Neurodegenerative disease - adult onset (Version 6.47)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 493 Entitiess
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)	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 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 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)	ADAR Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 6 neuroinflammatory disorder with cerebral calcification progressive loss of cognition spasticity dystonia parkinsonism OMIM 615010 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)	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)	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)	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)	ANXA11 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes amyotrophic lateral sclerosis type 23 MONDO:0027694 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)	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)	APP Early-onset Dementia v1.29	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 Alzheimer disease MONDO:0007088 Tags
Green List (high evidence)	ARSA Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Metachromatic leukodystrophy, MIM# 250100, adult-onset 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)	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)	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 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)	ATP13A2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Kufor-Rakeb syndrome, MIM# 606693 Tags
Green List (high evidence)	ATP13A2 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes parkinsonism due to ATP13A2 deficiency MONDO:0017809 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)	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)	ATP1A3 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes ATP1A3-associated neurological disorder MONDO:0700002 Tags
Green List (high evidence)	ATP6AP2 Early-onset Parkinson disease v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Parkinsonism with spasticity, X-linked, MIM# 300911 Tags
Green List (high evidence)	ATP7B Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Wilson disease MIM#277900 Tags
Green List (high evidence)	ATXN1_CAG STR Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar Ataxia type 1 Parkinsonism OMIM 164400 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)	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)	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)	C19orf12 Early-onset Dementia v1.29	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 Neurodegeneration with brain iron accumulation 4, MIM# 614298 Tags
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 Early-onset Parkinson disease v2.10	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 neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green List (high evidence)	C9orf3 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 31, MIM# 619565 Childhood/Adolescence onset generalised dystonia Dystonia parkinsonism Zech-Boesch Syndrome Tags new gene name
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)	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)	CHCHD10 Early-onset Dementia v1.29	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 2, MIM# 615911 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)	CHCHD2 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green List (high evidence)	CHMP2B Early-onset Dementia v1.29	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 7 (MIM#600795 MONDO:0010936) 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)	CJD STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 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)	CLN3 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
Green List (high evidence)	CLN6 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300 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)	COL4A1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 1 with or without ocular anomalies MONDO:0008289 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814 Tags
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)	CP Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
Green List (high evidence)	CP Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290 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)	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)	CSF1R Early-onset Dementia v1.29	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
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)	CSF1R Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027 Tags
Green List (high evidence)	CST3 Early-onset Dementia v1.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cerebral amyloid angiopathy MIM#105150 leukodystrophy MONDO:0019046 Tags founder
Green List (high evidence)	CTSF Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 Tags
Green List (high evidence)	CYP27A1 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Tags
Green List (high evidence)	CYP27A1 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas Epilepsy Parkinsonism Ataxia Peripheral neuropathy 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)	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)	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)	DCTN1 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Perry syndrome MONDO:0008201 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)	DCTN1 Early-onset Dementia v1.29	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 Perry syndrome, MIM# 168605 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 - 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)	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)	DNAJC12 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 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)	DNAJC5 Early-onset Parkinson disease v2.10	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 Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 Tags
Green List (high evidence)	DNAJC5 Early-onset Dementia v1.29	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DNAJC6 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes juvenile onset Parkinson disease 19A MONDO:0014231 Tags
Green List (high evidence)	DNMT1 Early-onset Dementia v1.29	1 review	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green 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)	DRPLA STR Early-onset Dementia v1.29	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)	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)	EIF2AK2 Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Neurodevelopmental Syndrome Developmental delays Ataxia Parkinsonism White matter alterations 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)	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)	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)	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)	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 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780 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)	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)	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)	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)	FBXO7 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes parkinsonian-pyramidal syndrome MONDO:0009830 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)	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)	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)	FOXG1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Rett syndrome, congenital variant, MIM# 613454 Developmental and Epileptic Encephalopathy Dystonia, Athetosis Parkinsonism Stereotypies 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)	FRRS1L Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 37, MIM# 616981 Seizures Chorea Parkinsonism Developmental delay Tags
