Description
This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.

8 reviewers

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Lynn Tan (Melbourne Health)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

95 Entities

95 reviewed, 63 green

List Entity Reviews Mode of inheritance Details
95 Entitiess
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)
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)
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)
CJD
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)
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 MONDO:0019046
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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Perry syndrome, MIM# 168605
Tags
Green Green List (high evidence)
DNAJC5
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)
DNMT1
1 review
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DRPLA
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)
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)
FTDALS
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)
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)
HDL2
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)
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)
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)
NIID
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)
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)
SCA17
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)
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)
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)
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
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)
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)
SQSTM1
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 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
Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
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

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