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Adult onset neurodegenerative disorder v4.44 | DNAJC7 | Sarah Leigh Publications for gene: DNAJC7 were set to https://doi.org/10.1212/NXG.0000000000000503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v4.41 | DAO | Ivone Leong Added comment: Comment on list classification: This gene has been demoted from Amber to Red. This gene has been refuted by ClinGen ALS spectrum disorders (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35ac00ac-3279-4c7e-89b6-8a75e3cae414-2022-04-12T103808.867Z?page=1&size=25&search=) (4/12/2022) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v3.58 | NEK1 |
Sarah Leigh changed review comment from: Associated with Amyotrophic lateral sclerosis, susceptibility to, 24 (OMIM:617892), but not associated with a relevant phenotype in Gen2Phen. At least 12 NEK1 variants have been reported in amyotrophic lateral sclerosis cases (PMID: 30093141; 31768050; 26945885; 27455347), together with supportive functional studies (PMID: 2992911).; to: Associated with Amyotrophic lateral sclerosis, susceptibility to, 24 (OMIM:617892), but not associated with a relevant phenotype in Gen2Phen. At least 12 NEK1 variants have been reported in amyotrophic lateral sclerosis cases (PMID: 30093141; 31768050; 26945885; 27455347), together with supportive functional studies (PMID: 2992911). ClinGen Definitive gene - disease classification (29/04/2022): https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb4f311c-df33-4d9e-8ac6-731b43b93615-2022-04-29T192526.542Z?page=1&size=25&search= |
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Adult onset neurodegenerative disorder v2.267 | HTT_CAG | Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.267 | HTT_CAG | Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.267 | HTT_CAG | Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.264 | HTT_CAG |
Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source Expert Review Removed was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to No List (delete) |
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Adult onset neurodegenerative disorder v2.261 | HTT_CAG | Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.261 | HTT_CAG | Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.260 | HTT_CAG |
Arina Puzriakova Tag for-review was removed from STR: HTT_CAG. Tag curated_removed was removed from STR: HTT_CAG. |
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Adult onset neurodegenerative disorder v2.260 | HTT_CAG | Arina Puzriakova edited their review of STR: HTT_CAG: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.260 | HTT_CAG | Arina Puzriakova commented on STR: HTT_CAG: After NHS Genomic Medicine Service consideration, this STR has been promoted back to green on the R58 panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.235 | HTT | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.235 | HTT | Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.234 | HTT | Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease 143100; Huntingtons disease (HD) to Huntington disease, OMIM:143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.233 | HTT_CAG | Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.87 | GCH1 | Ivone Leong Publications for gene: GCH1 were set to 25497597; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24509643; 24993959; 21935284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.84 | FTL | Ivone Leong Publications for gene: FTL were set to 24209436; http://www.ncbi.nlm.nih.gov/pubmed/24209436 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.39 | HTT_CAG | Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.38 | HTT_CAG | Arina Puzriakova commented on STR: HTT_CAG: Tagged 'for-review' to highlight the recent review by Helen Brittain (Genomics England Clinical Team) indicating that exclusion of this STR may increase risk of missed diagnoses. HTT_CAG was removed from this panel in October 2020 at request of the GMS Specialist Test Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.38 | HTT_CAG | Arina Puzriakova Tag for-review tag was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.38 | HTT_CAG | Helen Brittain reviewed STR: HTT_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease # 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.17 | HTT_CAG | Arina Puzriakova Classified STR: HTT_CAG as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.17 | HTT_CAG | Arina Puzriakova Added comment: Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.17 | HTT_CAG | Arina Puzriakova Str: htt_cag has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.16 | DNAJC7 |
Zornitza Stark gene: DNAJC7 was added gene: DNAJC7 was added to Neurodegenerative disorders - adult onset. Sources: Literature Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC7 were set to https://doi.org/10.1212/NXG.0000000000000503 Phenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis Review for gene: DNAJC7 was set to AMBER Added comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. No segregation or functional data. A small number of individuals with LOF variants are present in gnomad albeit less than expected. Given these are cohort studies, and an adult-onset condition, potentially of variable penetrance, we have taken a cautious approach and rated Amber for now but would be interested in other expert opinions. No PMID yet. Sources: Literature |
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Adult onset neurodegenerative disorder v1.81 | TAF1 | Louise Daugherty Publications for gene TAF1 were changed from PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812 to 11714101; 20301662; 26769797; 2368812; 12928496; 26637982; 17273961; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17668393; 23184149; 26879577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.81 | SGCE | Louise Daugherty Publications for gene SGCE were changed from 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078 to 12325078; 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23332219; 22626943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.81 | PRKRA | Louise Daugherty Publications for gene PRKRA were changed from 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287 to 24142417; 25737287 26990861; 18420150.; 25914261; 25737287; 18243799; 26990861; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; 22842711; 25142429 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.81 | GCH1 | Louise Daugherty Publications for gene GCH1 were changed from 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/ to 25497597; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24509643; 24993959; 21935284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.81 | ATP1A3 | Louise Daugherty Publications for gene ATP1A3 were changed from 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15260953; 22842232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.80 | PRKRA |
Louise Daugherty changed review comment from: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287; to: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m. Panel Version: 1.74 Edit your comment Delete comment Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Created: 23 Apr 2019, 5:35 p.m. |
