Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name APP gene APP Eligibility statement prior genetic testing;Expert Review Green;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia ;Clinical syndrome Alzheimer disease 22503161;23028126 False 3 100;0;0 1.84 True ENSG00000142192 ENSG00000142192 HGNC:620 CHMP2B gene CHMP2B Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal Dementia;Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696 False 3 100;0;0 1.84 True ENSG00000083937 ENSG00000083937 HGNC:24537 CSF1R gene CSF1R Expert Review Green;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820;Dementia False 3 100;0;0 1.84 True ENSG00000182578 ENSG00000182578 HGNC:2433 DNAJC5 gene DNAJC5 Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ceroid lipofuscinosis, neuronal, 4, Parry type 162350" 27604308; 21820099 False 3 100;0;0 1.84 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNMT1 gene DNMT1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, Deafness, and Sensory Neuropathy 23365052 False 3 100;0;0 1.84 True ENSG00000130816 ENSG00000130816 HGNC:2976 EPM2A gene EPM2A Emory Genetics Laboratory;Expert Review;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epilepsy, progressive myoclonic 2A (Lafora) 254780" 27604308; 10932264; 14722920 False 3 100;0;0 1.84 False ENSG00000112425 ENSG00000112425 HGNC:3413 GRN gene GRN Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal Dementia;Clinical syndrome FTLD (Frontotemporal lobar degeneration) False 3 100;0;0 1.84 True ENSG00000030582 ENSG00000030582 HGNC:4601 ITM2B gene ITM2B Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, familial British, OMIM:176500;ABri amyloidosis, MONDO:0008306;Dementia, familial Danish, OMIM:117300;ADan amyloidosis, MONDO:0007297 29525180;10391242;10781099 False 3 100;0;0 1.84 True ENSG00000136156 ENSG00000136156 HGNC:6174 MAPT gene MAPT Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, frontotemporal, with or without parkinsonism, 600274;Clinical syndrome FTLD (Frontotemporal lobar degeneration) False 3 100;0;0 1.84 True ENSG00000186868 ENSG00000186868 HGNC:6893 NHLRC1 gene NHLRC1 Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epilepsy, progressive myoclonic 2B (Lafora) 254780" 12958597; 15781812 False 3 100;0;0 1.84 False ENSG00000187566 ENSG00000187566 HGNC:21576 NOTCH3 gene NOTCH3 Expert Review Green;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia False 3 100;0;0 1.84 True ENSG00000074181 ENSG00000074181 HGNC:7883 PRNP gene PRNP Eligibility statement prior genetic testing;Expert Review Green;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia ;Clinical syndrome Prion disease 26791950;20583301 False 3 100;0;0 1.84 True ENSG00000171867 ENSG00000171867 HGNC:9449 PSEN1 gene PSEN1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acne inversa, familial, 3, 613737;Alzheimer disease, type 3, 607822;Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822;Cardiomyopathy, dilated, 1U, 613694;Dementia, frontotemporal, 600274;Pick disease, 172700;Clinical syndrome Alzheimer disease 22503161;23028126 False 3 100;0;0 1.84 True ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Expert Review Green;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia 22503161;23028126 False 3 100;0;0 1.84 True ENSG00000143801 ENSG00000143801 HGNC:9509 TARDBP gene TARDBP Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal Dementia 20697052 False 3 100;0;0 1.84 True ENSG00000120948 ENSG00000120948 HGNC:11571 TBK1 gene TBK1 Expert Review Green;Literature Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FTLD; ALS 26476236;25803835;26581300 False 3 100;0;0 1.84 True ENSG00000183735 ENSG00000183735 HGNC:11584 TYROBP gene TYROBP Expert Review Green;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dementia 15049507 False 3 100;0;0 1.84 True ENSG00000011600 ENSG00000011600 HGNC:12449 UBQLN2 gene UBQLN2 Expert Review Green;Radboud University Medical Center, Nijmegen Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 False 3 100;0;0 1.84 True ENSG00000188021 ENSG00000188021 HGNC:12509 VCP gene VCP Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 False 3 100;0;0 1.84 True ENSG00000165280 ENSG00000165280 HGNC:12666 XK gene XK Expert Review Green;Literature Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) McLeod syndrome with or without chronic granulomatous disease, OMIM:300842;McLeod