Green List (high evidence)	FTDALS STR Early-onset Parkinson disease v2.10	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)	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)	FTDALS STR Early-onset Dementia v1.29	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)	FTL Early-onset Dementia v1.29	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 Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags
Green List (high evidence)	FTL Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FUS Early-onset Dementia v1.29	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)	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 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 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)	FXTAS STR Early-onset Parkinson disease v2.10	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 Literature Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 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)	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)	GBA Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parkinson's disease, MONDO:0005180, GBA-related 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)	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)	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)	GCH1 Early-onset Parkinson disease v2.10	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 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 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)	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)	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)	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)	GLA Early-onset Dementia v1.29	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 Literature Phenotypes Fabry disease MONDO:0010526 Tags
Green List (high evidence)	GLB1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes GM1-gangliosidosis, type III , MIM#230650 Parkinsonism Tags
Green List (high evidence)	GRN Early-onset Dementia v1.29	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 MONDO:0030923 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)	GRN Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485 Tags
Green List (high evidence)	HD STR Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Huntington disease MIM#143100 Tags STR
Green List (high evidence)	HDL2 STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Huntington disease-like 2 MIM#606438 Tags STR
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)	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)	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)	HTRA1 Early-onset Dementia v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes CARASIL syndrome MIM#600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779 Tags
Green List (high evidence)	ITM2B Early-onset Dementia v1.29	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 Cerebral amyloid angiopathy MONDO:0005620 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)	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)	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)	KIAA1161 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317 Primary familial brain calcification Atypical parkinsonism Supranuclear gaze palsy Tags new gene name
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)	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 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)	KMT2B Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset , MIM#617284 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)	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)	LRRK2 Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LRRK2 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LYST Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Chediak-Higashi syndrome MONDO:0008963 Tags
Green List (high evidence)	MAPT Early-onset Parkinson disease v2.10	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 late-onset Parkinson disease MONDO:0008199 Tags
Green List (high evidence)	MAPT Early-onset Dementia v1.29	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 Supranuclear palsy, progressive (MIM# 601104) AD Supranuclear palsy, progressive atypical (MIM# 260540) AR Tags
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)	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)	MECP2 Early-onset Parkinson disease v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 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)	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)	NHLRC1 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780 Tags
Green List (high evidence)	NIID STR Early-onset Parkinson disease v2.10	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 Early-onset Dementia v1.29	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)	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)	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)	NOTCH3 Early-onset Dementia v1.29	2 reviews 2 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 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 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 Early-onset Dementia v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type C1 (MIM#257220 MONDO:0009757) Tags
Green List (high evidence)	NPC1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann-Pick disease, MIM# 257220 Parkinsonism Tags
Green List (high evidence)	NPC2 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann Pick C2, OMIM 607625 Parkinsonism Tags
Green List (high evidence)	NPC2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2 MIM#607625 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)	NR4A2 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green List (high evidence)	NUS1 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM# 617831 Parkinsonism Developmental delay Intellectual disability Ataxia Myoclonus 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)	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)	OPTN Early-onset Dementia v1.29	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 12 with or without frontotemporal dementia (MIM#613435) Tags
Green List (high evidence)	PANK2 Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Tags
Green List (high evidence)	PANK2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 1 (MIM#234200) Tags
Green List (high evidence)	PARK7 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PARK7 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive early-onset Parkinson disease 7 MONDO:0011658 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)	PDE8B Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Striatal degeneration, autosomal dominant, MIM#609161 Tags
Green List (high evidence)	PDGFB Early-onset Parkinson disease v2.10	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 Basal ganglia calcification, idiopathic, 5, MIM# 615483 Tags
Green List (high evidence)	PDGFRB Early-onset Parkinson disease v2.10	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 Basal ganglia calcification, idiopathic, 4, MIM# 615007 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)	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)	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)	PGK1 Early-onset Parkinson disease v2.10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 Haemolytic anaemia Rhabdomyolysis Myopathy Juvenile Parkinsonism OMIM 300653 Tags
Green List (high evidence)	PINK1 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 6, early onset MIM#605909 Tags
Green List (high evidence)	PINK1 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PLA2G6 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive Parkinson disease 14 MONDO:0013060 Tags
Green List (high evidence)	PLA2G6 Early-onset Dementia v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 14, autosomal recessive, MIM# 612953 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)	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 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)	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)	POLG Early-onset Parkinson disease v2.10	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 autosomal dominant progressive external ophthalmoplegia MONDO:0008003 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 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 POLR3A Leukoencephalopathy Parkinsonism Ocular and dental abnormality Hypogonadism Tags
