tags
Amber List (moderate evidence)	TOR1AIP1 Congenital Myasthenia v1.10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Congenital myasthenic syndrome Tags
Amber List (moderate evidence)	TRPC3 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Tags
Amber List (moderate evidence)	TRPV1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Exertional heat stroke rhabdomyolysis Tags
Amber List (moderate evidence)	TUBA4A Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital myopathy MONDO:0019952 Tags
Amber List (moderate evidence)	TUBB4A Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Royal Melbourne Hospital Phenotypes ataxia Leukodystrophy, hypomyelinating, 612438 AD Dystonia 4, torsion, autosomal dominant, 128101 Tags
Amber List (moderate evidence)	UBA5 Hereditary Neuropathy_CMT - isolated v1.51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypomyelinating neuropathy Tags
Amber List (moderate evidence)	UBA5 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes ?Autosomal recessive spinocerebellar ataxia 24, 617133 Early infantile epileptic encephalopathy 44, 617132 Tags
Amber List (moderate evidence)	UBQLN4 Motor Neurone Disease v1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Amber List (moderate evidence)	UBR4 Ataxia - paediatric v1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Episodic ataxia Episodic ataxia type 8, 616055 Tags
Amber List (moderate evidence)	UNC80 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Tags
Amber List (moderate evidence)	USP8 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Complicated hereditary spastic paraplegia Tags
Amber List (moderate evidence)	VAMP1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber List (moderate evidence)	VAMP1 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber List (moderate evidence)	VAMP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Amber List (moderate evidence)	VPS37A Hereditary Spastic Paraplegia - paediatric v1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR Tags
Amber List (moderate evidence)	VRK1 Ataxia - paediatric v1.30	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pontocerebellar hypoplasia type 1A, 607596 Tags
Amber List (moderate evidence)	VRK1 Motor Neurone Disease v1.27	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia Distal hereditary motor neuropathy dHMN/dSMA Tags
Amber List (moderate evidence)	WARS Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, type IX, MIM#617721 Tags
Amber List (moderate evidence)	ZFYVE26 Ataxia - adult onset v1.18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal recessive spastic paraplegia 15, 270700 Tags
Red List (low evidence)	ACOX1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Pseudoneonatal adrenoleukodystrophy Tags
Red List (low evidence)	AIFM1 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	AMACR Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes rhabdomyolysis Tags
Red List (low evidence)	AMPD1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myopathy due to myoadenylate deaminase deficiency 615511 Rhabdomyolysis Tags disputed
Red List (low evidence)	AMPD2 Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI Tags
Red List (low evidence)	AMPD2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia 63 MIM#615686 Tags
Red List (low evidence)	AMPD2 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Expert Review Red Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, 615809 Tags
Red List (low evidence)	ARL6 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 3, 600151 Tags
Red List (low evidence)	ARMC9 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Royal Melbourne Hospital Phenotypes Joubert syndrome 30, MIM#617622 Tags
Red List (low evidence)	ARPP21 Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Red List (low evidence)	ARSI Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Childhood onset spastic paraplegia Tags
Red List (low evidence)	ASAH1 Motor Neurone Disease v1.27	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Red List (low evidence)	ATP1A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Phenotypes Hereditary spastic paraplegia Tags
Red List (low evidence)	ATP1A2 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Alternating hemiplegia of childhood 1, 104290 Familial hemiplegic migraine 2, 602481 Tags
Red List (low evidence)	ATP1A2 Skeletal Muscle Channelopathies v1.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Red Royal Melbourne Hospital Phenotypes Hypokalaemic periodic paralysis Tags
Red List (low evidence)	ATP7A Motor Neurone Disease v1.27	3 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489 Tags
Red List (low evidence)	ATP7B Ataxia - adult onset v1.18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Wilson disease 277900 Wilson disease, 277900 Tags
Red List (low evidence)	BANF1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related Tags
Red List (low evidence)	BBS10 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, 615987 Tags
Red List (low evidence)	BBS12 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, 615989 Tags
Red List (low evidence)	BBS2 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, 615981 Tags
Red List (low evidence)	BBS4 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, 615982 Tags
Red List (low evidence)	BBS5 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, 615983 Tags
Red List (low evidence)	BBS7 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, 615984 Tags
Red List (low evidence)	BBS9 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, 615986 Tags
Red List (low evidence)	BICD2 Motor Neurone Disease v1.27	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 Tags
Red List (low evidence)	CACNB1 Skeletal Muscle Channelopathies v1.1	2 reviews 1 red	Not set	Sources Expert Review Red Expert list Expert Review Red Royal Melbourne Hospital Phenotypes ?Malignant hyperthermia susceptibility Tags
Red List (low evidence)	CACNB4 Ataxia - adult onset v1.18	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Episodic ataxia type 5, 613855 Tags
