Early-onset Dementia (Version 1.50)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 99 Entitiess
Green Green List (high evidence)	ANXA11	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 Green List (high evidence)	APP	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 Green List (high evidence)	ARSA	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 Green List (high evidence)	ATN1_DRPLA_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green Green List (high evidence)	ATP13A2	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 Green List (high evidence)	C19orf12	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 Green List (high evidence)	C9orf72_FTDALS_GGGGCC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	CAPRIN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
Green Green List (high evidence)	CHCHD10	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 Green List (high evidence)	CHMP2B	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 Green List (high evidence)	CLN6	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 Green List (high evidence)	COL4A1	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 Green List (high evidence)	CP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
Green Green List (high evidence)	CSF1R	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CST3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cerebral amyloid angiopathy MIM#105150 Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214 Tags founder
Green Green List (high evidence)	CTSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 Tags
Green Green List (high evidence)	CYP27A1	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 Green List (high evidence)	DCTN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Perry syndrome, MONDO:0008201 Tags
Green Green List (high evidence)	DNAJC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNMT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584 Tags
Green Green List (high evidence)	EPM2A	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 Green List (high evidence)	FTL	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 Green List (high evidence)	FUS	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 Green List (high evidence)	GLA	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 Green List (high evidence)	GRN	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 Green List (high evidence)	HTRA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes CARASIL syndrome MIM#600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779 Tags
Green Green List (high evidence)	ITM2B	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 Green List (high evidence)	JPH3_HDL2_CTG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Huntington disease-like 2 MIM#606438 Tags STR
Green Green List (high evidence)	LRRK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MAPT	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 Green List (high evidence)	NHLRC1	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 Green List (high evidence)	NOTCH2NLC_NIID_GGC STR	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 Green List (high evidence)	NOTCH3	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 Green List (high evidence)	NPC1	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 Green List (high evidence)	NPC2	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 Green List (high evidence)	OPTN	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 Green List (high evidence)	PANK2	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 Green List (high evidence)	PARK7	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 Green List (high evidence)	PINK1	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 Green List (high evidence)	PLA2G6	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 Green List (high evidence)	PRKN	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 Green List (high evidence)	PRNP	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 Green List (high evidence)	PRNP_CJD_octapeptide STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green Green List (high evidence)	PSEN1	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 Green List (high evidence)	PSEN2	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 Green List (high evidence)	RNF216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green Green List (high evidence)	SLC9A6	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 Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142 Tags
Green Green List (high evidence)	SNCA	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 Green List (high evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services 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 Green List (high evidence)	SPG21	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 Green List (high evidence)	SQSTM1	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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437) Tags
Green Green List (high evidence)	STUB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 48 MIM#618093 cognitive impairment Spinocerebellar ataxia, autosomal recessive 16 MIM#615768 Tags
Green Green List (high evidence)	TARDBP	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 Green List (high evidence)	TBK1	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 Green List (high evidence)	TBP_SCA17_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags
Green Green List (high evidence)	TREM2	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 Green List (high evidence)	TREX1	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 Green List (high evidence)	TTR	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 Green List (high evidence)	TUBA4A	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 Green List (high evidence)	TYROBP	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 Green List (high evidence)	UBQLN2	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 Green List (high evidence)	VCP	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 Green List (high evidence)	VPS13A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Choreoacanthocytosis MIM#200150 Tags
Green Green List (high evidence)	VPS13C	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 Green List (high evidence)	VPS35	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes {Parkinson disease 17} MIM#614203 Cognitive decline Tags
Green Green List (high evidence)	WDR45	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 list Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5 MIM#300894 Tags
Green Green List (high evidence)	XK	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
Amber Amber List (moderate evidence)	APOE	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 Amber List (moderate evidence)	CCNF	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber Amber List (moderate evidence)	COL4A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Familial porencephaly MONDO:0020496 Tags
Amber Amber List (moderate evidence)	CYLD	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 Amber List (moderate evidence)	GBA	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 Amber List (moderate evidence)	HNRNPA1	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 Amber List (moderate evidence)	HNRNPA2B1	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 Amber List (moderate evidence)	KIF5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670 Tags
Amber Amber List (moderate evidence)	MATR3	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 Amber List (moderate evidence)	POLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 4a MONDO:0008758 Tags
Amber Amber List (moderate evidence)	TAF15	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Amyotrophic lateral sclerosis Frontotemporal dementia Tags
Amber Amber List (moderate evidence)	TIA1	1 review	Other	Sources Expert Review Amber Literature Phenotypes Multisystem proteinopathy Tags
Red Red List (low evidence)	ALS2	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ANG	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ATP7B	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FA2H	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 Red List (low evidence)	FIG4	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GCH1	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GSN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Amyloidosis, Finnish type MIM#105120 Tags
Red Red List (low evidence)	HTRA2	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NR4A2	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PPIA	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 Red List (low evidence)	SETX	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SNCB	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 Red List (low evidence)	SOD1	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SPART	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TET2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Dementia Tags
Red Red List (low evidence)	TH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Segawa syndrome, recessive MIM#605407 Tags
Red Red List (low evidence)	UCHL1	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	VAPB	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
No list No list	ATN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
No list No list	C9orf72	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR

Early-onset Dementia (Version 1.50)

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