Green List (high evidence)	PPP2R5D Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Early onset Parkinsonism Houge-Janssens syndrome 1, MIM#616355 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)	PRKCG Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Myoclonus Parkinsonism 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)	PRKN Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease, juvenile, type 2 MIM#600116 Tags
Green List (high evidence)	PRKN Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive juvenile Parkinson disease 2 MONDO:0010820 Tags
Green List (high evidence)	PRKRA Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes dystonia 16 MONDO:0012789 Tags
Green List (high evidence)	PRNP Early-onset Dementia v1.29	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 Prion Disease (MIM#176640) Creutzfeldt-Jakob disease (MIM#123400) Tags
Green List (high evidence)	PRNP Early-onset Parkinson disease v2.10	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 inherited Creutzfeldt-Jakob disease MONDO:0007403 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 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)	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)	PSAP Early-onset Parkinson disease v2.10	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491 Tags
Green List (high evidence)	PSEN1 Early-onset Parkinson disease v2.10	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 Alzheimer disease 3 MONDO:0011913 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)	PSEN1 Early-onset Dementia v1.29	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 Alzheimer disease, type 3 (MIM#607822 MONDO:0011913) Tags
Green List (high evidence)	PSEN2 Early-onset Dementia v1.29	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 Alzheimer disease-4 (MIM#606889) Tags
Green List (high evidence)	PSMF1 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Tags
Green List (high evidence)	PTRHD1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Tags
Green List (high evidence)	PTS Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services 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)	QDPR Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Dehydropteridin reductase deficiency, Infantile-onset dystonia Parkinsonism Epilepsy Autonomic dysfunction Hyperphenylalaninemia Tags
Green List (high evidence)	RAB39B Early-onset Parkinson disease v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709 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)	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)	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 Early-onset Dementia v1.29	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)	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)	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 - 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)	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)	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)	SCA17 STR Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17 MIM#607136 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)	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)	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)	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)	SCN1A Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dravet syndrome, MIM# 607208 Epilepsy, Paekinsonism Tags
Green List (high evidence)	SERAC1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Parkinsonism 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 - 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)	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)	SLC18A2 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia, infantile, 2 , MIM# 618049 Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism Tags
Green List (high evidence)	SLC19A3 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Childhood onset Dystonia and Parkinsonism 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)	SLC20A2 Early-onset Parkinson disease v2.10	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 Basal ganglia calcification, idiopathic, 1, MIM# 213600 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)	SLC30A10 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208 Tags
Green List (high evidence)	SLC39A14 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Hypermanganesemia with dystonia 2 (MIM# 617013) 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)	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)	SLC6A3 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
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)	SNCA Early-onset Dementia v1.29	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 Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags
Green List (high evidence)	SNCA Early-onset Parkinson disease v2.10	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 Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags SV/CNV
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)	SOX6 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tolchin-Le Caignec syndrome, MIM# 618971 Developmental delay ID ASD ADHD Parkinsonism Syringomyelia 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)	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 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)	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 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Spastic paraplegia 11, autosomal recessive MIM#604360 Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668 Amyotrophic lateral sclerosis 5, juvenile MIM#602099 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 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green List (high evidence)	SPG21 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Mast syndrome, MIM# 248900 Tags new gene name
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 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)	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 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Ataxia Progressive external opthalmoplegia Parkinsonism Tags
Green List (high evidence)	SPR Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 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)	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)	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 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar Ataxia 48, OMIM 618093 Parkinsonism Tags
Green List (high evidence)	STUB1 Early-onset Dementia v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 48 MIM#618093 cognitive impairment Spinocerebellar ataxia, autosomal recessive 16 MIM#615768 Tags
Green List (high evidence)	STXBP1 Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Juvenile onset Parkinsonism 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)	SYNJ1 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 20, early-onset, MIM# 615530 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)	TARDBP Early-onset Dementia v1.29	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 10, with or without FTD (MIM#612069) Tags
Green List (high evidence)	TBC1D24 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 16, MIM# 615338 Intellectual disability Parkinsonism Seizures Psychosis Tags
Green List (high evidence)	TBK1 Early-onset Dementia v1.29	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 4, MIM# 616439 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)	TH Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Tyrosine hydroxylase deficiency MONDO:0100064 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)	TPP1 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 Parkinsonism Tags
