Description
Early onset dementia inclusion criteria (29533)
- Progressive cognitive deterioration with change in memory, vision, behaviour or language with functional impairment  
- Age at onset <50 years OR 
- Later onset with family history of dementia of the same type in a first or second degree relative  

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.  In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Early onset dementia exclusion criteria (29533)
- Identified underlying cause, e.g. structural brain lesion. NB in uncertain cases with anxiety/depression brain atrophy on imaging, CSF findings or EEG abnormalities should be available to support the diagnosis of a primary degenerative syndrome

Prior genetic testing guidance (29533)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Early onset Dementia prior genetic testing genes (29533)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- Clinical syndrome Alzheimer disease: PSEN1, APP 
- Clinical syndrome FTLD: MAPT, C9ORF72, GRN

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • simon mead (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

40 Entities

40 reviewed, 28 green

List Entity Reviews Mode of inheritance Details
40 Entitiess
Green Green List (high evidence)
APP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia
  • Clinical syndrome Alzheimer disease
Tags
Green Green List (high evidence)
ATN1_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR
Green Green List (high evidence)
ATXN10_ATTCT
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
  • STR
Green Green List (high evidence)
ATXN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
  • STR
Green Green List (high evidence)
ATXN2_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Green Green List (high evidence)
C9orf72_GGGGCC
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Tags
  • STR
Green Green List (high evidence)
CHMP2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Frontotemporal Dementia
  • Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696
Tags
Green Green List (high evidence)
CSF1R
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia
Tags
  • adult-onset
Green Green List (high evidence)
DNAJC5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Tags
Green Green List (high evidence)
DNMT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dementia, Deafness, and Sensory Neuropathy
Tags
Green Green List (high evidence)
EPM2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green Green List (high evidence)
GRN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Frontotemporal Dementia
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Tags
Green Green List (high evidence)
HTT_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Huntington disease 143100
Tags
  • STR
Green Green List (high evidence)
ITM2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dementia, familial British, 176500
Tags
Green Green List (high evidence)
JPH3_CTG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR
Green Green List (high evidence)
MAPT
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dementia, frontotemporal, with or without parkinsonism, 600274
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Tags
  • treatable
Green Green List (high evidence)
NHLRC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
Green Green List (high evidence)
NOP56_GGCCTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 36 614153
Tags
  • STR
Green Green List (high evidence)
NOTCH3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia
Tags
Green Green List (high evidence)
PRNP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia
  • Clinical syndrome Prion disease
Tags
Green Green List (high evidence)
PSEN1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
Tags
Green Green List (high evidence)
PSEN2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia
Tags
Green Green List (high evidence)
TARDBP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Frontotemporal Dementia
Tags
Green Green List (high evidence)
TBK1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • FTLD
  • ALS
Tags
Green Green List (high evidence)
TBP_CAG
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Green Green List (high evidence)
TYROBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia
Tags
Green Green List (high evidence)
UBQLN2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857
Tags
Green Green List (high evidence)
VCP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
Tags
Red Red List (low evidence)
ATN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
C9orf72
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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
Phenotypes
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3
  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
CHCHD10
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Tags
Red Red List (low evidence)
DCTN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Perry syndrome
Tags
Red Red List (low evidence)
FUS
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Dementia
Tags
Red Red List (low evidence)
GBA
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gaucher disease, type I, 230800
Tags
Red Red List (low evidence)
HNRNPA1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Tags
Red Red List (low evidence)
HTRA1
1 review
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Dementia
Tags
Red Red List (low evidence)
JPH3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
SNCA
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 4, 605543
Tags
Red Red List (low evidence)
SNCB
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dementia, Lewy body, 127750
Tags
Red Red List (low evidence)
TREM2
1 review
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Dementia
Tags

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