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| Early-onset Dementia v0.160 | DNAJC5 | Sangavi Sivagnanasundram reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 6153706, 11489285, 12112194, 12790899; Phenotypes: Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant (MIM#162350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.160 | CSF1R | Sangavi Sivagnanasundram reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22934315, 24336230; Phenotypes: Leukoencephalopathy, diffuse hereditary, with spheroids 1 (MIM#221820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.133 | CLN6 |
Bryony Thompson gene: CLN6 was added gene: CLN6 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN6 were set to 30561534 Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300 Review for gene: CLN6 was set to GREEN gene: CLN6 was marked as current diagnostic Added comment: Dementia or cognitive decline was a feature of the condition in 15/20 cases from 13 unrelated families with Kufs type ceroid lipofuscinosis caused by biallelic CLN6 variants. In some cases, this was the initial presenting feature of the condition. Sources: Literature |
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| Early-onset Dementia v0.103 | FUS | Zornitza Stark Marked gene: FUS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.103 | FUS | Zornitza Stark Gene: fus has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.103 | FUS | Zornitza Stark Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.102 | FUS | Zornitza Stark Publications for gene: FUS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.101 | FUS | Zornitza Stark Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.100 | FUS | Zornitza Stark reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32941707, 32770214; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.52 | CTSF |
Elena Savva gene: CTSF was added gene: CTSF was added to Early-onset Dementia. Sources: Expert list Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to PMID: 28749476; 27668283; 27524508 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 Review for gene: CTSF was set to GREEN Added comment: OMIM: Cathepsin is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system. PMID: 28749476 - 1 chet patient (missense, CNV) with FTD, onset at 37 years old. PMID: 27668283 - 2 families with adult-onset neuronal ceroid lipofuscinosis and FTD. Onset in 20s-30s. Light and electron microscopy shows swollen neuronal perikarya and intraneuronal storage of polymorphic lipofuscin-like inclusions PMID: 27524508 - 1 hom family (PTC) with early-onset Alzheimer disease Sources: Expert list |
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| Early-onset Dementia v0.0 | FUS |
Zornitza Stark gene: FUS was added gene: FUS was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: FUS was set to Unknown |
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