Green List (high evidence)	TREM2 Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 {Alzhieimer disease 17, susceptibility to}, MIM# 615080 Tags
Green List (high evidence)	TREX1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0008641 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)	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)	TTR Early-onset Dementia v1.29	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 Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Tags
Green List (high evidence)	TUBA4A Early-onset Dementia v1.29	2 reviews 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 22 with or without frontotemporal dementia, MIM# 616208 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 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 - 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)	TWNK Early-onset Parkinson disease v2.10	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 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green List (high evidence)	TYROBP Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770) 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 Early-onset Dementia v1.29	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 Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857) 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 Early-onset Parkinson disease v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 Parkinsonism Dystonia Chorea Brain atrophy Tags
Green List (high evidence)	VAC14 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Striatonigral degeneration, childhood-onset, MIM# 617054 Dystonia Parkinsonism 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 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 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 Early-onset Dementia v1.29	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 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954) Tags
Green List (high evidence)	VPS13A Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Choreoacanthocytosis MIM#200150 Tags
Green List (high evidence)	VPS13A Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes chorea-acanthocytosis MONDO:0008695 Tags
Green List (high evidence)	VPS13C Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Parkinson disease 23, autosomal recessive, early onset MIM#616840 Tags
Green List (high evidence)	VPS13C Early-onset Dementia v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes autosomal recessive early-onset Parkinson disease 23 MONDO:0014796 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)	VPS35 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes {Parkinson disease 17} MIM#614203 Cognitive decline Tags
Green List (high evidence)	VPS35 Early-onset Parkinson disease v2.10	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 Parkinson disease 17, MIM# 614203 Tags
Green List (high evidence)	WARS2 Early-onset Parkinson disease v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 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)	WDR45 Early-onset Dementia v1.29	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 Neurodegeneration with brain iron accumulation 5 MIM#300894 Tags
Green List (high evidence)	WDR45 Early-onset Parkinson disease v2.10	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 X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green List (high evidence)	XDP STR Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green List (high evidence)	XK Early-onset Dementia v1.29	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Tags
Green List (high evidence)	XPR1 Early-onset Parkinson disease v2.10	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 Basal ganglia calcification, idiopathic, 6, MIM# 616413 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)	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 Early-onset Parkinson disease v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Spastic paraplegia and retinal degeneration Kjellin syndrome Parkinsonism Tags
Amber List (moderate evidence)	AFG3L2 Early-onset Parkinson disease v2.10	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 28, MIM# 610246 optic atrophy spastic ataxia L-dopa-responsive parkinsonism 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)	APOE Early-onset Dementia v1.29	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 2, MIM# 104310 Tags
Amber List (moderate evidence)	APP Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 1, familial, MIM# 104300 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)	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)	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)	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)	CCNF Early-onset Dementia v1.29	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)	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)	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)	COASY Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 6, MIM# 615643 Tags
Amber List (moderate evidence)	COL4A2 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Familial porencephaly MONDO:0020496 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)	CYLD Early-onset Dementia v1.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Amber List (moderate evidence)	DDC Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Infantile-onset parkinsonism & dystonia Bulbar dysfunction Oculogyric crisis Autonomic dysfunction Intellectual disability Tags
Amber List (moderate evidence)	DHDDS Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM# 617836 Myoclonic Epilepsy Parkinsonism Ataxia Intellectual disability 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)	EPM2A Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Progressive Myoclonic Epilepsy Parkinsonism 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)	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)	GBA Early-onset Dementia v1.29	2 reviews	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes {Lewy body dementia, susceptibility to} (MIM# 127750) 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)	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)	HNRNPA1 Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424 Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Amber List (moderate evidence)	HNRNPA2B1 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 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)	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)	KIF5A Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 10, autosomal dominant MIM#604187 Tags
Amber List (moderate evidence)	KIF5A Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670 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)	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)	MATR3 Early-onset Dementia v1.29	1 review	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 21 MIM#606070 frontotemporal dementia multisystem proteinopathy 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)	NHLRC1 Early-onset Parkinson disease v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 Lafora disease Progressive Myoclonic Epilepsy Parkinsonism 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)	PNPLA6 Early-onset Parkinson disease v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 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)	POLG Early-onset Dementia v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 4a MONDO:0008758 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)	PTPA Early-onset Parkinson disease v2.10	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO: 36073231, PTPA-related Parkisonism Tags