Red List (low evidence)	CASQ1 Skeletal Muscle Channelopathies v1.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231 Tags
Red List (low evidence)	CCDC28B Ataxia - paediatric v1.30	3 reviews 2 red	Other	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red List (low evidence)	CCT5 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia Sensory Neuropathy with Spastic Paraplegia Tags
Red List (low evidence)	CHCHD10 Ataxia - adult onset v1.18	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Red List (low evidence)	CHMP1A Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Red List (low evidence)	CHRND Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	CLPP Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 3 MIM#614129 Tags
Red List (low evidence)	COL4A1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Phenotypes Recurrent rhabdomyolysis infections hypertrophic cardiomyopathy. Tags
Red List (low evidence)	COL4A2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Red Expert list Phenotypes Brain small vessel disease 2 614483 Tags
Red List (low evidence)	COQ5 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary 9, MIM#619028 Cerebellar ataxia encephalopathy generalized tonic-clonic seizures intellectual disability Tags
Red List (low evidence)	COQ7 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) Tags
Red List (low evidence)	CYP2U1 Ataxia - paediatric v1.30	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Red List (low evidence)	DAB1 Ataxia - paediatric v1.30	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert list Phenotypes epilepsy developmental delay cerebellar ataxia structural brain abnormalities oral motor difficulty Tags
Red List (low evidence)	DAO Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Amyotrophic Lateral Sclerosis Tags
Red List (low evidence)	DNM2 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Complicated hereditary spastic paraplegia Tags
Red List (low evidence)	DYNC1H1 Motor Neurone Disease v1.27	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 Tags
Red List (low evidence)	ECE1 Gastrointestinal neuromuscular disease v1.24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870 Tags
Red List (low evidence)	EEF2 Ataxia - adult onset v1.18	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia 26 Tags
Red List (low evidence)	ELOVL1 Ataxia - paediatric v1.30	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Tags
Red List (low evidence)	ERLIN1 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	EWSR1 Motor Neurone Disease v1.27	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	EXOSC3 Ataxia - paediatric v1.30	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, 614678 Tags
Red List (low evidence)	EXOSC3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	EXOSC8 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1C, MIM# 616081 Tags
Red List (low evidence)	FKTN Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Fukuyama congenital muscular dystrophy Tags
Red List (low evidence)	FOXG1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Rett syndrome Tags
Red List (low evidence)	FOXP3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	GAD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Cerebralpalsy, spasticquadriplegic,1, 603513 Tags
Red List (low evidence)	GDNF Gastrointestinal neuromuscular disease v1.24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes {Hirschsprung disease, susceptibility to, 3} MIM#613711 Tags
Red List (low evidence)	GJB3 Hereditary Neuropathy - complex v1.19	1 review 1 red	Not set	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy Tags
Red List (low evidence)	GNE Motor Neurone Disease v1.27	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis Tags
Red List (low evidence)	GRID2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes Complicated spastic paraplegia Tags
Red List (low evidence)	HARS2 Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Red List (low evidence)	HARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 2, MIM#614926 Tags
Red List (low evidence)	HSPB3 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA ?Neuronopathy, distal hereditary motor, type IIC, 613376 Tags
Red List (low evidence)	IDUA Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	IFRD1 Hereditary Neuropathy - complex v1.19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) HMSN Tags refuted
Red List (low evidence)	IFRD1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia Tags refuted
Red List (low evidence)	IFRD1 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Expert Review Red Literature Phenotypes Spinocerebellar ataxia 18 MIM#607458 Tags
Red List (low evidence)	IGHMBP2 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VI 604320 Tags
Red List (low evidence)	IQGAP3 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hereditary neuropathy Tags
Red List (low evidence)	KCNE3 Skeletal Muscle Channelopathies v1.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Periodic paralysis Tags
Red List (low evidence)	KCNJ11 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 Tags
Red List (low evidence)	KCNJ18 Skeletal Muscle Channelopathies v1.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Phenotypes Hypokalemic periodic paralysis {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 Tags
Red List (low evidence)	KCNJ5 Skeletal Muscle Channelopathies v1.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Andersen-Tawil Syndrome periodic muscle paralysis Tags
Red List (low evidence)	KIF1B Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, type 2A1, 118210 HMSN Tags
Red List (low evidence)	KLC4 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes spastic paraplegia progressive complicated spastic paraplegia Tags
Red List (low evidence)	KLHL13 Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Tags
Red List (low evidence)	LAMA5 Congenital Myasthenia v1.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Presynaptic congenital myasthenic syndrome Tags