neuroacanthocytosis syndrome, MONDO:0018945 30128557;20301528;8004674 False 3 100;0;0 1.84 False ENSG00000047597 ENSG00000047597 HGNC:12811 ATN1 gene ATN1 Expert Review Red;Other Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 0;0;100 1.84 True Other - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 C9orf72 gene C9orf72 Eligibility statement prior genetic testing;Expert Review Red; Illumina TruGenome Clinical Sequencing Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN; UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 1 100;0;0 1.84 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147894 ENSG00000147894 HGNC:28337 CHCHD10 gene CHCHD10 Expert Review Red;Radboud University Medical Center, Nijmegen Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 False 1 0;0;100 1.84 True ENSG00000250479 ENSG00000250479 HGNC:15559 DCTN1 gene DCTN1 Other Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Perry syndrome False 1 0;100;0 1.84 False ENSG00000204843 ENSG00000204843 HGNC:2711 FUS gene FUS Expert Review Red;UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Dementia False 1 100;0;0 1.84 False ENSG00000089280 ENSG00000089280 HGNC:4010 GBA gene GBA Radboud University Medical Center, Nijmegen Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Gaucher disease, type I, 230800 False 1 0;100;0 1.84 False ENSG00000177628 ENSG00000177628 HGNC:4177 HNRNPA1 gene HNRNPA1 Radboud University Medical Center, Nijmegen Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal False 1 0;100;0 1.84 False ENSG00000135486 ENSG00000135486 HGNC:5031 HTRA1 gene HTRA1 UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Dementia False 1 0;0;100 1.84 False ENSG00000166033 ENSG00000166033 HGNC:9476 JPH3 gene JPH3 Expert Review Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Huntington disease-like 2, OMIM:606438 False 1 0;0;100 1.84 False Other - please provide details in the comments ENSG00000154118 ENSG00000154118 HGNC:14203 SNCA gene SNCA Expert Review Red;Radboud University Medical Center, Nijmegen Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease 4, 605543 False 1 100;0;0 1.84 False ENSG00000145335 ENSG00000145335 HGNC:11138 SNCB gene SNCB Radboud University Medical Center, Nijmegen Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Dementia, Lewy body, 127750 False 1 0;50;50 1.84 False ENSG00000074317 ENSG00000074317 HGNC:11140 TREM2 gene TREM2 UKGTN Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders Dementia False 1 0;0;100 1.84 False ENSG00000095970 ENSG00000095970 HGNC:17761 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert list Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136840 False 3 100;0;0 1.84 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;Expert Review Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 False 3 0;0;0 1.84 True ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert Review Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 1.84 True ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;Expert Review Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090;{Parkinson disease, late-onset, susceptibility to}, OMIM:168600 False 3 100;0;0 1.84 True ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 C9orf72_GGGGCC str C9orf72 Expert Review Green;NHS GMS;Expert list Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 3 100;0;0 1.84 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200 HTT_CAG str HTT Expert Review Green;NHS GMS;Expert Review Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease, OMIM:143100 False 3 100;0;0 1.84 True ENSG00000197386 ENSG00000197386 HGNC:4851 4 3076604 3076666 3074877 3074939 CAG 36 40 JPH3_CTG str JPH3 Expert Review Green;NHS GMS;Expert list Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2, OMIM:606438 False 3 100;0;0 1.84 False ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40 NOP56_GGCCTG str NOP56 Expert Review Green;NHS GMS;Expert Review Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 3 100;0;0 1.84 True ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 TBP_CAG str TBP Expert Review Green;NHS GMS;Expert Review Early onset dementia (encompassing fronto-temporal dementia and prion disease) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 20301611;34906452;35493319 False 3 0;0;0 1.84 True ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49