Amber List (moderate evidence)	RAB32 Early-onset Parkinson disease v2.10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 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)	SQSTM1 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437) 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)	TAF15 Early-onset Dementia v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis Frontotemporal dementia 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 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 Early-onset Dementia v1.29	1 review	Other	Sources Expert Review Amber Literature Phenotypes Multisystem proteinopathy 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)	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)	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)	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)	UQCRC1 Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parkinsonism with polyneuropathy, MIM# 619279 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)	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)	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)	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)	ALPL Early-onset Parkinson disease v2.10	2 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypophosphatasia, adult, MIM# 146300 Osteomalacia Parkinsonism Tags
Red List (low evidence)	ALS2 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	ANG Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	ANG Early-onset Parkinson disease v2.10	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Parkinson disease MONDO:0005180 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)	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)	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)	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)	ATP7B Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services 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)	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)	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)	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)	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)	DCAF17 Early-onset Parkinson disease v2.10	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	DNAJC13 Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list 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)	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)	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)	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)	FA2H Early-onset Dementia v1.29	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 35, autosomal recessive, MIM# 612319 Tags
Red List (low evidence)	FIG4 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	FUS Early-onset Parkinson disease v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes tremor, hereditary essential, 4 MONDO:0013888 Tags
Red List (low evidence)	GCH1 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	GIGYF2 Early-onset Parkinson disease v2.10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes {Parkinson disease 11} , OMIM # 607688 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)	GSN Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Amyloidosis, Finnish type MIM#105120 Tags
Red List (low evidence)	HEXA Early-onset Parkinson disease v2.10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes GM2 Gangliosidosis Tay-Sachs disease Parkinsonism OMIM 272800 Tags
Red List (low evidence)	HTRA2 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
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)	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)	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)	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)	NR4A2 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	OPA3 Early-onset Parkinson disease v2.10	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services 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)	PODXL Early-onset Parkinson disease v2.10	1 review	Unknown	Sources Literature Phenotypes juvenile-onset Parkinson disease Tags
Red List (low evidence)	PPIA Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated Tags
Red List (low evidence)	PSEN2 Early-onset Parkinson disease v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Parkinsonism Alzheimer disease-4 MIM#606889 Tags
Red List (low evidence)	RIC3 Early-onset Parkinson disease v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Parkinson 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)	SETX Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services 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)	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)	SNCB Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dementia, Lewy body, MIM#127750 Tags disputed
Red List (low evidence)	SOD1 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	SPART Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services 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)	TET2 Early-onset Dementia v1.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Dementia 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)	TH Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	TMEM230 Early-onset Parkinson disease v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Parkinson disease 21, MIM#616361 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)	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)	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)	TUBB4A Early-onset Parkinson disease v2.10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services 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)	UCHL1 Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red List (low evidence)	VAPB Early-onset Dementia v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 8 MIM#608627 Spinal muscular atrophy, late-onset, Finkel type MIM#182980 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)	WASL Early-onset Parkinson disease v2.10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Parkinson's disease, MONDO:0005180, WASL-related 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
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	ATN1 Early-onset Dementia v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list 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 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 10 Parkinsonism OMIM 603516 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 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 2 Parkinsonism Myoclonus OMIM 183090 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	ATXN3 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar 3 Machado Joseph disease Ataxia Parkinsonism OMIM 109150 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	ATXN8 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar 8 Parkinsonism OMIM 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	C9orf72 Early-onset Parkinson disease v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list	C9orf72 Early-onset Dementia v1.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list	CAPRIN1 Early-onset Dementia v1.29	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	FMR1 Early-onset Parkinson disease v2.10	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 Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
No list	HTT Early-onset Parkinson disease v2.10	1 review 1 green	Unknown	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags STR
No list	JPH3 Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Huntington Disease Like 2 (HDL2) Parkinsonism Severe Dementia OMIM 606438 Tags STR
No list	MT-ND6 Early-onset Parkinson disease v2.10	1 review 1 green	MITOCHONDRIAL	Sources Literature Phenotypes Leber Optic Atrophy Parkinsonism OMIM 516006 Tags mtDNA
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	PPP2R2B Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar ataxia 12 Parkinsonism OMIM 604326 Tags STR
No list	TAF1 Early-onset Parkinson disease v2.10	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dystonia-Parkinsonism, X-linked, MIM# 314250 Tags deep intronic founder STR
No list	TBP Early-onset Parkinson disease v2.10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 17 Parkinsonism Chorea Seizures Psychosis Dementia OMIM 607136 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

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