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Adult onset neurodegenerative disorder v1.80 | PRKRA | Louise Daugherty commented on gene: PRKRA: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.75 | HTT_CAG | Louise Daugherty commented on STR: HTT_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.75 | HTT_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.74 | HTT | Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.72 | HTT | Nick Beauchamp reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease 143100, Huntingtons disease (HD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.69 | HTT | Louise Daugherty Source NHS GMS was added to HTT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.67 | HTT | Louise Daugherty Source Yorkshire and North East GLH was added to HTT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.59 | HTT_CAG | Louise Daugherty Source NHS GMS was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.57 | HTT_CAG | Louise Daugherty Source London North GLH was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.55 | C9orf72 | Louise Daugherty Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.13 | HTT_CAG | Louise Daugherty edited their review of STR: HTT_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.60 | HTT_CAG | Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.60 | HTT_CAG | Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.60 | HTT_CAG | Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.60 | HTT_CAG | Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.59 | HTT_CAG |
Louise Daugherty STR: HTT_CAG was added STR: HTT_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150 Sources: Expert list |
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Adult onset neurodegenerative disorder v0.2 | HTT |
Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: HTT. Tag currently-ngs-unreportable tag was added to gene: HTT. |
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Adult onset neurodegenerative disorder v0.2 | TOR1A |
Rebecca Foulger gene: TOR1A was added gene: TOR1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOR1A were set to 17503336; 16537570; 11523564; 9288096; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301665 Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia |
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Adult onset neurodegenerative disorder v0.2 | THAP1 |
Rebecca Foulger gene: THAP1 was added gene: THAP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THAP1 were set to 21793105; http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: THAP1 were set to Dystonia; Dystonia 6, torsion, 602629 |
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Adult onset neurodegenerative disorder v0.2 | TH |
Rebecca Foulger gene: TH was added gene: TH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: TH were set to infantile parkinsonism; Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia |
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Adult onset neurodegenerative disorder v0.2 | TAF1 |
Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: TAF1 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: TAF1 were set to PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812 Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250 |
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Adult onset neurodegenerative disorder v0.2 | SPR |
Rebecca Foulger gene: SPR was added gene: SPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443 Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia |
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Adult onset neurodegenerative disorder v0.2 | SGCE |
Rebecca Foulger gene: SGCE was added gene: SGCE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: SGCE were set to 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078 Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900 |
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Adult onset neurodegenerative disorder v0.2 | PRRT2 |
Rebecca Foulger gene: PRRT2 was added gene: PRRT2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRT2 were set to 22120146; 22399141; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22744660 Phenotypes for gene: PRRT2 were set to Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200 |
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Adult onset neurodegenerative disorder v0.2 | PRKRA |
Rebecca Foulger gene: PRKRA was added gene: PRKRA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287 Phenotypes for gene: PRKRA were set to Dystonia 16; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease |
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Adult onset neurodegenerative disorder v0.2 | PNKD |
Rebecca Foulger gene: PNKD was added gene: PNKD was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNKD were set to 15262732; 15496428; 15824259; http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
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Adult onset neurodegenerative disorder v0.2 | HTT | Rebecca Foulger Added phenotypes Huntingtons disease (HD) for gene: HTT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.2 | HTT |
Rebecca Foulger gene: HTT was added gene: HTT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HTT were set to Huntington disease 143100 |
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Adult onset neurodegenerative disorder v0.2 | GNAL |
Rebecca Foulger gene: GNAL was added gene: GNAL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAL were set to 25847575; 24729450; 24535567; 24408567; 26365774; 26810727; 27093447; 27123488; 23222958; 26506956; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23449625; 23759320; 25382112; 24151159; 26725140 Phenotypes for gene: GNAL were set to Dystonia 25, 615073 |
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Adult onset neurodegenerative disorder v0.2 | GCH1 |
Rebecca Foulger gene: GCH1 was added gene: GCH1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD) |
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Adult onset neurodegenerative disorder v0.2 | FTL |
Rebecca Foulger gene: FTL was added gene: FTL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTL were set to 24209436; http://www.ncbi.nlm.nih.gov/pubmed/24209436 Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3; movement disorder |
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Adult onset neurodegenerative disorder v0.2 | DRD2 |
Rebecca Foulger gene: DRD2 was added gene: DRD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DRD2 was set to Unknown Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/ Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900 |
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Adult onset neurodegenerative disorder v0.2 | C9orf72 |
Rebecca Foulger gene: C9orf72 was added gene: C9orf72 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 Phenotypes for gene: C9orf72 were set to clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism; (Hexanucleotideexpansion) |
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Adult onset neurodegenerative disorder v0.2 | ATP1A3 |
Rebecca Foulger gene: ATP1A3 was added gene: ATP1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A3 were set to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 Phenotypes for gene: ATP1A3 were set to Dystonia-12, 128235; Rapid-Onset Dystonia-Parkinsonism |