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Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.83 ITM2B Sarah Leigh Phenotypes for gene: ITM2B were changed from Dementia, familial British, 176500 to Dementia, familial British, OMIM:176500; ABri amyloidosis, MONDO:0008306; Dementia, familial Danish, OMIM:117300; ADan amyloidosis, MONDO:0007297
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.82 ITM2B Sarah Leigh Publications for gene: ITM2B were set to 10391242; 10781099
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.81 ITM2B Sarah Leigh Publications for gene: ITM2B were set to
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.80 TBP_CAG Sarah Leigh Publications for STR: TBP_CAG were set to
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.79 XK Sarah Leigh reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8619554; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.79 XK Sarah Leigh Classified gene: XK as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.79 XK Sarah Leigh Gene: xk has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.78 XK Sarah Leigh Publications for gene: XK were set to 30128557; 20301528
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.77 XK Sarah Leigh Phenotypes for gene: XK were changed from Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 XK Katherine Schon gene: XK was added
gene: XK was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Literature
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: XK were set to 30128557; 20301528
Phenotypes for gene: XK were set to Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis
Penetrance for gene: XK were set to Complete
Review for gene: XK was set to GREEN
Added comment: McLeod syndrome causes a multi-system disorder. The presentation can resemble Huntington Disease with movement disorder, psychiatric symptoms and cognitive impairment.
Sources: Literature
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.75 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.75 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.74 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.74 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.73 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.73 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.72 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.72 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.70 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.70 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.68 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.68 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.64 PPIA Zornitza Stark gene: PPIA was added
gene: PPIA was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Literature
Mode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPIA were set to 34972208
Phenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976
Review for gene: PPIA was set to RED
Added comment: Paper characterizes a knockout mouse model that recapitulates key features of ALS-FTD. Also identified a heterozygous missense variant in one patient with sporadic amyotrophic lateral sclerosis. Functional studies of the missense variant suggest loss-of-function.
Sources: Literature
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.64 NOP56_GGCCTG Arina Puzriakova Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.63 TBP_CAG Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.62 HTT_CAG Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.61 ATXN1_CAG Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.60 JPH3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.60 JPH3 Arina Puzriakova Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.59 JPH3 Arina Puzriakova Phenotypes for gene: JPH3 were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.58 JPH3_CTG Arina Puzriakova Phenotypes for STR: JPH3_CTG were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.57 C9orf72_GGGGCC Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.56 C9orf72 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.56 C9orf72 Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.55 C9orf72 Arina Puzriakova Phenotypes for gene: C9orf72 were changed from 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) to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.54 ATXN2_CAG Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.53 ATXN10_ATTCT Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.52 ATN1_CAG Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.51 ATN1 Arina Puzriakova Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.50 ATN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.50 ATN1 Arina Puzriakova Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.49 CSF1R Arina Puzriakova Phenotypes for gene: CSF1R were changed from Dementia to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820; Dementia
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.48 SNCB Eleanor Williams reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: None; Publications: 33760043, 15365127, 12641375; Phenotypes: Dementia, Lewy body, OMIM:127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.48 DNMT1 Eleanor Williams reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46 ATN1_CAG Louise Daugherty GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45 ATXN2_CAG Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.44 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.43 TBP_CAG Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.42 NOP56_GGCCTG Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.41 HTT_CAG Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.40 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.39 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.38 ATXN10_ATTCT Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.36 NOP56_GGCCTG Arianna Tucci Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.35 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 TBP_CAG Louise Daugherty Tag STR tag was added to STR: TBP_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Louise Daugherty Tag STR tag was added to STR: NOP56_GGCCTG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 HTT_CAG Louise Daugherty Tag STR tag was added to STR: HTT_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 ATXN10_ATTCT Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Marked STR: NOP56_GGCCTG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Classified STR: NOP56_GGCCTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.33 NOP56_GGCCTG Arianna Tucci STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: NOP56_GGCCTG was set to GREEN
Added comment: added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.31 TBP_CAG Arianna Tucci STR: TBP_CAG was added
STR: TBP_CAG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: TBP_CAG was marked as current diagnostic
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.30 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.30 ATXN10_ATTCT Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.30 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.30 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.30 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.29 ATXN10_ATTCT Arianna Tucci STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 ATXN2_CAG Arianna Tucci Marked STR: ATXN2_CAG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 ATXN2_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.27 ATXN2_CAG Arianna Tucci STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: ATXN2_CAG was set to GREEN
STR: ATXN2_CAG was marked as current diagnostic
Added comment: Sources: Expert Review
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Marked STR: ATXN1_CAG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.25 ATXN1_CAG Arianna Tucci STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: ATXN1_CAG was set to GREEN
STR: ATXN1_CAG was marked as clinically relevant
STR: ATXN1_CAG was marked as current diagnostic
Added comment: Sources: Expert Review
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.24 HTT_CAG Arianna Tucci Marked STR: HTT_CAG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.24 HTT_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.24 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.24 HTT_CAG Arianna Tucci Classified STR: HTT_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.24 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.23 HTT_CAG Arianna Tucci STR: HTT_CAG was added
STR: HTT_CAG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: HTT_CAG was set to GREEN
Added comment: Added to the panel following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results
Sources: Expert Review
Early onset dementia (encompassing fronto-temporal dementia and prion disease) C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Early onset dementia (encompassing fronto-temporal dementia and prion disease) JPH3 Ellen McDonagh commented on STR: JPH3_CTG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Early onset dementia (encompassing fronto-temporal dementia and prion disease) JPH3 Arianna Tucci classified JPH3 as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) C9orf72 Arianna Tucci classified C9orf72 as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Arianna Tucci classified ATN1 as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) JPH3 Ellen McDonagh Added STR to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) C9orf72 Ellen McDonagh Added STR to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Ellen McDonagh Added STR to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Arianna Tucci marked ATN1 as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Arianna Tucci added ATN1 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Arianna Tucci reviewed ATN1
Early onset dementia (encompassing fronto-temporal dementia and prion disease) MAPT Ellen McDonagh reviewed MAPT
Early onset dementia (encompassing fronto-temporal dementia and prion disease) JPH3 Arianna Tucci added JPH3 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) JPH3 Arianna Tucci reviewed JPH3
Early onset dementia (encompassing fronto-temporal dementia and prion disease) PSEN1 Louise Daugherty commented on PSEN1
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DNAJC5 Sarah Leigh added DNAJC5 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DNAJC5 Sarah Leigh reviewed DNAJC5
Early onset dementia (encompassing fronto-temporal dementia and prion disease) EPM2A Sarah Leigh added EPM2A to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) EPM2A Sarah Leigh reviewed EPM2A
Early onset dementia (encompassing fronto-temporal dementia and prion disease) NHLRC1 Sarah Leigh added NHLRC1 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) NHLRC1 Sarah Leigh reviewed NHLRC1
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DCTN1 Ellen Thomas added DCTN1 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DCTN1 Ellen Thomas reviewed DCTN1