Red List (low evidence)	LAMB2 Congenital Myasthenia v1.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Pierson syndrome, MIM# 609049 congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations Tags
Red List (low evidence)	LARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 4 MIM#615300 Tags
Red List (low evidence)	LAS1L Motor Neurone Disease v1.27	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes congenital lethal motor neuron disease Tags
Red List (low evidence)	LAS1L Hereditary Neuropathy_CMT - isolated v1.51	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Expert Review Phenotypes congenital lethal motor neuron disease Tags
Red List (low evidence)	MARS Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Tags
Red List (low evidence)	MED25 Hereditary Neuropathy_CMT - isolated v1.51	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 2B2 MIM#605589 Tags disputed
Red List (low evidence)	MIR145 Gastrointestinal neuromuscular disease v1.24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes multisystemic smooth muscle dysfunction syndrome (MONDO:0013452) Tags
Red List (low evidence)	MME Ataxia - adult onset v1.18	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia type 43, 617018 Tags
Red List (low evidence)	MMS19 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodegenerative disease, MONDO:0005559, MMS19-related Tags
Red List (low evidence)	MTPAP Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive Tags
Red List (low evidence)	MYBPC3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Amber Expert list Phenotypes Cardiomyopathy with myopathy Tags
Red List (low evidence)	MYH1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Red List (low evidence)	MYH3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes paresthesia rhabdomyolysis Tags
Red List (low evidence)	NEFH Motor Neurone Disease v1.27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Red List (low evidence)	NOL3 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myoclonus, familial cortical Tags
Red List (low evidence)	NRG1 Hereditary Neuropathy_CMT - isolated v1.51	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Expert list Phenotypes Peripheral neuropathy MONDO:0005244 Tags
Red List (low evidence)	NRG3 Gastrointestinal neuromuscular disease v1.24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Hirschsprung disease Tags
Red List (low evidence)	NRTN Gastrointestinal neuromuscular disease v1.24	1 review 1 red	Unknown	Sources Expert Review Red Expert list Phenotypes Hirschsprung disease Tags
Red List (low evidence)	OPA1 Gastrointestinal neuromuscular disease v1.24	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes gastrointestinal pseudo-obstruction Tags
Red List (low evidence)	OPA1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert list Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	PAX6 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red List (low evidence)	PCDH12 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes cerebellar ataxia, dystonia, retinopathy, and dysmorphism Tags
Red List (low evidence)	PCYT2 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Red List (low evidence)	PEX7 Hereditary Neuropathy - complex v1.19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Refsum disease Phytanic acid storage disease Tags
Red List (low evidence)	PGAP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Mental retardation, autosomal recessive 42 Tags
Red List (low evidence)	PHKB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red List (low evidence)	PIK3R5 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Ataxia-oculomotor apraxia 3, OMIM #615217 Tags
Red List (low evidence)	PLEKHG5 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Tags
Red List (low evidence)	POLG2 Gastrointestinal neuromuscular disease v1.24	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 Tags
Red List (low evidence)	PRICKLE1 Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Progressive myoclonic epilepsy 1B, 612437 Progressive Myoclonus Epilepsy with Ataxia Tags
Red List (low evidence)	RARS2 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Pontocerebellar hypoplasia, type 6, 611523 early onset cerebellar ataxia Tags
Red List (low evidence)	RPH3A Congenital Myasthenia v1.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis Tags
Red List (low evidence)	SAR1B Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Chylomicron retention disease, 246700 Tags
Red List (low evidence)	SARS2 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Progressive spastic paraplegia Tags
Red List (low evidence)	SEMA3C Gastrointestinal neuromuscular disease v1.24	1 review 1 red	Unknown	Sources Expert Review Red Expert list Phenotypes Hirschsprung disease Tags
Red List (low evidence)	SEMA3D Gastrointestinal neuromuscular disease v1.24	1 review 1 red	Unknown	Sources Expert Review Red Expert list Phenotypes Hirschsprung disease Tags
Red List (low evidence)	SEPSECS Ataxia - adult onset v1.18	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D, 613811 cerebellar ataxia and cognitive impairment Tags
Red List (low evidence)	SH3BP4 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes HMSN Tags
Red List (low evidence)	SLC19A3 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Biotin-thiamine-responsive basal ganglia disease, MIM#607483 Tags
Red List (low evidence)	SLC33A1 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 42, autosomal dominant Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD Tags
Red List (low evidence)	SLC33A1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Spastic paraplegia 42, autosomal dominant, MIM# 612539 Tags
Red List (low evidence)	SLC52A1 Motor Neurone Disease v1.27	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Riboflavin deficiency, MIM#615026 Tags
Red List (low evidence)	SNAP25 Congenital Myasthenia v1.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes ?Myasthenic syndrome, congenital, 18, 616330 Tags
Red List (low evidence)	SOX8 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red List (low evidence)	STXBP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spasticity Early infantile epileptic encephalopathy 4 Tags
Red List (low evidence)	SYT14 Ataxia - adult onset v1.18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital GeneReviews Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red List (low evidence)	TCAP Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954) Tags
Red List (low evidence)	TGM6 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 35, 613908 Spinocerebellar ataxia 35 Tags refuted
Red List (low evidence)	TMEM70 Gastrointestinal neuromuscular disease v1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 Tags
Red List (low evidence)	TPP1 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis neuronal 2, MIM#204500 Tags
Red List (low evidence)	TPR Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red List (low evidence)	TRAPPC2L Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red List (low evidence)	TRIM32 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 ?Bardet-Biedl syndrome 11, 615988 Tags
Red List (low evidence)	TRIP4 Motor Neurone Disease v1.27	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Red List (low evidence)	TRPA1 Hereditary Neuropathy_CMT - isolated v1.51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Episodic pain syndrome, familial, 1 HSAN/SFN Tags
Red List (low evidence)	TRPV4 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Tags
Red List (low evidence)	TSEN2 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B, 612389 Tags
Red List (low evidence)	TSEN34 Ataxia - paediatric v1.30	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 Tags
Red List (low evidence)	TSEN54 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 5 610204 Pontocerebellar hypoplasia type 4 225753 Pontocerebellar hypoplasia type 2A 277470 Tags
Red List (low evidence)	TSEN54 Ataxia - adult onset v1.18	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Expert list Phenotypes adult-onset cerebellar ataxia Tags
Red List (low evidence)	TSPOAP1 Hereditary Spastic Paraplegia - adult onset v1.11	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 22, MIM# 620453 Tags
Red List (low evidence)	TTC8 Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, 615985 Tags
Red List (low evidence)	TTN Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Expert list Phenotypes Congenital titinopathy exercise intolerance Tags
Red List (low evidence)	TTR Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Tags
Red List (low evidence)	TUBA1A Ataxia - paediatric v1.30	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, 611603 Tags
Red List (low evidence)	TUBB2A Ataxia - paediatric v1.30	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?progressive spastic ataxia syndrome resembling sacsinopathy Complex cortical dysplasia with other brain malformations 5, 615763 Tags
Red List (low evidence)	TYMP Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Red List (low evidence)	UBA1 Motor Neurone Disease v1.27	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Green Expert list Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Tags
Red List (low evidence)	UNC13A Congenital Myasthenia v1.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes microcephaly, cortical hyperexcitability, and fatal myasthenia dyskinesia autism developmental delay Tags
Red List (low evidence)	VWA3B Ataxia - adult onset v1.18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital GeneReviews Phenotypes ?Spinocerebellar ataxia, autosomal recessive 22 Tags
Red List (low evidence)	WDPCP Ataxia - paediatric v1.30	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Red List (low evidence)	WDR48 Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia Tags
Red List (low evidence)	ZFR Hereditary Spastic Paraplegia - paediatric v1.86	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Complicated hereditary spastic paraplegia Tags
Red List (low evidence)	ZFYVE27 Hereditary Spastic Paraplegia - adult onset v1.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia 33, autosomal dominant, MIM#610244 Tags
Red List (low evidence)	ZNF423 Ataxia - paediatric v1.30	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Nephronophthisis 14 Tags
Red List (low evidence)	ZNF592 Ataxia - paediatric v1.30	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 5 Galloway-Mowat Syndrome 1, 251300 Tags
No list	ATN1 Ataxia - adult onset v1.18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
No list	ATXN1 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags STR
No list	ATXN10 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags STR
No list	ATXN2 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags STR
No list	ATXN3 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Machado-Joseph disease MIM#109150 spindocerebellar ataxia 3 Tags STR
No list	ATXN7 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags STR
No list	ATXN8 Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags STR
No list	BEAN1 Ataxia - adult onset v1.18	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 31, 117210 autosomal dominant cerebellar ataxia type III Tags STR
No list	CAPRIN1 Ataxia - paediatric v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
No list	CAPRIN1 Hereditary Neuropathy - complex v1.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
No list	DAB1 Ataxia - adult onset v1.18	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Removed Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags STR
No list	FMR1 Ataxia - adult onset v1.18	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes FragileXtremor/ataxiasyndrome,300623 males with a tremor phenotype Fragile X tremor/ataxia syndrome FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI) Tags STR
No list	NOP56 Ataxia - adult onset v1.18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 36, 614153 Tags STR
No list	PPP2R2B Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags STR
No list	TBP Ataxia - adult onset v1.18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags STR

Neuromuscular Superpanel (Version 3.352)

1361 Entities

1361 reviewed, 1028 green

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews