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Adult onset neurodegenerative disorder v4.47 NAA60 Sarah Leigh changed review comment from: To date, NAA60 variants are not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 38480682 reports six NAA60 variants in six unrelated cases with an autosomal recessive primary familial brain calcification (PFBC). Table 2 in PMID: 38480682 outlines the extent of the calcification seen in the patient's CT scans. Functional studies show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro, and loss of function by the NAA60 variants results in a reduced level of surface SLC20A2, thereby, reducing the extracellular phosphate uptake. The authors conclude, that this study provides a possible biochemical explanation of the involvement of NAA60 variants in PFBC development (PMID: 38480682).
Sources: Literature; to: To date, NAA60 variants are not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 38480682 reports six NAA60 variants in six unrelated cases with an autosomal recessive primary familial brain calcification (PFBC); signs of Parkinsonian presentation was evident in three families reported. Table 2 in PMID: 38480682 outlines the extent of the calcification seen in the patient's CT scans. Functional studies show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro, and loss of function by the NAA60 variants results in a reduced level of surface SLC20A2, thereby, reducing the extracellular phosphate uptake. The authors conclude, that this study provides a possible biochemical explanation of the involvement of NAA60 variants in PFBC development (PMID: 38480682).
Sources: Literature
Adult onset neurodegenerative disorder v4.46 ATXN2_CAG Jemeen Sreedharan reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20740007, 21479228, 21537950, 21562247; Phenotypes: amyotrophic lateral sclerosis, spinocerebellar ataxia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v4.46 PRICKLE1 Arina Puzriakova Phenotypes for gene: PRICKLE1 were changed from Progressive Myoclonus Epilepsy with Ataxia to Epilepsy, progressive myoclonic 1B, OMIM:612437
Adult onset neurodegenerative disorder v4.45 DNAJC7 Sarah Leigh changed review comment from: To date, DNAJC7 variants have not been associated with a phenotype in OMIM, Gen2Phen, Mondo. Numerous DNAJC7 variants have been reported in amyotrophic lateral sclerosis (ALS) patients (PMID: 31768050; 35039179;34233860; 32897108; 37870677; 35456894). ClinGen classifies the gene disease association between DNAJC7 variants and ALS as Limited (27th Oct 2022), because the ALS Gene Curation Expert Panel only scores protein truncating variants in DNAJC7 as part of the gene disease association classification process. In a survey of variants from various international sources, Farhan et al (PMID: 31768050) collated five DNAJC7 truncating variants in ALS patients.; to: To date, DNAJC7 variants have not been associated with a phenotype in OMIM, Gen2Phen or Mondo. Numerous DNAJC7 variants have been reported in amyotrophic lateral sclerosis (ALS) patients (PMID: 31768050; 35039179;34233860; 32897108; 37870677; 35456894). ClinGen classifies the gene disease association between DNAJC7 variants and ALS as Limited (27th Oct 2022), because the ALS Gene Curation Expert Panel only scores protein truncating variants in DNAJC7 as part of the gene disease association classification process. In a survey of variants from various international sources, Farhan et al (PMID: 31768050) collated five DNAJC7 truncating variants in ALS patients.
Adult onset neurodegenerative disorder v4.45 DNAJC7 Sarah Leigh changed review comment from: To date, DNAJC7 variants have not been associated with a phenotype in OMIM, Gen2Phen, Mondo. Numerous DNAJC7 variants have been reported in amyotrophic lateral sclerosis (ALS) patients (PMID: 31768050; 35039179;34233860; 32897108; 37870677; 35456894). ClinGen classifies the gene disease association between DNAJC7 variants and ALS as Limited (27th Oct 2022). This is because the ALS Gene Curation Expert Panel will only score protein truncating variants in DNAJC7 as part of the gene disease association classification process. In a survey of variants from various international sources, Farhan et al (PMID: 31768050) collated five DNAJC7 truncating variants in ALS patients.; to: To date, DNAJC7 variants have not been associated with a phenotype in OMIM, Gen2Phen, Mondo. Numerous DNAJC7 variants have been reported in amyotrophic lateral sclerosis (ALS) patients (PMID: 31768050; 35039179;34233860; 32897108; 37870677; 35456894). ClinGen classifies the gene disease association between DNAJC7 variants and ALS as Limited (27th Oct 2022), because the ALS Gene Curation Expert Panel only scores protein truncating variants in DNAJC7 as part of the gene disease association classification process. In a survey of variants from various international sources, Farhan et al (PMID: 31768050) collated five DNAJC7 truncating variants in ALS patients.
Adult onset neurodegenerative disorder v4.45 DNAJC7 Sarah Leigh edited their review of gene: DNAJC7: Added comment: To date, DNAJC7 variants have not been associated with a phenotype in OMIM, Gen2Phen, Mondo. Numerous DNAJC7 variants have been reported in amyotrophic lateral sclerosis (ALS) patients (PMID: 31768050; 35039179;34233860; 32897108; 37870677; 35456894). ClinGen classifies the gene disease association between DNAJC7 variants and ALS as Limited (27th Oct 2022). This is because the ALS Gene Curation Expert Panel will only score protein truncating variants in DNAJC7 as part of the gene disease association classification process. In a survey of variants from various international sources, Farhan et al (PMID: 31768050) collated five DNAJC7 truncating variants in ALS patients.; Changed rating: GREEN
Adult onset neurodegenerative disorder v4.45 DNAJC7 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
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 v4.39 DAO Hannah Knight reviewed gene: DAO: Rating: AMBER; Mode of pathogenicity: None; Publications: 28430856, 29895397; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v4.37 SS18L1 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v4.37 VRK1 Sarah Leigh reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 SS18L1 Sarah Leigh edited their review of gene: SS18L1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v4.37 SPG7 Sarah Leigh commented on gene: SPG7: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v4.37 SPG21 Sarah Leigh edited their review of gene: SPG21: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 PSAP Sarah Leigh edited their review of gene: PSAP: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v4.37 NEK1 Sarah Leigh edited their review of gene: NEK1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v4.37 GRN Sarah Leigh reviewed gene: GRN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 GBE1 Sarah Leigh edited their review of gene: GBE1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 DNAJB2 Sarah Leigh edited their review of gene: DNAJB2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.36 GRN Sarah Leigh Mode of inheritance for gene GRN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.30 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to}; Early onset ataxia and optic neuropathy to {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Adult onset neurodegenerative disorder v4.28 PPP2R2B_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 NOP56_GGCCTG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 FXN_GAA Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 CSTB_CCCCGCCCCGCG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 CACNA1A_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN3_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN2_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN10_ATTCT Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN1_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN1_CAG Sarah Leigh Deleted their comment
Adult onset neurodegenerative disorder v4.28 ATXN10_ATTCT Sarah Leigh Deleted their comment
Adult onset neurodegenerative disorder v4.28 FXN_GAA Sarah Leigh edited their review of STR: FXN_GAA: Added comment: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.; Changed rating: GREEN
Adult onset neurodegenerative disorder v4.28 PPP2R2B_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 PPP2R2B_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 JPH3_CTG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 CSTB_CCCCGCCCCGCG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 CSTB_CCCCGCCCCGCG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 CACNA1A_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 ATXN3_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 ATXN2_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 ATXN1_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 ATXN10_ATTCT Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 TBP_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 JPH3_CTG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 NOP56_GGCCTG Sarah Leigh reviewed STR: NOP56_GGCCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 PPP2R2B_CAG Sarah Leigh reviewed STR: PPP2R2B_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 CSTB_CCCCGCCCCGCG Sarah Leigh edited their review of STR: CSTB_CCCCGCCCCGCG: Added comment: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; Changed rating: GREEN
Adult onset neurodegenerative disorder v4.28 CACNA1A_CAG Sarah Leigh reviewed STR: CACNA1A_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh reviewed STR: ATXN7_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 ATXN3_CAG Sarah Leigh reviewed STR: ATXN3_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 ATXN2_CAG Sarah Leigh reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 ATXN1_CAG Sarah Leigh reviewed STR: ATXN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 ATXN10_ATTCT Sarah Leigh reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 TBP_CAG Sarah Leigh reviewed STR: TBP_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 JPH3_CTG Sarah Leigh edited their review of STR: JPH3_CTG: Added comment: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; Changed rating: GREEN
Adult onset neurodegenerative disorder v4.28 ATN1_CAG Sarah Leigh reviewed STR: ATN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.26 VRK1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated cases) for this gene to be promoted to GREEN at the next major update.
Adult onset neurodegenerative disorder v4.25 VRK1 Achchuthan Shanmugasundram Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia 1A (#607596) to Pontocerebellar hypoplasia type 1A, OMIM:607596; spinal muscular atrophy, MONDO:0001516; distal hereditary motor neuropathy, MONDO:0018894; familial amyotrophic lateral sclerosis, MONDO:0005144
Adult onset neurodegenerative disorder v4.23 VRK1 Achchuthan Shanmugasundram reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26583493, 31837156, 34169149; Phenotypes: Pontocerebellar hypoplasia type 1A, OMIM:607596, spinal muscular atrophy, MONDO:0001516, distal hereditary motor neuropathy, MONDO:0018894, familial amyotrophic lateral sclerosis, MONDO:0005144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.22 PSAP Sarah Leigh edited their review of gene: PSAP: Added comment: Associated with Parkinson disease 24, autosomal dominant, susceptibility to (OMIM:619491), but not associated with the same condition in Gen2Phen. PMID: 32201884 reports three PSAP variants in three unrelated families with OMIM:619491. Supportive in vitro functional studies were also presented for the reported variants. However, it would appear that there maybe variable expressivity or incomplete penetrance of the Parkinson phenotype, as two variant carrying sibs in Family 2 had extrapyramidal signs, but did not have the full Parkinsons phenotype (PMID: 32201884).; Changed rating: GREEN
Adult onset neurodegenerative disorder v4.22 PSAP Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset neurodegenerative disorder v4.20 GLT8D1 Sarah Leigh reviewed gene: GLT8D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.16 DNAJB2 Sarah Leigh edited their review of gene: DNAJB2: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three unrelated cases (PMID: 22522442, 25274842).; Changed rating: GREEN
Adult onset neurodegenerative disorder v4.16 DNAJB2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset neurodegenerative disorder v4.14 DNAJB2 Sarah Leigh Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 to Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881; young adult-onset distal hereditary motor neuropathy, MONDO:0013947
Adult onset neurodegenerative disorder v4.13 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.13 GBE1 Sarah Leigh reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.10 SS18L1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset neurodegenerative disorder v4.9 SS18L1 Sarah Leigh reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.9 SPG7 Sarah Leigh edited their review of gene: SPG7: Changed publications to: 9635427, 16534102, 17646629, 18200586, 20186691, 22571692
Adult onset neurodegenerative disorder v4.9 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.9 SPG7 Sarah Leigh edited their review of gene: SPG7: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.9 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.9 SPG7 Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.8 SPG7 Sarah Leigh edited their review of gene: SPG7: Changed publications to: 9635427, 16534102, 17646629, 18200586, 20186691, 22571692
Adult onset neurodegenerative disorder v4.8 SPG7 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.
Adult onset neurodegenerative disorder v4.7 SPG7 Sarah Leigh edited their review of gene: SPG7: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be both monoallelic and biallelic, autosomal or pseudoautosomal.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.6 SPG7 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset neurodegenerative disorder v4.5 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Adult onset neurodegenerative disorder v4.3 SPG21 Sarah Leigh edited their review of gene: SPG21: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three unrelated cases (PMIDs: 14564668, 24451228, 28752238), together with a supportive mouse model (PMID: 26978163).; Changed rating: GREEN
Adult onset neurodegenerative disorder v4.3 SPG21 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
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=
Adult onset neurodegenerative disorder v3.57 NEK1 Sarah Leigh edited their review of gene: NEK1: Added comment: 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).; Changed rating: GREEN
Adult onset neurodegenerative disorder v3.57 NEK1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset neurodegenerative disorder v3.49 CST3 Arina Puzriakova reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 TTR Arina Puzriakova reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 TREX1 Arina Puzriakova reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 LAMB1 Arina Puzriakova reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 GSN Arina Puzriakova reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 GLA Arina Puzriakova reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 CTSA Arina Puzriakova reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 COL4A2 Arina Puzriakova reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 COL4A1 Arina Puzriakova reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.49 CLCN2 Arina Puzriakova commented on gene: CLCN2: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v3.49 XK Arina Puzriakova edited their review of gene: XK: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Adult onset neurodegenerative disorder v3.49 STUB1 Arina Puzriakova reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v3.48 STUB1 Arina Puzriakova Source Expert Review Green was added to STUB1.
Mode of inheritance for gene STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v3.48 SOD1 Arina Puzriakova Mode of inheritance for gene SOD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v3.48 FIG4 Arina Puzriakova Mode of inheritance for gene FIG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v3.48 CLCN2 Arina Puzriakova Mode of inheritance for gene CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v3.48 C19orf12 Arina Puzriakova Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v3.47 CST3 Achchuthan Shanmugasundram changed review comment from: There are >3 unrelated cases with relevant phenotype (cerebral amyloid angiopathy) and age of onset is third or fourth decade of life. However, all these cases were identified with the same heterozygous variant in the CST3 gene (p.L68Q) and was from the same Icelandic population. This gene should be rated AMBER in the absence of functional studies on this specific variant, de novo cases with this variant from other populations or existence of other variants causing the same phenotype.; to: There are >3 unrelated cases with relevant phenotype (cerebral amyloid angiopathy) and age of onset is third or fourth decade of life. However, all these cases were identified with the same heterozygous variant in the CST3 gene (p.L68Q) and was from the same Icelandic population. There should be functional studies on this specific variant, de novo cases with this variant from other populations or existence of other variants causing the same phenotype for it to be rated green. Hence, this gene is rated AMBER.
Adult onset neurodegenerative disorder v3.47 CST3 Achchuthan Shanmugasundram Deleted their comment
Adult onset neurodegenerative disorder v3.47 CST3 Achchuthan Shanmugasundram edited their review of gene: CST3: Added comment: There are >3 unrelated cases with relevant phenotype (cerebral amyloid angiopathy) and age of onset is third or fourth decade of life. However, all these cases were identified with the same heterozygous variant in the CST3 gene (p.L68Q) and was from the same Icelandic population. This gene should be rated AMBER in the absence of functional studies on this specific variant, de novo cases with this variant from other populations or existence of other variants causing the same phenotype.; Changed rating: AMBER
Adult onset neurodegenerative disorder v3.45 LAMB1 Sarah Leigh Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, OMIM:615191 to Lissencephaly 5, OMIM:615191; cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Adult onset neurodegenerative disorder v3.36 CTSA Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P.; to: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) in both OMIM and G2P.
Adult onset neurodegenerative disorder v3.36 CTSA Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P.
Adult onset neurodegenerative disorder v3.36 CTSA Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P
Adult onset neurodegenerative disorder v3.35 TTR Achchuthan Shanmugasundram Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; Carpal tunnel syndrome, familial, OMIM:115430
Adult onset neurodegenerative disorder v3.32 TTR Achchuthan Shanmugasundram edited their review of gene: TTR: Added comment: Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with adult-onset reported in patients.

This gene has been associated with relevant phenotypes in OMIM, but not in G2P.; Changed phenotypes to: Amyloidosis, hereditary, transthyretin-related, OMIM:105210, Carpal tunnel syndrome, familial, OMIM:115430
Adult onset neurodegenerative disorder v3.32 TTR Achchuthan Shanmugasundram reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM: 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v3.28 LAMB1 Achchuthan Shanmugasundram reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 5, OMIM:615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v3.25 GSN Achchuthan Shanmugasundram reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, Finnish type, OMIM:105120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v3.22 CST3 Achchuthan Shanmugasundram reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral amyloid angiopathy, OMIM:105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.22 TREX1 Achchuthan Shanmugasundram Phenotypes for gene: TREX1 were changed from Dystonia to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Adult onset neurodegenerative disorder v3.21 TREX1 Achchuthan Shanmugasundram Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v3.19 TREX1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with confirmed cases of adult-onset.

TREX1 has also been associated with relevant phenotypes in both OMIM and G2P.; to: Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with confirmed cases of adult-onset.

TREX1 has also been associated with relevant phenotypes in both OMIM and G2P.
Adult onset neurodegenerative disorder v3.19 TREX1 Achchuthan Shanmugasundram Deleted their comment
Adult onset neurodegenerative disorder v3.19 TREX1 Achchuthan Shanmugasundram commented on gene: TREX1: Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with confirmed cases of adult-onset.

TREX1 has also been associated with relevant phenotypes in both OMIM and G2P.
Adult onset neurodegenerative disorder v3.19 TREX1 Achchuthan Shanmugasundram reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750, Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v3.18 GLA Achchuthan Shanmugasundram Mode of inheritance for gene: GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v3.16 GLA Achchuthan Shanmugasundram reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, OMIM:301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v3.13 COL4A2 Achchuthan Shanmugasundram reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, OMIM:614483, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v3.13 COL4A1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and most patients had adult-onset of disorder.; to: Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and most patients had adult-onset of disorder.

Relevant phenotypes have already been reported in both OMIM and G2P.
Adult onset neurodegenerative disorder v3.13 COL4A1 Achchuthan Shanmugasundram Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, OMIM:175780; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Adult onset neurodegenerative disorder v3.10 COL4A1 Achchuthan Shanmugasundram reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, OMIM:175780, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v3.10 COL4A1 Achchuthan Shanmugasundram Deleted their review
Adult onset neurodegenerative disorder v3.10 COL4A1 Achchuthan Shanmugasundram reviewed gene: COL4A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, OMIM:175780, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:v; Mode of inheritance: None
Adult onset neurodegenerative disorder v3.10 CTSA Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P
Adult onset neurodegenerative disorder v3.10 CTSA Achchuthan Shanmugasundram Phenotypes for gene: CTSA were changed from Cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 to Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551
Adult onset neurodegenerative disorder v3.9 CTSA Achchuthan Shanmugasundram Phenotypes for gene: CTSA were changed from to Cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551
Adult onset neurodegenerative disorder v3.5 CTSA Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P
Adult onset neurodegenerative disorder v3.5 CTSA Achchuthan Shanmugasundram reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27664989, 28702507, 35904593; Phenotypes: cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.5 CST3 Arina Puzriakova Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, OMIM:105150
Adult onset neurodegenerative disorder v3.4 TTR Eleanor Williams reviewed gene: TTR: Rating: ; Mode of pathogenicity: ; Publications: 29779881, 31257920, 34390072, 27466465, 35040071, 25802113, 34663645, 28991667; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.4 LAMB1 Eleanor Williams reviewed gene: LAMB1: Rating: ; Mode of pathogenicity: ; Publications: 34606115; Phenotypes: Cerebral small vessel disease, with leukoencephalopathy and hippocampal memory impairment; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.4 GSN Eleanor Williams reviewed gene: GSN: Rating: ; Mode of pathogenicity: ; Publications: 25097823; Phenotypes: Hereditary gelsolin amyloidosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.4 CST3 Eleanor Williams reviewed gene: CST3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.4 TREX1 Eleanor Williams reviewed gene: TREX1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.4 GLA Eleanor Williams reviewed gene: GLA: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v3.4 COL4A2 Eleanor Williams reviewed gene: COL4A2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain small vessel disease 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.4 COL4A1 Eleanor Williams reviewed gene: COL4A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.4 CTSA Eleanor Williams reviewed gene: CTSA: Rating: ; Mode of pathogenicity: ; Publications: 35904593, 28702507, 27664989; Phenotypes: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v3.2 COG5 Arina Puzriakova Added comment: Comment on mode of inheritance: All cases reported to date have been associated with recessive inheritance with the exception of one family with "one potential heterozygous mutation" reported in 2017 (PMID: 28960046). As no further monoallelic cases have been reported since, updating the MOI from 'both mono- and biallelic' to 'biallelic' only until further evidence emerges supporting pathogenicity of heterozygous variants in this gene.
Adult onset neurodegenerative disorder v3.2 COG5 Arina Puzriakova Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.296 KDM5C Arina Puzriakova Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534
Adult onset neurodegenerative disorder v2.295 GRN Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update.
Adult onset neurodegenerative disorder v2.294 GRN Arina Puzriakova Phenotypes for gene: GRN were changed from Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485; Aphasia, primary progressive, OMIM:607485 to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485; Aphasia, primary progressive, OMIM:607485; Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
Adult onset neurodegenerative disorder v2.292 GRN Arina Puzriakova reviewed gene: GRN: Rating: ; Mode of pathogenicity: None; Publications: 27021778, 28000352, 31855245; Phenotypes: Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485, Aphasia, primary progressive, OMIM:607485, Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.289 STUB1 Eleanor Williams Mode of inheritance for gene: STUB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.288 STUB1 Eleanor Williams Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.287 STUB1 Sarah Leigh reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.284 STUB1 James Polke reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32713943, 33564152, 35493319, 34906452; Phenotypes: Cerebellar Ataxia, Dementia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.284 STUB1 James Polke Deleted their review
Adult onset neurodegenerative disorder v2.284 STUB1 James Polke reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32713943, 33564152; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.282 UQCRC1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804)
Adult onset neurodegenerative disorder v2.280 UQCRC1 Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from 33141179; 33248804 to Parkinsonism with polyneuropathy, OMIM:619279
Adult onset neurodegenerative disorder v2.277 SPTLC1 James Polke gene: SPTLC1 was added
gene: SPTLC1 was added to Neurodegenerative disorders - adult onset. Sources: NHS GMS
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 34059824; 34459874; 35627278; 35900868
Phenotypes for gene: SPTLC1 were set to Juvenile ALS
Penetrance for gene: SPTLC1 were set to Incomplete
Mode of pathogenicity for gene: SPTLC1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: SPTLC1 was set to GREEN
Added comment: SPTLC1 previously associated with HSN1A but variants in these two publications associated with juvenile ALS. 34059824 and 35900868 propose a distinct pathomechanism of juvenile ALS variants (increased sphinganine systhesis) compared to HSN1A variants (shift to deoxysphinganine synthesis). At least 5 different variants now reported, almost all de-novo, but one family in 34059824 with p.Leu39del inherited from father with mild sensorimotor axonal neuropathy. Juvenile onset but inclusion on this adult panel in-line with current inclusion of ALS2 and SETX which also cause early onset ALS.

No evidence that LoF variants cause HSN1A or juvenile ALS - GOF mechanisms demonstrated.
Sources: NHS GMS
Adult onset neurodegenerative disorder v2.277 XK Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated Green at the next major review. Neurodegenerative component resembling Huntington disease becomes apparent in older individuals.
Adult onset neurodegenerative disorder v2.276 XK Arina Puzriakova gene: XK was added
gene: XK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green,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; 8004674
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945
Penetrance for gene: XK were set to Complete
Adult onset neurodegenerative disorder v2.275 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Adult onset neurodegenerative disorder v2.275 NR4A2 Sarah Leigh Phenotypes for gene: NR4A2 were changed from Parkinson Disease, Dominant/Recessive (susceptibility to) to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
Adult onset neurodegenerative disorder v2.274 SLC52A3 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'monoallelic' to 'biallelic' as I could not identify evidence supporting relevance of heterozygous variants in disease. This is consistent with the MOI in OMIM/G2P and other PanelApp panels.
Adult onset neurodegenerative disorder v2.272 C19orf12 Sarah Leigh reviewed gene: C19orf12: Rating: ; Mode of pathogenicity: None; Publications: 29295770, 31087512; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.272 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, OMIM: 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Adult onset neurodegenerative disorder v2.271 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Dystonia; neurodegeneration with brain iron accumulation-4, OMIM:614298 to Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Adult onset neurodegenerative disorder v2.268 CACNA1A_CAG Louise Daugherty reviewed STR: CACNA1A_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.268 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss: The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v2.268 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
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 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Adult onset neurodegenerative disorder v2.267 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Adult onset neurodegenerative disorder v2.267 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Adult onset neurodegenerative disorder v2.264 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Adult onset neurodegenerative disorder v2.264 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Adult onset neurodegenerative disorder v2.264 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.
Adult onset neurodegenerative disorder v2.264 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Adult onset neurodegenerative disorder v2.264 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.
Adult onset neurodegenerative disorder v2.264 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.
Adult onset neurodegenerative disorder v2.263 FIG4 Sarah Leigh commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v2.263 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
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 v2.249 AR Arina Puzriakova Mode of inheritance for gene: AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Adult onset neurodegenerative disorder v2.247 FXN_GAA Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Adult onset neurodegenerative disorder v2.246 FXN Arina Puzriakova Phenotypes for gene: FXN were changed from Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Adult onset neurodegenerative disorder v2.243 PPP2R2B Arina Puzriakova Mode of pathogenicity for gene: PPP2R2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset neurodegenerative disorder v2.242 PPP2R2B Arina Puzriakova Mode of inheritance for gene: PPP2R2B was changed from Unknown to Other
Adult onset neurodegenerative disorder v2.238 TBP Arina Puzriakova Mode of pathogenicity for gene: TBP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset neurodegenerative disorder v2.237 TBP Arina Puzriakova Mode of inheritance for gene: TBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
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 v2.232 FMR1 Arina Puzriakova Phenotypes for gene: FMR1 were changed from FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); males with a tremor phenotype; FragileXtremor/ataxiasyndrome,300623 to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
Adult onset neurodegenerative disorder v2.231 ATXN1 Arina Puzriakova Mode of inheritance for gene: ATXN1 was changed from Unknown to Other
Adult onset neurodegenerative disorder v2.228 JPH3 Arina Puzriakova Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Adult onset neurodegenerative disorder v2.223 CACNA1A Arina Puzriakova Added comment: Comment on mode of inheritance: CACNA1A is associated with several phenotypes including SCA6 (OMIM:183086), episodic ataxia (OMIM:108500), familial hemiplegic migraine with or without ataxia (OMIM:141500), or developmental and epileptic encephalopathy (OMIM:617106). SCA6 is the only condition that may align with this panel; however, it is caused by nucleotide repeat expansions and there is a lack of relevance for SNVs.
Adult onset neurodegenerative disorder v2.223 CACNA1A Arina Puzriakova Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Adult onset neurodegenerative disorder v2.222 CACNA1A Arina Puzriakova Phenotypes for gene: CACNA1A were changed from episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Dystonia; Spinocerebellar ataxia 6; Episodic ataxia, type 2 to Spinocerebellar ataxia 6, OMIM:183086
Adult onset neurodegenerative disorder v2.219 C9orf72 Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Adult onset neurodegenerative disorder v2.215 ATXN7 Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from Unknown to Other
Adult onset neurodegenerative disorder v2.213 ATXN3 Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Adult onset neurodegenerative disorder v2.210 ATXN2 Arina Puzriakova Mode of pathogenicity for gene: ATXN2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset neurodegenerative disorder v2.209 ATXN2 Arina Puzriakova Mode of inheritance for gene: ATXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Adult onset neurodegenerative disorder v2.206 ATXN10 Arina Puzriakova Mode of inheritance for gene: ATXN10 was changed from Unknown to Other
Adult onset neurodegenerative disorder v2.202 ATN1 Arina Puzriakova Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Adult onset neurodegenerative disorder v2.201 FIG4 Sarah Leigh changed review comment from: In with respect to Ian Berry's proposed demotion of FIG4, after reviewing PMID:19118816. Helen Brittain (Genomics England Clinical Fellow) has suggested the rating of this gene should be considered by TEWG oversight committee, as there is a lack of evidence for ALS.; to: Q4_21_expert_review tag has been added to this gene. Helen Brittain (Genomics England Clinical Fellow) has suggested that the rating of this gene should be considered by TEWG oversight committee, in response to Ian Berry's proposed demotion of FIG4, after reviewing PMID:19118816, which shows a lack of evidence for ALS.
Adult onset neurodegenerative disorder v2.201 FIG4 Sarah Leigh edited their review of gene: FIG4: Added comment: In with respect to Ian Berry's proposed demotion of FIG4, after reviewing PMID:19118816. Helen Brittain (Genomics England Clinical Fellow) has suggested the rating of this gene should be considered by TEWG oversight committee, as there is a lack of evidence for ALS.; Changed rating: AMBER
Adult onset neurodegenerative disorder v2.200 CLCN2 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'Both mono- and biallelic' to 'Biallelic' only. Features of neurodegeneration are seen in CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes are relevant to this panel.
Adult onset neurodegenerative disorder v2.200 CLCN2 Arina Puzriakova Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.199 CLCN2 Arina Puzriakova Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628; Leukoencephalopathy with ataxia, OMIM:615651 to Leukoencephalopathy with ataxia, OMIM:615651
Adult onset neurodegenerative disorder v2.195 SOD1 Ivone Leong reviewed gene: SOD1: Rating: ; Mode of pathogenicity: None; Publications: 7647793, 9817920, 7647793, 18608106, 10809943, 12442272, 11284995, 11127534, 23062701, 11220750; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.192 WDR45B Arina Puzriakova Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Adult onset neurodegenerative disorder v2.189 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from Dystonia; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDEL syndrome; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
Adult onset neurodegenerative disorder v2.187 FIG4 Sarah Leigh changed review comment from: The Q3_21_MOI tag has been added as Amyotrophic lateral sclerosis 11 (OMIM:612577) is monoallelic Charcot-Marie-Tooth disease, type 4J (OMIM:611228) is biallelic.; to: The Q3_21_MOI tag has been added as Amyotrophic lateral sclerosis 11 (OMIM:612577) is monoallelic and Charcot-Marie-Tooth disease, type 4J (OMIM:611228) is biallelic, therefore the mode of inheritance should be - BOTH monoallelic and biallelic, autosomal or pseudoautosomal for this gene on this panel.
Adult onset neurodegenerative disorder v2.183 SORL1 Sarah Leigh Added comment: Comment on list classification: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The cited publications give evidence for a role for SORL1 in the development of Alzheimers disease (PMIDs 28537274; 22472873; 28595629; 32587946).
Adult onset neurodegenerative disorder v2.182 FIG4 Sarah Leigh commented on gene: FIG4: The Q3_21_MOI tag has been added as Amyotrophic lateral sclerosis 11 (OMIM:612577) is monoallelic Charcot-Marie-Tooth disease, type 4J (OMIM:611228) is biallelic.
Adult onset neurodegenerative disorder v2.182 FIG4 Sarah Leigh edited their review of gene: FIG4: Added comment: Associated with relevant phenotype in OMIM, but not associated with Amyotrophic lateral sclerosis 11 (OMIM:612577) or Charcot-Marie-Tooth disease, type 4J (OMIM:611228) in Gen2Phen. At least three variants reported in three cases of Amyotrophic lateral sclerosis 11 (OMIM:612577)(PMID: 19118816), and two variants in at least one case of Charcot-Marie-Tooth disease, type 4J (OMIM:611228)(PMID: 21705420).; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.182 FIG4 Sarah Leigh Added comment: Comment on phenotypes: Amyotrophic lateral sclerosis 11 OMIM:612577 is associated with this panel (Neurodegenerative disorders - adult onset) as it is an adult onset condition. Charcot-Marie-Tooth disease, type 4J, 611228 is predominantly a childhood condition, however, some adult cases have been reported (PMID: 21705420).
Adult onset neurodegenerative disorder v2.182 FIG4 Sarah Leigh Phenotypes for gene: FIG4 were changed from Amyotrophic lateral sclerosis 11, OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640 to Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640
Adult onset neurodegenerative disorder v2.180 FIG4 Sarah Leigh Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Amyotrophic lateral sclerosis 11, OMIM:612577 to Amyotrophic lateral sclerosis 11, OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640
Adult onset neurodegenerative disorder v2.179 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34169149, 26583493, 31837156; Phenotypes: Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.177 KIF1A Arina Puzriakova Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.175 XRCC1 Arina Puzriakova Phenotypes for gene: XRCC1 were changed from ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
Adult onset neurodegenerative disorder v2.174 SORL1 James Polke gene: SORL1 was added
gene: SORL1 was added to Neurodegenerative disorders - adult onset. Sources: NHS GMS
Mode of inheritance for gene: SORL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SORL1 were set to 28537274; 22472873; 28595629; 32587946
Phenotypes for gene: SORL1 were set to Alzheimer's Disease
Penetrance for gene: SORL1 were set to unknown
Review for gene: SORL1 was set to AMBER
Added comment: Proposed as an amber gene. A published risk locus for late onset Alzheimer's. Some case studies propose a cause of familial early onset AD, though insufficient cases/segregation at present.
Sources: NHS GMS
Adult onset neurodegenerative disorder v2.174 FIG4 Ian Berry reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19118816; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v2.174 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
Adult onset neurodegenerative disorder v2.174 PLA2G6 Arina Puzriakova Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1, OMIM:256600; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Parkinson disease 14, OMIM:612953 to Parkinson disease 14, autosomal recessive, OMIM:612953; Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Adult onset neurodegenerative disorder v2.172 TUBB4A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Leukodystrophy, hypomyelinating, 6 612438;?Dystonia 4, torsion, autosomal dominant, 128101;hypomyelinating leukodystrophy 6;Implicated autosomal dominant variants in two families with ataxia;Dystonia;Torsion dystonia 4 (128101) - some individuals with ataxia;ataxia;hereditary whispering dysphonia;Complex parkinsonism;hypomyelinating leukodystrophy 6 (612438) - ataxia reported.;Dystonia 4, torsion, autosomal dominant 128101
Adult onset neurodegenerative disorder v2.172 TUBB4A Ivone Leong Phenotypes for gene: TUBB4A were changed from Leukodystrophy, hypomyelinating, 6 612438; ?Dystonia 4, torsion, autosomal dominant, 128101; hypomyelinating leukodystrophy 6; Implicated autosomal dominant variants in two families with ataxia; Dystonia; Torsion dystonia 4 (128101) - some individuals with ataxia; ataxia; hereditary whispering dysphonia; Complex parkinsonism; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Dystonia 4, torsion, autosomal dominant 128101 to Leukodystrophy, hypomyelinating, 6, OMIM:612438; Dystonia 4, torsion, autosomal dominant, OMIM:128101
Adult onset neurodegenerative disorder v2.171 TUBA4A Ivone Leong Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
Adult onset neurodegenerative disorder v2.165 SLC30A10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease;Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Adult onset neurodegenerative disorder v2.165 SLC30A10 Ivone Leong Phenotypes for gene: SLC30A10 were changed from hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease to Hypermanganesemia with dystonia 1, OMIM:613280
Adult onset neurodegenerative disorder v2.158 HNRNPA2B1 Ivone Leong Phenotypes for gene: HNRNPA2B1 were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976; ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
Adult onset neurodegenerative disorder v2.147 ATP6AP2 Ivone Leong Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 to ?Parkinsonism with spasticity, X-linked, OMIM:300911; Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423
Adult onset neurodegenerative disorder v2.143 XPR1 Ivone Leong Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, OMIM:605237
Adult onset neurodegenerative disorder v2.142 WDR45 Ivone Leong Phenotypes for gene: WDR45 were changed from Dystonia; beta-propeller protein-associated neurodegeneration to Dystonia; Neurodegeneration with brain iron accumulation 5, OMIM:300894
Adult onset neurodegenerative disorder v2.140 VPS13A Ivone Leong Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis, OMIM:200150 to Choreoacanthocytosis, OMIM:200150
Adult onset neurodegenerative disorder v2.139 VPS13A Ivone Leong Phenotypes for gene: VPS13A were changed from complex parkinsonism; Complex parkinsonism; 200150; Choreoacanthocytosis to Choreoacanthocytosis, OMIM:200150
Adult onset neurodegenerative disorder v2.138 VCP Ivone Leong Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; familial amyotrophic lateral sclerosis (ALS14); Amyotrophic Lateral Sclerosis, Dominant to Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
Adult onset neurodegenerative disorder v2.136 UBQLN2 Ivone Leong Phenotypes for gene: UBQLN2 were changed from Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857
Adult onset neurodegenerative disorder v2.135 TYROBP Ivone Leong Phenotypes for gene: TYROBP were changed from Dementia to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770
Adult onset neurodegenerative disorder v2.133 TREM2 Ivone Leong Phenotypes for gene: TREM2 were changed from Dementia; Dystonia to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193; Dystonia
Adult onset neurodegenerative disorder v2.130 TARDBP Ivone Leong Phenotypes for gene: TARDBP were changed from Amyotrophic Lateral Sclerosis, Dominant; Frontotemporal Dementia; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 to Amyotrophic lateral sclerosis 10, with or without FTD, OMIM:612069
Adult onset neurodegenerative disorder v2.124 SNCA Ivone Leong Phenotypes for gene: SNCA were changed from Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Parkinson disease 4, 605543; Parkinson disease 1, 168601; Dementia, Lewy body, 127750 to Parkinson disease 4, OMIM:605543; Parkinson disease 1, OMIM:168601; Dementia, Lewy body, OMIM:127750
Adult onset neurodegenerative disorder v2.123 SLC20A2 Ivone Leong Phenotypes for gene: SLC20A2 were changed from Dystonia; Basal ganglia calcification, idiopathic, 1, 158378 to Dystonia; Basal ganglia calcification, idiopathic, 1, OMIM:158378
Adult onset neurodegenerative disorder v2.122 SETX Ivone Leong Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Adult onset neurodegenerative disorder v2.119 PSEN1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Acne inversa, familial, 3, 613737;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822;Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques;Dystonia;Dementia, frontotemporal, 600274;Pick disease, 172700;Clinical syndrome Alzheimer disease;Alzheimer disease, type 3, 607822;Cardiomyopathy, dilated, 1U, 613694;Alzheimer disease, type 3, with spastic paraparesis and apraxia
Adult onset neurodegenerative disorder v2.119 PSEN1 Ivone Leong Phenotypes for gene: PSEN1 were changed from Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Dystonia; Dementia, frontotemporal, 600274; Pick disease, 172700; Clinical syndrome Alzheimer disease; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with spastic paraparesis and apraxia to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822; Dystonia; Dementia, frontotemporal, OMIM:600274; Pick disease, OMIM:172700; Alzheimer disease, type 3, OMIM:607822
Adult onset neurodegenerative disorder v2.116 PLA2G6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile neuroaxonal dystrophy 1, 256600;PLA2G6-associated neurodegeneration;Neurodegeneration with brain iron accumulation 2B, 610217;Infantile neuroaxonal dystrophy 1 (#256600);Neurodegeneration with brain iron accumulation 2B (#610217);Parkinson disease 14 (#612953);Parkinson disease 14, 612953;Early Onset Complex Disease
Adult onset neurodegenerative disorder v2.116 PLA2G6 Ivone Leong Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1, 256600; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217); Parkinson disease 14 (#612953); Parkinson disease 14, 612953; Early Onset Complex Disease to Infantile neuroaxonal dystrophy 1, OMIM:256600; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Parkinson disease 14, OMIM:612953
Adult onset neurodegenerative disorder v2.113 PDGFRB Ivone Leong Phenotypes for gene: PDGFRB were changed from Dystonia; Basal ganglia calcification, idiopathic, 4, 615007 to Dystonia; Basal ganglia calcification, idiopathic, 4, OMIM:615007
Adult onset neurodegenerative disorder v2.112 PDGFB Ivone Leong Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Adult onset neurodegenerative disorder v2.110 PANK2 Ivone Leong Phenotypes for gene: PANK2 were changed from Dystonia; Neurodegeneration with brain iron accumulation 1; 234200; Early Onset Complex Disease; pantothenate kinase-associated neurodegeneration to Dystonia; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Adult onset neurodegenerative disorder v2.109 OPTN Ivone Leong Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; Amyotrophic Lateral Sclerosis, Recessive to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435
Adult onset neurodegenerative disorder v2.106 NOTCH3 Ivone Leong Phenotypes for gene: NOTCH3 were changed from Dementia to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Adult onset neurodegenerative disorder v2.104 MAPT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Dementia, frontotemporal, with or without parkinsonism, 600274;Supranuclear palsy, progressive, OMIM:601104;clinical presentation suggestive of cortico-basal/PSP syndrome;Parkinson disease, susceptibility to}, OMIM:168600;Pick disease, OMIM:172700;Clinical syndrome FTLD (Frontotemporal lobar degeneration);Supranuclear palsy, progressive atypical, OMIM:260540
Adult onset neurodegenerative disorder v2.104 MAPT Ivone Leong Phenotypes for gene: MAPT were changed from Dementia, frontotemporal, with or without parkinsonism, 600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Supranuclear palsy, progressive atypical, 260540 to Dementia, frontotemporal, with or without parkinsonism, OMIM:600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Supranuclear palsy, progressive atypical, 260540
Adult onset neurodegenerative disorder v2.103 LYST Ivone Leong Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia to Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; spastic paraplegia
Adult onset neurodegenerative disorder v2.102 LYST Ivone Leong Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia to Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia
Adult onset neurodegenerative disorder v2.99 KIAA1161 Ivone Leong Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Adult onset neurodegenerative disorder v2.94 HTRA1 Ivone Leong Phenotypes for gene: HTRA1 were changed from Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 to dementia (disease), MONDO:0001627; CARASIL syndrome, OMIM:600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, OMIM:616779
Adult onset neurodegenerative disorder v2.93 HNRNPA1 Ivone Leong Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3, OMIM:615424, Amyotrophic lateral sclerosis 20, OMIM:615426
Adult onset neurodegenerative disorder v2.90 GRN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
clinical presentation suggestive of cortico-basal/PSP syndrome;Complex parkinsonism;Frontotemporal Dementia;frontotemporal lobar degeneration with TDP43 inclusions;Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Adult onset neurodegenerative disorder v2.90 GRN Ivone Leong Phenotypes for gene: GRN were changed from clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; Frontotemporal Dementia; frontotemporal lobar degeneration with TDP43 inclusions; Clinical syndrome FTLD (Frontotemporal lobar degeneration) to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485; Aphasia, primary progressive, OMIM:607485
Adult onset neurodegenerative disorder v2.88 GCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Dopa-Responsive Dystonia (DRD);progressive spastic paraplegia;Dystonia;Hyperphenylalaninemia, BH4-deficient, B, 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Spastic paraplegia
Adult onset neurodegenerative disorder v2.88 GCH1 Ivone Leong Phenotypes for gene: GCH1 were changed from Dopa-Responsive Dystonia (DRD); progressive spastic paraplegia; Dystonia; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Spastic paraplegia to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230; Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910; Spastic paraplegia
Adult onset neurodegenerative disorder v2.86 FUS Ivone Leong Phenotypes for gene: FUS were changed from Dementia; Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal; Amyotrophic Lateral Sclerosis, Dominant to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030
Adult onset neurodegenerative disorder v2.85 FTL Ivone Leong Phenotypes for gene: FTL were changed from Neurodegeneration with brain iron accumulation 3; movement disorder to Neurodegeneration with brain iron accumulation 3, OMIM:606159
Adult onset neurodegenerative disorder v2.83 FIG4 Ivone Leong Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic Lateral Sclerosis, Dominant to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Amyotrophic lateral sclerosis 11, OMIM:612577
Adult onset neurodegenerative disorder v2.79 EIF2B5 Ivone Leong Phenotypes for gene: EIF2B5 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.78 EIF2B4 Ivone Leong Phenotypes for gene: EIF2B4 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.77 EIF2B3 Ivone Leong Phenotypes for gene: EIF2B3 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.76 EIF2B2 Ivone Leong Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896 to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.75 EIF2B1 Ivone Leong Phenotypes for gene: EIF2B1 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.73 DNMT1 Ivone Leong Phenotypes for gene: DNMT1 were changed from Dementia, Deafness, and Sensory Neuropathy; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM; 604121
Adult onset neurodegenerative disorder v2.70 DCTN1 Ivone Leong Phenotypes for gene: DCTN1 were changed from Neuropathy, distal hereditary motor, type VIIB, 607641; Perry syndrome; Neuropathy, distal hereditary motor, type VIIB; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400 to Neuropathy, distal hereditary motor, type VIIB, OMIM:607641; Perry syndrome, OMIM:168605; {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400
Adult onset neurodegenerative disorder v2.68 DARS2 Ivone Leong Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Adult onset neurodegenerative disorder v2.66 CYP27A1 Ivone Leong Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, OMIM:213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Adult onset neurodegenerative disorder v2.64 CSF1R Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy;Dementia;diffuse leukoencephalopathy with spheroids
Adult onset neurodegenerative disorder v2.64 CSF1R Ivone Leong Phenotypes for gene: CSF1R were changed from dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Dementia; diffuse leukoencephalopathy with spheroids to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Adult onset neurodegenerative disorder v2.62 COASY Ivone Leong Phenotypes for gene: COASY were changed from COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6, OMIM:615643
Adult onset neurodegenerative disorder v2.60 CLCN2 Ivone Leong Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; Leukoencephalopathy with ataxia, 615651 to {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628; Leukoencephalopathy with ataxia, OMIM:615651
Adult onset neurodegenerative disorder v2.57 CHCHD2 Ivone Leong Publications for gene: CHCHD2 were set to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114; 26705026; 26067110
Adult onset neurodegenerative disorder v2.56 CHCHD10 Ivone Leong Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 to ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Adult onset neurodegenerative disorder v2.53 C19orf12 Ivone Leong Phenotypes for gene: C19orf12 were changed from mitochondrial membrane protein-associated neurodegeneration; Dystonia; neurodegeneration with brain iron accumulation-4; Neurodegeneration with brain iron accumulation 4 to Dystonia; neurodegeneration with brain iron accumulation-4, OMIM:614298
Adult onset neurodegenerative disorder v2.48 APP Ivone Leong Phenotypes for gene: APP were changed from Alzheimer disease 1, familial OMIM:104300; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants OMIM:605714 to Alzheimer disease 1, familial, OMIM:104300; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714
Adult onset neurodegenerative disorder v2.42 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSAP were set to 32201884
Phenotypes for gene: PSAP were set to Parkinson disease, AD
Review for gene: PSAP was set to GREEN
Added comment: Well established gene-disease association for bi-allelic variants.

Now early-onset PD reported with mono-allelic variants. 6 affecteds from 3 families. Age of onset ranges from 33-60. Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration.
Sources: Literature
Adult onset neurodegenerative disorder v2.42 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants reported in three unrelated cases of Amyotrophic lateral sclerosis 19.; Changed rating: GREEN
Adult onset neurodegenerative disorder v2.42 ERBB4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
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 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 v2.38 APP Sarah Leigh Phenotypes for gene: APP were changed from Clinical syndrome Alzheimer disease; Dementia to Alzheimer disease 1, familial OMIM:104300; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants OMIM:605714
Adult onset neurodegenerative disorder v2.37 UQCRC1 Zornitza Stark gene: UQCRC1 was added
gene: UQCRC1 was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UQCRC1 were set to 33141179; 33248804
Phenotypes for gene: UQCRC1 were set to 33141179; 33248804
Review for gene: UQCRC1 was set to AMBER
Added comment: Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort.
Sources: Literature
Adult onset neurodegenerative disorder v2.35 AARS Arina Puzriakova Phenotypes for gene: AARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Adult onset neurodegenerative disorder v2.30 PPP2R2B_CAG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.29 NOP56_GGCCTG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.28 FXN_GAA Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.27 CSTB_CCCCGCCCCGCG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.26 CACNA1A_CAG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.25 ATXN7_CAG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.24 ATXN3_CAG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.23 ATXN2_CAG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.22 ATXN1_CAG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.21 ATXN10_ATTCT Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.20 JPH3_CTG Arina Puzriakova Added comment: Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Adult onset neurodegenerative disorder v2.19 TBP_CAG Arina Puzriakova Added comment: Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Adult onset neurodegenerative disorder v2.18 ATN1_CAG Arina Puzriakova Added comment: Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
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 SS18L1 Zornitza Stark reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25888396, 24360741, 23708140, 30976389; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v2.16 SPG7 Zornitza Stark reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16765570, 19364936; Phenotypes: Spastic paraplegia 7, autosomal recessive MIM#607259; Mode of inheritance: None; Current diagnostic: yes
Adult onset neurodegenerative disorder v2.16 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31768050, 26945885, 27455347, 29929116; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v2.16 GLT8D1 Zornitza Stark gene: GLT8D1 was added
gene: GLT8D1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: GLT8D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLT8D1 were set to 30811981
Phenotypes for gene: GLT8D1 were set to Amyotrophic lateral sclerosis
Review for gene: GLT8D1 was set to GREEN
gene: GLT8D1 was marked as current diagnostic
Added comment: 14 ALS cases with heterozygous missense (10 cases with p.R92C), and supporting in vitro functional assays and zebrafish model.
Sources: Expert list
Adult onset neurodegenerative disorder v2.16 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 20301758; 26194201
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570
Review for gene: GBE1 was set to GREEN
Added comment: APBD can have upper and lower motor neuron involvement, and at least 5 cases in a cohort of 30 were misdiagnosed with ALS.
Sources: Expert list
Adult onset neurodegenerative disorder v2.16 ERBB4 Zornitza Stark reviewed gene: ERBB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28889094; Phenotypes: Amyotrophic lateral sclerosis 19, 615515; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v2.16 SPG21 Zornitza Stark reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 24451228, 28752238, 26978163; Phenotypes: Mast syndrome, MIM# 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.16 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278385, 21981780, 23269600; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Adult onset neurodegenerative disorder v2.15 DNMT1 Eleanor Williams reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.14 NOTCH3 Eleanor Williams reviewed gene: NOTCH3: Rating: ; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.14 TET2 Eleanor Williams gene: TET2 was added
gene: TET2 was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: TET2 was set to Unknown
Publications for gene: TET2 were set to 31943063
Added comment: PMID: 31943063 - Li et al 2020 - functional studies in mice show that Tet2 depletion in the hippocampus exacerbates Alzheimer disease pathology and cognitive dysfunction at early disease stages
Sources: Literature
Adult onset neurodegenerative disorder v2.12 CHCHD10 Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.12 ISCA-37478-Gain Arina Puzriakova changed review comment from: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.; to: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Removed as testing for this region is not achievable using currently available methodology.
Adult onset neurodegenerative disorder v2.12 ISCA-37468-Loss Arina Puzriakova changed review comment from: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.; to: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Removed as testing for this region is not achievable using currently available methodology.
Adult onset neurodegenerative disorder v2.12 ISCA-37404-Loss Arina Puzriakova changed review comment from: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.; to: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Removed as testing for this region is not achievable using currently available methodology.
Adult onset neurodegenerative disorder v2.12 ISCA-37478-Loss Arina Puzriakova changed review comment from: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.; to: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Removed as testing for this region is not achievable using currently available methodology.
Adult onset neurodegenerative disorder v2.8 ISCA-37478-Loss Arina Puzriakova Added comment: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.
Adult onset neurodegenerative disorder v2.8 ISCA-37478-Loss Arina Puzriakova Region: isca-37478-loss has been removed from the panel.
Adult onset neurodegenerative disorder v2.7 ISCA-37478-Gain Arina Puzriakova Added comment: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.
Adult onset neurodegenerative disorder v2.7 ISCA-37478-Gain Arina Puzriakova Region: isca-37478-gain has been removed from the panel.
Adult onset neurodegenerative disorder v2.6 ISCA-37404-Loss Arina Puzriakova Added comment: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.
Adult onset neurodegenerative disorder v2.6 ISCA-37404-Loss Arina Puzriakova Region: isca-37404-loss has been removed from the panel.
Adult onset neurodegenerative disorder v2.5 ISCA-37468-Loss Arina Puzriakova Added comment: Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop.
Adult onset neurodegenerative disorder v2.5 ISCA-37468-Loss Arina Puzriakova Region: isca-37468-loss has been removed from the panel.
Adult onset neurodegenerative disorder v2.3 APP alisdair mcneill reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.117 TAF1 Louise Daugherty changed review comment from: Comment on list classification: Prior to GLH sign off for this panel, TAF1 was discussed further by the specialist test group. It was raised by WWMGLH that the gene should be downgraded from Green to Red as they were not sure if the pipeline could detect the alu-like insertion variant - and no other variants reported in HGMDPro in association with Dystonia-Parkinsonism. However, further correspondence from LNGLH Huw Morris suggested Amber rating - as per movement disorders on PanelApp. Noting that the genetic aetiology of this disorder is complex and not fully understood; to: Comment on list classification: Prior to GLH sign off for this panel, TAF1 was discussed further by the specialist test group. It was raised by WWMGLH that the gene should be downgraded from Green to Red as they were not sure if the pipeline could detect the alu-like insertion variant - and no other variants reported in HGMDPro in association with Dystonia-Parkinsonism. However, further correspondence from LNGLH Huw Morris suggested an Amber rating - as per movement disorders on PanelApp. Noting that the genetic aetiology of this disorder is complex and not fully understood.
Adult onset neurodegenerative disorder v1.117 TAF1 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, TAF1 was discussed further by the specialist test group. It was raised by WWMGLH that the gene should be downgraded from Green to Red as they were not sure if the pipeline could detect the alu-like insertion variant - and no other variants reported in HGMDPro in association with Dystonia-Parkinsonism. However, further correspondence from LNGLH Huw Morris suggested Amber rating - as per movement disorders on PanelApp. Noting that the genetic aetiology of this disorder is complex and not fully understood
Adult onset neurodegenerative disorder v1.116 MARS2 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, MARS2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to upgrade this gene to Amber as the the evidence of a primary phenotype associated with this indication (dementia/ALS/Parkinsonism), was not strong enough to rate MARS2 Green. The difficulty of detecting the rearrangements by WGS was also raised so agreed to make Amber
Adult onset neurodegenerative disorder v1.115 ITM2B Louise Daugherty commented on gene: ITM2B: Prior to GLH sign off for this panel, ITM2B was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to keep this gene Green.

It was highlighted that two fs variants and one missense rated red on HGMDpro - missense likely pathogenic using in silico tools only. Second amber rated missense in association with dementia. Only 2 cases with segregation - so it was suggested the gene should be Amber not Green. However, further feedback confirmed the Green rating as it was noted that this is rare, but there are a couple of families with a stop-loss mutation in this gene reported in one of the labs, so should remain green.
Adult onset neurodegenerative disorder v1.115 DAB1 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red
Adult onset neurodegenerative disorder v1.114 DAB1 Louise Daugherty Deleted their comment
Adult onset neurodegenerative disorder v1.114 DAB1 Louise Daugherty changed review comment from: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red; to: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red
Adult onset neurodegenerative disorder v1.114 DAB1 Louise Daugherty commented on gene: DAB1: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red
Adult onset neurodegenerative disorder v1.114 CLP1 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, CLP1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. Pontocerebellar hypoplasia type 10 - childhood onset so red.
Adult onset neurodegenerative disorder v1.113 ATP8A2 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. It was noted that it is assoicated to cerebellar ataxia, MR and dysequilibrium syndrome type 4. Guissart et al 2019 J Neuro PMID: 31612321 - plus review of 26 previously reported cases. All have onset in childhood – so recommended Red
Adult onset neurodegenerative disorder v1.111 ATP8A2 Louise Daugherty changed review comment from: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.; to: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. ATP8A2 Cerebellar ataxia, MR and dysequilibrium syndrome type 4. Guissart et al 2019 J Neuro PMID: 31612321 - plus review of 26 previously reported cases. All have onset in childhood- red
Adult onset neurodegenerative disorder v1.111 ATP8A2 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.
Adult onset neurodegenerative disorder v1.110 ARX Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, ARX was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.
Adult onset neurodegenerative disorder v1.109 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Prior to GLH sign off for this panel, AP5Z1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to keep this gene rated as Amber because there can be Parkinsonism and cognitive impairment, but not Green as not primary phenotype.
Adult onset neurodegenerative disorder v1.109 Louise Daugherty removed STR:ATXN1_ATTCT from the panel
Adult onset neurodegenerative disorder v1.108 Louise Daugherty removed STR:ATXN10_CAG from the panel
Adult onset neurodegenerative disorder v1.106 ZFYVE26 Louise Daugherty edited their review of gene: ZFYVE26: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 YY1 Louise Daugherty edited their review of gene: YY1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 WWOX Louise Daugherty edited their review of gene: WWOX: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 WFS1 Louise Daugherty edited their review of gene: WFS1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 WDR81 Louise Daugherty edited their review of gene: WDR81: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 WDR73 Louise Daugherty edited their review of gene: WDR73: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 WDR45B Louise Daugherty edited their review of gene: WDR45B: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 WDR45 Louise Daugherty edited their review of gene: WDR45: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 WASHC5 Louise Daugherty edited their review of gene: WASHC5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 VRK1 Louise Daugherty edited their review of gene: VRK1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 VPS13D Louise Daugherty edited their review of gene: VPS13D: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 VPS13C Louise Daugherty commented on gene: VPS13C: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 VLDLR Louise Daugherty edited their review of gene: VLDLR: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 VAMP1 Louise Daugherty edited their review of gene: VAMP1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 VAC14 Louise Daugherty edited their review of gene: VAC14: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TWNK Louise Daugherty edited their review of gene: TWNK: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TUBB4A Louise Daugherty commented on gene: TUBB4A: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 TUBA4A Louise Daugherty commented on gene: TUBA4A: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 TTPA Louise Daugherty edited their review of gene: TTPA: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TTC19 Louise Daugherty edited their review of gene: TTC19: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 TTBK2 Louise Daugherty edited their review of gene: TTBK2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TSEN54 Louise Daugherty edited their review of gene: TSEN54: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TSEN2 Louise Daugherty edited their review of gene: TSEN2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TPP1 Louise Daugherty edited their review of gene: TPP1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TOR1A Louise Daugherty edited their review of gene: TOR1A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 THAP1 Louise Daugherty edited their review of gene: THAP1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TH Louise Daugherty edited their review of gene: TH: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TGM6 Louise Daugherty edited their review of gene: TGM6: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TAF15 Louise Daugherty edited their review of gene: TAF15: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 TAF1 Louise Daugherty edited their review of gene: TAF1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 SYNE1 Louise Daugherty edited their review of gene: SYNE1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 STUB1 Louise Daugherty edited their review of gene: STUB1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SS18L1 Louise Daugherty commented on gene: SS18L1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 SRD5A3 Louise Daugherty edited their review of gene: SRD5A3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SPTBN2 Louise Daugherty edited their review of gene: SPTBN2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SPR Louise Daugherty edited their review of gene: SPR: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SPG7 Louise Daugherty edited their review of gene: SPG7: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SPG21 Louise Daugherty edited their review of gene: SPG21: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SPART Louise Daugherty edited their review of gene: SPART: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SNX14 Louise Daugherty edited their review of gene: SNX14: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SNCB Louise Daugherty commented on gene: SNCB: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 SLC9A6 Louise Daugherty edited their review of gene: SLC9A6: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC6A5 Louise Daugherty edited their review of gene: SLC6A5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC6A3 Louise Daugherty edited their review of gene: SLC6A3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC52A3 Louise Daugherty edited their review of gene: SLC52A3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC52A2 Louise Daugherty edited their review of gene: SLC52A2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC39A14 Louise Daugherty edited their review of gene: SLC39A14: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC30A10 Louise Daugherty commented on gene: SLC30A10: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 SLC2A1 Louise Daugherty edited their review of gene: SLC2A1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC25A46 Louise Daugherty edited their review of gene: SLC25A46: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC1A4 Louise Daugherty edited their review of gene: SLC1A4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC1A3 Louise Daugherty edited their review of gene: SLC1A3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SLC16A2 Louise Daugherty edited their review of gene: SLC16A2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SIL1 Louise Daugherty edited their review of gene: SIL1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 SGCE Louise Daugherty edited their review of gene: SGCE: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SERAC1 Louise Daugherty edited their review of gene: SERAC1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SEPSECS Louise Daugherty edited their review of gene: SEPSECS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SCN8A Louise Daugherty edited their review of gene: SCN8A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SCN1A Louise Daugherty edited their review of gene: SCN1A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SAR1B Louise Daugherty edited their review of gene: SAR1B: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 SACS Louise Daugherty edited their review of gene: SACS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 RTN2 Louise Daugherty edited their review of gene: RTN2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 RNF170 Louise Daugherty edited their review of gene: RNF170: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 REEP2 Louise Daugherty edited their review of gene: REEP2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 REEP1 Louise Daugherty edited their review of gene: REEP1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 RARS2 Louise Daugherty edited their review of gene: RARS2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 RAB39B Louise Daugherty edited their review of gene: RAB39B: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PRRT2 Louise Daugherty edited their review of gene: PRRT2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PRPH Louise Daugherty commented on gene: PRPH: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 PRKRA Louise Daugherty commented on gene: PRKRA: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 PRKCG Louise Daugherty edited their review of gene: PRKCG: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 POLR3A Louise Daugherty edited their review of gene: POLR3A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 POLG Louise Daugherty edited their review of gene: POLG: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PNPLA6 Louise Daugherty edited their review of gene: PNPLA6: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PNKP Louise Daugherty edited their review of gene: PNKP: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PNKD Louise Daugherty edited their review of gene: PNKD: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PMPCA Louise Daugherty edited their review of gene: PMPCA: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PLP1 Louise Daugherty edited their review of gene: PLP1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PEX16 Louise Daugherty edited their review of gene: PEX16: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PDYN Louise Daugherty edited their review of gene: PDYN: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 PAX6 Louise Daugherty edited their review of gene: PAX6: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 OPHN1 Louise Daugherty edited their review of gene: OPHN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 OPA3 Louise Daugherty edited their review of gene: OPA3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 NT5C2 Louise Daugherty edited their review of gene: NT5C2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 NR4A2 Louise Daugherty commented on gene: NR4A2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 NOTCH3 Louise Daugherty edited their review of gene: NOTCH3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 NKX6-2 Louise Daugherty edited their review of gene: NKX6-2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 NIPA1 Louise Daugherty edited their review of gene: NIPA1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 NEK1 Louise Daugherty commented on gene: NEK1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 NEFH Louise Daugherty edited their review of gene: NEFH: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 MTTP Louise Daugherty edited their review of gene: MTTP: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 MT-ATP6 Louise Daugherty edited their review of gene: MT-ATP6: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 MRE11 Louise Daugherty edited their review of gene: MRE11: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 MMACHC Louise Daugherty edited their review of gene: MMACHC: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 MECR Louise Daugherty edited their review of gene: MECR: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 MATR3 Louise Daugherty commented on gene: MATR3: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 MARS2 Louise Daugherty edited their review of gene: MARS2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 MAG Louise Daugherty edited their review of gene: MAG: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 L1CAM Louise Daugherty edited their review of gene: L1CAM: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KMT2B Louise Daugherty edited their review of gene: KMT2B: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KIF5A Louise Daugherty edited their review of gene: KIF5A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 KIF1C Louise Daugherty edited their review of gene: KIF1C: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KIF1A Louise Daugherty edited their review of gene: KIF1A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KIDINS220 Louise Daugherty edited their review of gene: KIDINS220: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KIAA1161 Louise Daugherty edited their review of gene: KIAA1161: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 KDM5C Louise Daugherty edited their review of gene: KDM5C: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KCNQ3 Louise Daugherty edited their review of gene: KCNQ3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KCNQ2 Louise Daugherty edited their review of gene: KCNQ2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KCNJ10 Louise Daugherty edited their review of gene: KCNJ10: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 KCNA1 Louise Daugherty edited their review of gene: KCNA1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ITPR1 Louise Daugherty edited their review of gene: ITPR1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ITM2B Louise Daugherty edited their review of gene: ITM2B: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 IBA57 Louise Daugherty edited their review of gene: IBA57: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 HTRA2 Louise Daugherty edited their review of gene: HTRA2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 HSPD1 Louise Daugherty edited their review of gene: HSPD1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 HPCA Louise Daugherty edited their review of gene: HPCA: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 HNRNPA2B1 Louise Daugherty commented on gene: HNRNPA2B1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 HACE1 Louise Daugherty edited their review of gene: HACE1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GRM1 Louise Daugherty edited their review of gene: GRM1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GRID2 Louise Daugherty edited their review of gene: GRID2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GPAA1 Louise Daugherty edited their review of gene: GPAA1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GOSR2 Louise Daugherty edited their review of gene: GOSR2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GNAO1 Louise Daugherty edited their review of gene: GNAO1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GNAL Louise Daugherty edited their review of gene: GNAL: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GLRB Louise Daugherty edited their review of gene: GLRB: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GLRA1 Louise Daugherty edited their review of gene: GLRA1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GJC2 Louise Daugherty edited their review of gene: GJC2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 GIGYF2 Louise Daugherty commented on gene: GIGYF2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 GCH1 Louise Daugherty edited their review of gene: GCH1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 GCDH Louise Daugherty commented on gene: GCDH: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 GBA2 Louise Daugherty edited their review of gene: GBA2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 FXN Louise Daugherty edited their review of gene: FXN: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 FOLR1 Louise Daugherty edited their review of gene: FOLR1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 FMR1 Louise Daugherty edited their review of gene: FMR1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 FLVCR1 Louise Daugherty edited their review of gene: FLVCR1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 FGF14 Louise Daugherty edited their review of gene: FGF14: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 FARS2 Louise Daugherty edited their review of gene: FARS2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 FA2H Louise Daugherty edited their review of gene: FA2H: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 EXOSC3 Louise Daugherty edited their review of gene: EXOSC3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 EWSR1 Louise Daugherty commented on gene: EWSR1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ERLIN2 Louise Daugherty edited their review of gene: ERLIN2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ERLIN1 Louise Daugherty edited their review of gene: ERLIN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ERBB4 Louise Daugherty commented on gene: ERBB4: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 EIF4G1 Louise Daugherty commented on gene: EIF4G1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 EIF2B5 Louise Daugherty edited their review of gene: EIF2B5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 DNAJC19 Louise Daugherty edited their review of gene: DNAJC19: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DNAJC13 Louise Daugherty commented on gene: DNAJC13: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 DMXL2 Louise Daugherty edited their review of gene: DMXL2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DLAT Louise Daugherty edited their review of gene: DLAT: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DDHD2 Louise Daugherty edited their review of gene: DDHD2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DDHD1 Louise Daugherty edited their review of gene: DDHD1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DDC Louise Daugherty edited their review of gene: DDC: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DCAF17 Louise Daugherty edited their review of gene: DCAF17: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DARS Louise Daugherty edited their review of gene: DARS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 DAO Louise Daugherty commented on gene: DAO: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 DAB1 Louise Daugherty commented on gene: DAB1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 CYP2U1 Louise Daugherty edited their review of gene: CYP2U1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CWF19L1 Louise Daugherty edited their review of gene: CWF19L1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CTSF Louise Daugherty edited their review of gene: CTSF: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CSTB Louise Daugherty edited their review of gene: CSTB: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COX20 Louise Daugherty edited their review of gene: COX20: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COQ8A Louise Daugherty edited their review of gene: COQ8A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COQ2 Louise Daugherty commented on gene: COQ2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 COG5 Louise Daugherty edited their review of gene: COG5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COASY Louise Daugherty edited their review of gene: COASY: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CLP1 Louise Daugherty commented on gene: CLP1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 CIZ1 Louise Daugherty commented on gene: CIZ1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 CHMP1A Louise Daugherty edited their review of gene: CHMP1A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CHCHD2 Louise Daugherty edited their review of gene: CHCHD2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CHCHD10 Louise Daugherty edited their review of gene: CHCHD10: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CCDC88C Louise Daugherty commented on gene: CCDC88C: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 CASK Louise Daugherty edited their review of gene: CASK: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CAPN1 Louise Daugherty edited their review of gene: CAPN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CAMTA1 Louise Daugherty edited their review of gene: CAMTA1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CACNB4 Louise Daugherty edited their review of gene: CACNB4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CACNA1A Louise Daugherty edited their review of gene: CACNA1A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CA8 Louise Daugherty edited their review of gene: CA8: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 C9orf72 Louise Daugherty edited their review of gene: C9orf72: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 C19orf12 Louise Daugherty edited their review of gene: C19orf12: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 C12orf65 Louise Daugherty edited their review of gene: C12orf65: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 BSCL2 Louise Daugherty edited their review of gene: BSCL2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 BCAP31 Louise Daugherty edited their review of gene: BCAP31: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 B4GALNT1 Louise Daugherty edited their review of gene: B4GALNT1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN7 Louise Daugherty edited their review of gene: ATXN7: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN3 Louise Daugherty edited their review of gene: ATXN3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN2 Louise Daugherty edited their review of gene: ATXN2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN10 Louise Daugherty edited their review of gene: ATXN10: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN1 Louise Daugherty edited their review of gene: ATXN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATP8A2 Louise Daugherty commented on gene: ATP8A2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ATP7B Louise Daugherty edited their review of gene: ATP7B: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 ATP6AP2 Louise Daugherty commented on gene: ATP6AP2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ATP2B3 Louise Daugherty commented on gene: ATP2B3: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ATP1A2 Louise Daugherty edited their review of gene: ATP1A2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATN1 Louise Daugherty edited their review of gene: ATN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATM Louise Daugherty edited their review of gene: ATM: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATL1 Louise Daugherty edited their review of gene: ATL1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATCAY Louise Daugherty edited their review of gene: ATCAY: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ARX Louise Daugherty commented on gene: ARX: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ARHGEF28 Louise Daugherty commented on gene: ARHGEF28: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ARG1 Louise Daugherty edited their review of gene: ARG1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AR Louise Daugherty edited their review of gene: AR: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 APTX Louise Daugherty edited their review of gene: APTX: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP5Z1 Louise Daugherty commented on gene: AP5Z1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 AP4S1 Louise Daugherty edited their review of gene: AP4S1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP4M1 Louise Daugherty edited their review of gene: AP4M1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP4E1 Louise Daugherty edited their review of gene: AP4E1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP4B1 Louise Daugherty edited their review of gene: AP4B1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP1S2 Louise Daugherty edited their review of gene: AP1S2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ANXA11 Louise Daugherty edited their review of gene: ANXA11: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 ANO3 Louise Daugherty edited their review of gene: ANO3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ANO10 Louise Daugherty edited their review of gene: ANO10: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ALDH18A1 Louise Daugherty edited their review of gene: ALDH18A1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AIMP1 Louise Daugherty edited their review of gene: AIMP1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ADCY5 Louise Daugherty edited their review of gene: ADCY5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ADAR Louise Daugherty edited their review of gene: ADAR: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ABCB7 Louise Daugherty edited their review of gene: ABCB7: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AAAS Louise Daugherty edited their review of gene: AAAS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.105 THAP1 Louise Daugherty Source Expert Review Red was added to THAP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TH Louise Daugherty Source Expert Review Red was added to TH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.103 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.102 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
Adult onset neurodegenerative disorder v1.101 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TAF1 Louise Daugherty commented on gene: TAF1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NEFH Louise Daugherty commented on gene: NEFH: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MVK Louise Daugherty commented on gene: MVK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MAG Louise Daugherty commented on gene: MAG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GNAL Louise Daugherty commented on gene: GNAL: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DMXL2 Louise Daugherty commented on gene: DMXL2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DARS Louise Daugherty commented on gene: DARS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COG5 Louise Daugherty commented on gene: COG5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HACE1 Louise Daugherty commented on gene: HACE1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 YY1 Louise Daugherty commented on gene: YY1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WWOX Louise Daugherty commented on gene: WWOX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WFS1 Louise Daugherty commented on gene: WFS1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR81 Louise Daugherty commented on gene: WDR81: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR73 Louise Daugherty commented on gene: WDR73: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR45 Louise Daugherty commented on gene: WDR45: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WASHC5 Louise Daugherty commented on gene: WASHC5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VRK1 Louise Daugherty commented on gene: VRK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VPS35 Louise Daugherty commented on gene: VPS35: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VPS13D Louise Daugherty commented on gene: VPS13D: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VPS13A Louise Daugherty commented on gene: VPS13A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VLDLR Louise Daugherty commented on gene: VLDLR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VCP Louise Daugherty commented on gene: VCP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VAPB Louise Daugherty commented on gene: VAPB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VAC14 Louise Daugherty commented on gene: VAC14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 UBQLN2 Louise Daugherty commented on gene: UBQLN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TYROBP Louise Daugherty commented on gene: TYROBP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TWNK Louise Daugherty commented on gene: TWNK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TUBB4A Louise Daugherty commented on gene: TUBB4A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TTPA Louise Daugherty commented on gene: TTPA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TTC19 Louise Daugherty commented on gene: TTC19: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TTBK2 Louise Daugherty commented on gene: TTBK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TSEN54 Louise Daugherty commented on gene: TSEN54: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TSEN2 Louise Daugherty commented on gene: TSEN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TPP1 Louise Daugherty commented on gene: TPP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TOR1A Louise Daugherty commented on gene: TOR1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TMEM240 Louise Daugherty commented on gene: TMEM240: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 THAP1 Louise Daugherty commented on gene: THAP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TH Louise Daugherty commented on gene: TH: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TGM6 Louise Daugherty commented on gene: TGM6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TBK1 Louise Daugherty commented on gene: TBK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TARDBP Louise Daugherty commented on gene: TARDBP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SYNJ1 Louise Daugherty commented on gene: SYNJ1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SYNE1 Louise Daugherty commented on gene: SYNE1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 STUB1 Louise Daugherty commented on gene: STUB1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SRD5A3 Louise Daugherty commented on gene: SRD5A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPTBN2 Louise Daugherty commented on gene: SPTBN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPR Louise Daugherty commented on gene: SPR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPG21 Louise Daugherty commented on gene: SPG21: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPG11 Louise Daugherty commented on gene: SPG11: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPAST Louise Daugherty commented on gene: SPAST: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPART Louise Daugherty commented on gene: SPART: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SOD1 Louise Daugherty commented on gene: SOD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SNX14 Louise Daugherty commented on gene: SNX14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SNCA Louise Daugherty commented on gene: SNCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC9A6 Louise Daugherty commented on gene: SLC9A6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC6A5 Louise Daugherty commented on gene: SLC6A5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC6A3 Louise Daugherty commented on gene: SLC6A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC52A3 Louise Daugherty commented on gene: SLC52A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC52A2 Louise Daugherty commented on gene: SLC52A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC39A14 Louise Daugherty commented on gene: SLC39A14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC30A10 Louise Daugherty commented on gene: SLC30A10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC1A3 Louise Daugherty commented on gene: SLC1A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SIL1 Louise Daugherty commented on gene: SIL1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SGCE Louise Daugherty commented on gene: SGCE: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SETX Louise Daugherty commented on gene: SETX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SEPSECS Louise Daugherty commented on gene: SEPSECS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SCN8A Louise Daugherty commented on gene: SCN8A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SCN1A Louise Daugherty commented on gene: SCN1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SAR1B Louise Daugherty commented on gene: SAR1B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SACS Louise Daugherty commented on gene: SACS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RTN2 Louise Daugherty commented on gene: RTN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RNF216 Louise Daugherty commented on gene: RNF216: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RNF170 Louise Daugherty commented on gene: RNF170: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RARS2 Louise Daugherty commented on gene: RARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RAB39B Louise Daugherty commented on gene: RAB39B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PSEN2 Louise Daugherty commented on gene: PSEN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRRT2 Louise Daugherty commented on gene: PRRT2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRNP Louise Daugherty commented on gene: PRNP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRKRA Louise Daugherty commented on gene: PRKRA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRKN Louise Daugherty commented on gene: PRKN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRKCG Louise Daugherty commented on gene: PRKCG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 POLR3A Louise Daugherty commented on gene: POLR3A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 POLG Louise Daugherty commented on gene: POLG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PNKP Louise Daugherty commented on gene: PNKP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PNKD Louise Daugherty commented on gene: PNKD: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PMPCA Louise Daugherty commented on gene: PMPCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PLP1 Louise Daugherty commented on gene: PLP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PLA2G6 Louise Daugherty commented on gene: PLA2G6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PINK1 Louise Daugherty commented on gene: PINK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PFN1 Louise Daugherty commented on gene: PFN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PEX16 Louise Daugherty commented on gene: PEX16: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PDYN Louise Daugherty commented on gene: PDYN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PAX6 Louise Daugherty commented on gene: PAX6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PARK7 Louise Daugherty commented on gene: PARK7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PANK2 Louise Daugherty commented on gene: PANK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 OPTN Louise Daugherty commented on gene: OPTN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 OPHN1 Louise Daugherty commented on gene: OPHN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 OPA3 Louise Daugherty commented on gene: OPA3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NPC2 Louise Daugherty commented on gene: NPC2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NPC1 Louise Daugherty commented on gene: NPC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NOTCH3 Louise Daugherty commented on gene: NOTCH3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NIPA1 Louise Daugherty commented on gene: NIPA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NHLRC1 Louise Daugherty commented on gene: NHLRC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MTTP Louise Daugherty commented on gene: MTTP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MRE11 Louise Daugherty commented on gene: MRE11: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MMACHC Louise Daugherty commented on gene: MMACHC: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MECR Louise Daugherty commented on gene: MECR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MAPT Louise Daugherty commented on gene: MAPT: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 LYST Louise Daugherty commented on gene: LYST: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 LRRK2 Louise Daugherty commented on gene: LRRK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 L1CAM Louise Daugherty commented on gene: L1CAM: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KMT2B Louise Daugherty commented on gene: KMT2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIF5A Louise Daugherty commented on gene: KIF5A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIF1A Louise Daugherty commented on gene: KIF1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNQ3 Louise Daugherty commented on gene: KCNQ3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNQ2 Louise Daugherty commented on gene: KCNQ2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNJ10 Louise Daugherty commented on gene: KCNJ10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCND3 Louise Daugherty commented on gene: KCND3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNC3 Louise Daugherty commented on gene: KCNC3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNA1 Louise Daugherty commented on gene: KCNA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ITPR1 Louise Daugherty commented on gene: ITPR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ITM2B Louise Daugherty commented on gene: ITM2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HTRA2 Louise Daugherty commented on gene: HTRA2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HPCA Louise Daugherty commented on gene: HPCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HNRNPA1 Louise Daugherty commented on gene: HNRNPA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HEXB Louise Daugherty commented on gene: HEXB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HEXA Louise Daugherty commented on gene: HEXA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GRN Louise Daugherty commented on gene: GRN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GRM1 Louise Daugherty commented on gene: GRM1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GRID2 Louise Daugherty commented on gene: GRID2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GPAA1 Louise Daugherty commented on gene: GPAA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GOSR2 Louise Daugherty commented on gene: GOSR2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GNAO1 Louise Daugherty commented on gene: GNAO1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GLRB Louise Daugherty commented on gene: GLRB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GLRA1 Louise Daugherty commented on gene: GLRA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GFAP Louise Daugherty commented on gene: GFAP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GBA2 Louise Daugherty commented on gene: GBA2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GBA Louise Daugherty commented on gene: GBA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FXN Louise Daugherty commented on gene: FXN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FUS Louise Daugherty commented on gene: FUS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FTL Louise Daugherty commented on gene: FTL: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FOLR1 Louise Daugherty commented on gene: FOLR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FMR1 Louise Daugherty commented on gene: FMR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FLVCR1 Louise Daugherty commented on gene: FLVCR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FIG4 Louise Daugherty commented on gene: FIG4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FGF14 Louise Daugherty commented on gene: FGF14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FBXO7 Louise Daugherty commented on gene: FBXO7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FA2H Louise Daugherty commented on gene: FA2H: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EXOSC3 Louise Daugherty commented on gene: EXOSC3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EPM2A Louise Daugherty commented on gene: EPM2A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ELOVL4 Louise Daugherty commented on gene: ELOVL4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B5 Louise Daugherty commented on gene: EIF2B5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B4 Louise Daugherty commented on gene: EIF2B4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B3 Louise Daugherty commented on gene: EIF2B3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B2 Louise Daugherty commented on gene: EIF2B2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B1 Louise Daugherty commented on gene: EIF2B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNMT1 Louise Daugherty commented on gene: DNMT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNAJC6 Louise Daugherty commented on gene: DNAJC6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNAJC5 Louise Daugherty commented on gene: DNAJC5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNAJC19 Louise Daugherty commented on gene: DNAJC19: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DCTN1 Louise Daugherty commented on gene: DCTN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DCAF17 Louise Daugherty commented on gene: DCAF17: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DARS2 Louise Daugherty commented on gene: DARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CWF19L1 Louise Daugherty commented on gene: CWF19L1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CSTB Louise Daugherty commented on gene: CSTB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CSF1R Louise Daugherty commented on gene: CSF1R: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CP Louise Daugherty commented on gene: CP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COX20 Louise Daugherty commented on gene: COX20: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COQ8A Louise Daugherty commented on gene: COQ8A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COASY Louise Daugherty commented on gene: COASY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CLN6 Louise Daugherty commented on gene: CLN6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CLCN2 Louise Daugherty commented on gene: CLCN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CHMP2B Louise Daugherty commented on gene: CHMP2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CHMP1A Louise Daugherty commented on gene: CHMP1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CASK Louise Daugherty commented on gene: CASK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CAMTA1 Louise Daugherty commented on gene: CAMTA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CACNB4 Louise Daugherty commented on gene: CACNB4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CACNA1G Louise Daugherty commented on gene: CACNA1G: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CACNA1A Louise Daugherty commented on gene: CACNA1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CA8 Louise Daugherty commented on gene: CA8: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP7B Louise Daugherty commented on gene: ATP7B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP1A3 Louise Daugherty commented on gene: ATP1A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATM Louise Daugherty commented on gene: ATM: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATCAY Louise Daugherty commented on gene: ATCAY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ARSA Louise Daugherty commented on gene: ARSA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AR Louise Daugherty commented on gene: AR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 APTX Louise Daugherty commented on gene: APTX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 APP Louise Daugherty commented on gene: APP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP1S2 Louise Daugherty commented on gene: AP1S2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ANO3 Louise Daugherty commented on gene: ANO3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ANO10 Louise Daugherty commented on gene: ANO10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ANG Louise Daugherty commented on gene: ANG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ADCY5 Louise Daugherty commented on gene: ADCY5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ADAR Louise Daugherty commented on gene: ADAR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ABHD12 Louise Daugherty commented on gene: ABHD12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ABCB7 Louise Daugherty commented on gene: ABCB7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AAAS Louise Daugherty commented on gene: AAAS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 THAP1 Louise Daugherty Source Wessex and West Midlands GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.100 TH Louise Daugherty Source Wessex and West Midlands GLH was added to TH.
Adult onset neurodegenerative disorder v1.99 VAMP1 Tracy Lester reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TAF1 Tracy Lester reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation), Dystonia-Parkinsonism, X-linked, 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 REEP2 Tracy Lester reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NEFH Tracy Lester reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 MVK Tracy Lester reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MAG Tracy Lester reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KDM5C Tracy Lester reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.99 IBA57 Tracy Lester reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GNAL Tracy Lester reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GCH1 Tracy Lester reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DMXL2 Tracy Lester reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, ORPHA90636, OMIM:612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 DARS Tracy Lester reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COG5 Tracy Lester reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CIZ1 Tracy Lester reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22447717; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.99 CHCHD2 Tracy Lester reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 CDK16 Tracy Lester reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 HACE1 Tracy Lester reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ERLIN1 Tracy Lester reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ARG1 Tracy Lester reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ABCD1 Tracy Lester reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 ZFYVE26 Tracy Lester reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 YY1 Tracy Lester reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 WWOX Tracy Lester reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WFS1 Tracy Lester reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR81 Tracy Lester reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR73 Tracy Lester reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR45B Tracy Lester reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR45 Tracy Lester reviewed gene: WDR45: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 WASHC5 Tracy Lester reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VRK1 Tracy Lester reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 1A (#607596); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VPS35 Tracy Lester reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VPS13D Tracy Lester reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VPS13A Tracy Lester reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VLDLR Tracy Lester reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VCP Tracy Lester reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VAPB Tracy Lester reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VAC14 Tracy Lester reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 UBQLN2 Tracy Lester reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 TYROBP Tracy Lester reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TWNK Tracy Lester reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar Ataxia, Recessive, Ataxia Neuropathy Spectrum Disorders, Dominant, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286, Perrault syndrome 5, 616138, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TUBB4A Tracy Lester reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 6 612438, ?Dystonia 4, torsion, autosomal dominant, 128101, hypomyelinating leukodystrophy 6, Implicated autosomal dominant variants in two families with ataxia, Dystonia, Torsion dystonia 4 (128101) - some individuals with ataxia, ataxia, hereditary whispering dysphonia, Complex parkinsonism, hypomyelinating leukodystrophy 6 (612438) - ataxia reported., Dystonia 4, torsion, autosomal dominant 128101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TTPA Tracy Lester reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TTC19 Tracy Lester reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TTBK2 Tracy Lester reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TSEN54 Tracy Lester reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TSEN2 Tracy Lester reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TPP1 Tracy Lester reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TOR1A Tracy Lester reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TMEM240 Tracy Lester reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 THAP1 Tracy Lester reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Dystonia 6, torsion, 602629, DYT6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TH Tracy Lester reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Segawa syndrome, DOPA-responsive dystonia, infantile parkinsonism, Segawa syndrome, recessive, 605407, paediatric form of dopa responsive dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TGM6 Tracy Lester reviewed gene: TGM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35, 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TBK1 Tracy Lester reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FTLD, ALS, fronto-temporal dementia, Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TARDBP Tracy Lester reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal Dementia, Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SYNJ1 Tracy Lester reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 20, early-onset, 615530, Early Onset Complex Disease, juvenile Parkinsonism, Parkinson disease 20, early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SYNE1 Tracy Lester reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 STUB1 Tracy Lester reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SRD5A3 Tracy Lester reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPTBN2 Tracy Lester reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), Spinocerebellar ataxia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SPR Tracy Lester reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG7 Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG21 Tracy Lester reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG11 Tracy Lester reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPAST Tracy Lester reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SPART Tracy Lester reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SOD1 Tracy Lester reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 1, 105400, amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SNX14 Tracy Lester reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia (#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SNCA Tracy Lester reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4), Parkinson disease 4, 605543, Parkinson disease 1, 168601, Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SLC9A6 Tracy Lester reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC6A3 Tracy Lester reviewed gene: SLC6A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinsonism-dystonia, infantile, 613135, {Nicotine dependence, protection against}, 188890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC52A3 Tracy Lester reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SLC52A2 Tracy Lester reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC39A14 Tracy Lester reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypermanganesemia with dystonia 2 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC30A10 Tracy Lester reviewed gene: SLC30A10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease, Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 DEFICIENCY SYNDROME 1, dystonia 9, GLUT1 deficiency syndrome 1, infantile onset, severe, EPILEPSY, IDIOPATHIC GENERALIZED, Dystonia, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome 1, 606777, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC25A46 Tracy Lester reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC1A4 Tracy Lester reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPISODIC ATAXIA, TYPE 6, Episodic ataxia, type 6,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SLC16A2 Tracy Lester reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 SIL1 Tracy Lester reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SIGMAR1 Tracy Lester reviewed gene: SIGMAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 16, juvenile, 614373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SGCE Tracy Lester reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myoclonus dystonia syndrome, Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Adult onset neurodegenerative disorder v1.99 SETX Tracy Lester reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Ataxia-ocular apraxia-2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SERAC1 Tracy Lester reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDEL syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SEPSECS Tracy Lester reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D (613811); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Cognitive impairment with or without cerebellar ataxia, 614306, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: several epilepsy, convulsion and migraine disorders., familial hemiplegic migraine 3, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 SAR1B Tracy Lester reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SACS Tracy Lester reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 RTN2 Tracy Lester reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 RNF216 Tracy Lester reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 RNF170 Tracy Lester reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, sensory, 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 REEP1 Tracy Lester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 RARS2 Tracy Lester reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 RAB39B Tracy Lester reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset parkinsonism and intellectual disability, ?Waisman syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 PSEN2 Tracy Lester reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 PSEN1 Tracy Lester reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acne inversa, familial, 3, 613737, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822, Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Dystonia, Dementia, frontotemporal, 600274, Pick disease, 172700, Clinical syndrome Alzheimer disease, Alzheimer disease, type 3, 607822, Cardiomyopathy, dilated, 1U, 613694, Alzheimer disease, type 3, with spastic paraparesis and apraxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia and occasionally hemiplegic migraine and epilepsy, episodic kinesigenic dyskinesia, EPISODIC KINESIGENIC DYSKINESIA 1, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, Episodic kinesigenic dyskinesia 1, 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PRNP Tracy Lester reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PRKRA Tracy Lester reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early-Onset Generalized Dystonia-Parkinsonism, Dystonia 16, Dystonia, Dystonia 16, 612067, early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PRKN Tracy Lester reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, Dystonia, Parkinson Disease 2, Autosomal Recessive Juvenile, juvenile parkinsonism/dystonia, Parkinson Disease, Juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PRKCG Tracy Lester reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 POLR3A Tracy Lester reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal Recessive Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PNPLA6 Tracy Lester reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470), Spastic paraplegia 39, autosomal recessive, Oliver-McFarlane syndrome (#603197), Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PNKP Tracy Lester reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with oculomotor apraxia 4 (#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PNKD Tracy Lester reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paroxysmal Nonkinesigenic Dyskinesia, PAROXYSMAL NONKINESIGENIC DYSKINESIA 1, Paroxysmal nonkinesigenic dyskinesia, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 PMPCA Tracy Lester reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PLP1 Tracy Lester reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 PLA2G6 Tracy Lester reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1, 256600, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation 2B, 610217, Infantile neuroaxonal dystrophy 1 (#256600), Neurodegeneration with brain iron accumulation 2B (#610217), Parkinson disease 14 (#612953), Parkinson disease 14, 612953, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PINK1 Tracy Lester reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 6, early onset, 605909, Dystonia, Parkinson Disease 6, Autosomal Recessive Early-Onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PFN1 Tracy Lester reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 18, 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PEX16 Tracy Lester reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PDYN Tracy Lester reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 23; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PAX6 Tracy Lester reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, Cerebellar Ataxia, And Mental Retardation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PARK7 Tracy Lester reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PANK2 Tracy Lester reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 OPTN Tracy Lester reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glaucoma 1, open angle, E, 137760, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 OPHN1 Tracy Lester reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 OPA3 Tracy Lester reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NPC2 Tracy Lester reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Niemann-Pick disease type C2 (#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NPC1 Tracy Lester reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease types C1 and D (#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NOTCH3 Tracy Lester reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 NKX6-2 Tracy Lester reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NIPA1 Tracy Lester reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 NHLRC1 Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MTTP Tracy Lester reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Ataxia, and Retinitis Pigmentosa; Mode of inheritance: MITOCHONDRIAL
Adult onset neurodegenerative disorder v1.99 MRE11 Tracy Lester reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder, Ataxia-Telangiectasia-Like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MECR Tracy Lester reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MARS2 Tracy Lester reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MAPT Tracy Lester reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, frontotemporal, with or without parkinsonism, 600274, Tauopathy and r, Supranuclear palsy, progressive, 601104, clinical presentation suggestive of cortico-basal/PSP syndrome, PARKINSON-DEMENTIA SYNDROME, {Parkinson disease, susceptibility to}, 168600, Pick disease, 172700, Clinical syndrome FTLD (Frontotemporal lobar degeneration), Supranuclear palsy, progressive atypical, 260540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 LYST Tracy Lester reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 LRRK2 Tracy Lester reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease 8, Autosomal Dominant, Autosomal dominant Parkinson's disease, Parkinson Disease, Dominant, PARKINSON DISEASE 8, AUTOSOMAL DOMINANT, LRRK2 G2019S mutation, Parkinson disease 8, 607060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 L1CAM Tracy Lester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 KMT2B Tracy Lester reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KIF5A Tracy Lester reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KIF1C Tracy Lester reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26410750; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KIDINS220 Tracy Lester reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 KCNJ10 Tracy Lester reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KCND3 Tracy Lester reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia19,607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 KCNC3 Tracy Lester reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome,, EPISODIC ATAXIA, TYPE 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ITPR1 Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 29, Spinocerebellar ataxia 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ITM2B Tracy Lester reviewed gene: ITM2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 210391242, 10781099; Phenotypes: Dementia, familial British, 176500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 HTRA2 Tracy Lester reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 18364387, 15961413; Phenotypes: Parkinson Disease, Dominant, Parkinson disease 13, 610297, 3-methylglutaconic aciduria, type VIII 617248; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 HSPD1 Tracy Lester reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30564185, 25326637, 17420924, 18378094 ; Phenotypes: Spastic paraplegia 13, autosomal dominant 605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 HPCA Tracy Lester reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: 30145809, 25799108; Phenotypes: Dystonia 2, torsion, autosomal recessive, 224500, generalized dystonia with additional neurological features, adolescence-onset segmental dystonia, childhood-onset generalized dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 HNRNPA1 Tracy Lester reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23455423, 29033165, 27694260 ; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3 615424, ALS type 20 615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 HEXB Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 20798201; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 HEXA Tracy Lester reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GRN Tracy Lester reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: clinical presentation suggestive of cortico-basal/PSP syndrome, Complex parkinsonism, Frontotemporal Dementia, frontotemporal lobar degeneration with TDP43 inclusions, Clinical syndrome FTLD (Frontotemporal lobar degeneration); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GRM1 Tracy Lester reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GRID2 Tracy Lester reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GPAA1 Tracy Lester reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GOSR2 Tracy Lester reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GNAO1 Tracy Lester reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with involuntary movements, 617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GLRB Tracy Lester reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia, hereditary 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GJC2 Tracy Lester reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25059390; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GFAP Tracy Lester reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Dominant Ataxia, Alexander disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GBA2 Tracy Lester reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GBA Tracy Lester reviewed gene: GBA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Parkinson disease, late-onset, susceptibility to}, 168600, Gaucher disease, type I, 230800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FXN Tracy Lester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FUS Tracy Lester reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FTL Tracy Lester reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FOLR1 Tracy Lester reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FMR1 Tracy Lester reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI), males with a tremor phenotype, FragileXtremor/ataxiasyndrome,300623; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 FLVCR1 Tracy Lester reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FIG4 Tracy Lester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FGF14 Tracy Lester reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 27; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FBXO7 Tracy Lester reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease, Recessive, Dystonia, juvenile parkinsonism, parkinsonian-pyramidal syndrome, Parkinson disease 15, autosomal recessive, 260300, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FARS2 Tracy Lester reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FA2H Tracy Lester reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EXOSC3 Tracy Lester reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ERLIN2 Tracy Lester reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23085305, 27824013; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EPM2A Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ELOVL4 Tracy Lester reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 34 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 EIF2B5 Tracy Lester reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B4 Tracy Lester reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B3 Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B2 Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B1 Tracy Lester reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Deafness, and Sensory Neuropathy, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 DNAJC6 Tracy Lester reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, Parkinson disease 19, juvenile-onset, 615528, Parkinson disease 19a, juvenile-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DNAJC5 Tracy Lester reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 DNAJC19 Tracy Lester reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DDHD2 Tracy Lester reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132., Spastic paraplegia 54, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DDHD1 Tracy Lester reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DCTN1 Tracy Lester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625595, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 DCAF17 Tracy Lester reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Woodhouse-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DARS2 Tracy Lester reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP7B1 Tracy Lester reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP2U1 Tracy Lester reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP27A1 Tracy Lester reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CWF19L1 Tracy Lester reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CSTB Tracy Lester reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800, microcephaly and severe dyskinesia (26843564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CSF1R Tracy Lester reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CP Tracy Lester reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COX20 Tracy Lester reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30656193; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COQ8A Tracy Lester reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COASY Tracy Lester reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CLN6 Tracy Lester reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CLCN2 Tracy Lester reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 2}, 607628, {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CHMP2B Tracy Lester reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: familial frontotemporal lobar degeneration (ALS17), Dystonia, Frontotemporal Dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Dementia, familial, nonspecific, 600795, Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696, Amyotrophic lateral sclerosis 17, 614696; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CHMP1A Tracy Lester reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CASK Tracy Lester reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 CAPN1 Tracy Lester reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CAMTA1 Tracy Lester reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellarataxia, nonprogressive, with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CACNA1G Tracy Lester reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28726809; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: episodic ataxia type 2 (EA2),108500, familial hemiplegic migraine type 1, 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Dystonia, Spinocerebellar ataxia 6, Episodic ataxia, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 CA8 Tracy Lester reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 C19orf12 Tracy Lester reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 C12orf65 Tracy Lester reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 BSCL2 Tracy Lester reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 B4GALNT1 Tracy Lester reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease 277900, Dystonia, Wilson Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820, CAPOS syndrome, DYSTONIA 12, 128235, Dystonia-12, alternating hemiplegia of childhood, Dystonia-12, 128235, Rapid-Onset Dystonia-Parkinsonism, rapid-onset dystonia-parkinsonism, Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338), Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: 30690204; Phenotypes: Dystonia, alternating hemiplegia of childhood 104290, familial basilar migraine 602481, migraine, familial hemiplegic migraine type 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 ATP13A2 Tracy Lester reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 9, 606693, Dystonia, Kufor-Rakeb syndrome, Kufor-Rakeb Syndrome, Parkinson disease, Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATM Tracy Lester reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Ataxia-Telangiectasia, Ataxia telangiectasia, Ataxia-telangiectasia,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATL1 Tracy Lester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ATCAY Tracy Lester reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, cerebellar, Cayman type, Cerebellar Ataxia, Cayman type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ARSA Tracy Lester reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy (#250100), Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AR Tracy Lester reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 APTX Tracy Lester reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 APP Tracy Lester reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Clinical syndrome Alzheimer disease, Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 AP4S1 Tracy Lester reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4M1 Tracy Lester reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4E1 Tracy Lester reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4B1 Tracy Lester reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP1S2 Tracy Lester reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 ANO3 Tracy Lester reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: 30502610, 28283962; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ANO10 Tracy Lester reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ANG Tracy Lester reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 9, 611895, Amyotrophic Lateral Sclerosis, Dominant, familial amyotrophic lateral sclerosis (ALS9); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014)., Hereditary Spastic Paraplegia?, Pontocerebellar hypoplasia 9 (#615809), Pontocerebellar hypolplasia (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ALS2 Tracy Lester reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ALDH18A1 Tracy Lester reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AIMP1 Tracy Lester reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AFG3L2 Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia, Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 ADAR Tracy Lester reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010, dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ABHD12 Tracy Lester reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ABCB7 Tracy Lester reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia,, Sideroblastic Anemia and Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 AAAS Tracy Lester reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.98 GBA Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call Friday 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber.; to: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call Friday 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber. Rating changed from Green to Amber
Adult onset neurodegenerative disorder v1.98 GBA Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call Friday 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber.
Adult onset neurodegenerative disorder v1.97 GBA Arianna Tucci reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.93 HTRA1 Louise Daugherty Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.92 HTRA1 Louise Daugherty Phenotypes for gene: HTRA1 were changed from Dementia to Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Adult onset neurodegenerative disorder v1.91 BCAP31 Louise Daugherty Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.89 SLC20A2 Louise Daugherty Phenotypes for gene: SLC20A2 were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 1, 158378
Adult onset neurodegenerative disorder v1.87 PDGFRB Louise Daugherty Phenotypes for gene: PDGFRB were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 4, 615007
Adult onset neurodegenerative disorder v1.81 SIGMAR1 Louise Daugherty Publications for gene SIGMAR1 were changed from PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls to 26088964; 26078401; 21031579; 26088963; 21842496; 27821430
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 CHCHD2 Louise Daugherty Publications for gene CHCHD2 were changed from 26067110; Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114 to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114; 26705026; 26067110
Adult onset neurodegenerative disorder v1.81 ANG Louise Daugherty Publications for gene ANG were changed from PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25372031 functional investigation of ANG variants.; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population; PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS to 16501576; 26753798; 17886298; 26255299
Adult onset neurodegenerative disorder v1.80 SIGMAR1 Louise Daugherty Deleted their comment
Adult onset neurodegenerative disorder v1.80 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.;PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile;PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions;PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion;PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty changed review comment from: 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.; 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

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.
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty edited their review of gene: PRKRA: Changed rating: AMBER
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.
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty Deleted their review
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 v1.79 OPTN Louise Daugherty commented on gene: OPTN: PMID: 25943890;(iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient;(ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS;PMID: 26203661;PMID: 25859013 - functional evidence;PMID: 25681989;PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS;PMID: 26503823;PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.;and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Adult onset neurodegenerative disorder v1.79 OPTN Louise Daugherty Publications for gene: OPTN were set to PMID: 25943890; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; PMID: 26203661; PMID: 25859013 - functional evidence; PMID: 25681989; PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS; PMID: 26503823; PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty commented on gene: CHMP2B: Comment: - PMID: 20352044 conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty changed review comment from: 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. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.; to: 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.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty changed review comment from: 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.; to: 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. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Adult onset neurodegenerative disorder v1.77 ATXN10_CAG Louise Daugherty Str: atxn10_cag has been removed from the panel.
Adult onset neurodegenerative disorder v1.76 ATXN1_ATTCT Louise Daugherty Str: atxn1_attct has been removed from the panel.
Adult onset neurodegenerative disorder v1.75 TBP_CAG Louise Daugherty edited their review of STR: TBP_CAG: Added comment: 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. Comment : Median age at onset 23 years, progressive; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_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. Comment: Age at onset 8 to 55 years (mean 40 years)
Adult onset neurodegenerative disorder v1.75 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: 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 NOT reported as part of the current diagnostic practice. Comment: Patients with longer disease duration show motor neuron involvement.
Adult onset neurodegenerative disorder v1.75 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: 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 NOT reported as part of the current diagnostic practice. Comment: Mean age of onset 35-40 years.
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 FXN_GAA Louise Daugherty edited their review of STR: FXN_GAA: Added comment: Red 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 NOT reported as part of the current diagnostic practice. Comment: Neurodegeneration not feature of disease.; Changed rating: RED
Adult onset neurodegenerative disorder v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Changed rating: RED
Adult onset neurodegenerative disorder v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Added comment: Red 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 NOT reported as part of the current diagnostic practice.; Changed rating: AMBER
Adult onset neurodegenerative disorder v1.75 CACNA1A_CAG Louise Daugherty edited their review of STR: CACNA1A_CAG: Added comment: 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. Comment: Age of onset 20-65 years; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: 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. Comment: Onset in adulthood, rapidly progressive
Adult onset neurodegenerative disorder v1.75 ATXN7_CAG Louise Daugherty edited their review of STR: ATXN7_CAG: Added comment: 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.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_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 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_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 ATXN1_CAG Louise Daugherty edited their review of STR: ATXN1_CAG: Added comment: 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.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 ATXN10_ATTCT Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: 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.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 ATN1_CAG Louise Daugherty commented on STR: ATN1_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 AR_CAG Louise Daugherty commented on STR: AR_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 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region 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 in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region 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 in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37404-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region 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 in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region 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 in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Gain Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region 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 in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region 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 in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37404-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Gain Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 TBP_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: TBP_CAG.
Adult onset neurodegenerative disorder v1.75 PPP2R2B_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: PPP2R2B_CAG.
Adult onset neurodegenerative disorder v1.75 NOP56_GGCCTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.75 JPH3_CTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: JPH3_CTG.
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 v1.75 FXN_GAA Louise Daugherty Source Yorkshire and North East GLH was added to STR: FXN_GAA.
Adult onset neurodegenerative disorder v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty Source Yorkshire and North East GLH was added to STR: CSTB_CCCCGCCCCGCG.
Adult onset neurodegenerative disorder v1.75 CACNA1A_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v1.75 C9orf72_GGGGCC Louise Daugherty Source Yorkshire and North East GLH was added to STR: C9orf72_GGGGCC.
Adult onset neurodegenerative disorder v1.75 ATXN7_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN3_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN3_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN2_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN1_ATTCT Louise Daugherty STR: ATXN1_ATTCT was added
STR: ATXN1_ATTCT was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for STR: ATXN1_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_ATTCT were set to Spinocerebellar ataxia 1 164400
Adult onset neurodegenerative disorder v1.75 ATXN10_CAG Louise Daugherty STR: ATXN10_CAG was added
STR: ATXN10_CAG was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for STR: ATXN10_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_CAG were set to Spinocerebellar ataxia 10 603516
Adult onset neurodegenerative disorder v1.75 ATN1_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATN1_CAG.
Adult onset neurodegenerative disorder v1.75 AR_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: AR_CAG.
Adult onset neurodegenerative disorder v1.74 ISCA-37478-Loss Louise Daugherty commented on Region: ISCA-37478-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.74 ISCA-37478-Gain Louise Daugherty commented on Region: ISCA-37478-Gain: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.74 ISCA-37468-Loss Louise Daugherty commented on Region: ISCA-37468-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.74 ISCA-37404-Loss Louise Daugherty commented on Region: ISCA-37404-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.74 VPS13C Louise Daugherty reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DNAJC13 Louise Daugherty reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 COQ2 Louise Daugherty reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 TUBA4A Louise Daugherty reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 TAF15 Louise Daugherty reviewed gene: TAF15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 PRPH Louise Daugherty reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NEK1 Louise Daugherty reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MATR3 Louise Daugherty reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 HNRNPA2B1 Louise Daugherty reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 EWSR1 Louise Daugherty reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DAO Louise Daugherty reviewed gene: DAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ARHGEF28 Louise Daugherty reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ANXA11 Louise Daugherty reviewed gene: ANXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 SS18L1 Louise Daugherty reviewed gene: SS18L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: 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.
Adult onset neurodegenerative disorder v1.74 YY1 Louise Daugherty commented on gene: YY1: 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.
Adult onset neurodegenerative disorder v1.74 XPR1 Louise Daugherty commented on gene: XPR1: 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.
Adult onset neurodegenerative disorder v1.74 WWOX Louise Daugherty commented on gene: WWOX: 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.
Adult onset neurodegenerative disorder v1.74 WFS1 Louise Daugherty commented on gene: WFS1: 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.
Adult onset neurodegenerative disorder v1.74 WDR81 Louise Daugherty commented on gene: WDR81: 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.
Adult onset neurodegenerative disorder v1.74 WDR73 Louise Daugherty commented on gene: WDR73: 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.
Adult onset neurodegenerative disorder v1.74 WDR45B Louise Daugherty commented on gene: WDR45B: 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.
Adult onset neurodegenerative disorder v1.74 WDR45 Louise Daugherty commented on gene: WDR45: 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.
Adult onset neurodegenerative disorder v1.74 WASHC5 Louise Daugherty commented on gene: WASHC5: 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.
Adult onset neurodegenerative disorder v1.74 VRK1 Louise Daugherty commented on gene: VRK1: 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.
Adult onset neurodegenerative disorder v1.74 VPS53 Louise Daugherty reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 VPS35 Louise Daugherty commented on gene: VPS35: 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.
Adult onset neurodegenerative disorder v1.74 VPS13D Louise Daugherty commented on gene: VPS13D: 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.
Adult onset neurodegenerative disorder v1.74 VPS13A Louise Daugherty commented on gene: VPS13A: 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.
Adult onset neurodegenerative disorder v1.74 VLDLR Louise Daugherty commented on gene: VLDLR: 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.
Adult onset neurodegenerative disorder v1.74 VCP Louise Daugherty commented on gene: VCP: 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.
Adult onset neurodegenerative disorder v1.74 VAPB Louise Daugherty commented on gene: VAPB: 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.
Adult onset neurodegenerative disorder v1.74 VAMP1 Louise Daugherty commented on gene: VAMP1: 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.
Adult onset neurodegenerative disorder v1.74 VAC14 Louise Daugherty commented on gene: VAC14: 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.
Adult onset neurodegenerative disorder v1.74 UBQLN2 Louise Daugherty commented on gene: UBQLN2: 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.
Adult onset neurodegenerative disorder v1.74 TYROBP Louise Daugherty commented on gene: TYROBP: 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.
Adult onset neurodegenerative disorder v1.74 TWNK Louise Daugherty commented on gene: TWNK: 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.
Adult onset neurodegenerative disorder v1.74 TUBB4A Louise Daugherty commented on gene: TUBB4A: 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.
Adult onset neurodegenerative disorder v1.74 TTPA Louise Daugherty commented on gene: TTPA: 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.
Adult onset neurodegenerative disorder v1.74 TTC19 Louise Daugherty commented on gene: TTC19: 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.
Adult onset neurodegenerative disorder v1.74 TTBK2 Louise Daugherty commented on gene: TTBK2: 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.
Adult onset neurodegenerative disorder v1.74 TSEN54 Louise Daugherty commented on gene: TSEN54: 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.
Adult onset neurodegenerative disorder v1.74 TSEN2 Louise Daugherty commented on gene: TSEN2: 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.
Adult onset neurodegenerative disorder v1.74 TREM2 Louise Daugherty commented on gene: TREM2: 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.
Adult onset neurodegenerative disorder v1.74 TPP1 Louise Daugherty commented on gene: TPP1: 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.
Adult onset neurodegenerative disorder v1.74 TOR1A Louise Daugherty commented on gene: TOR1A: 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.
Adult onset neurodegenerative disorder v1.74 TMEM240 Louise Daugherty commented on gene: TMEM240: 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.
Adult onset neurodegenerative disorder v1.74 THAP1 Louise Daugherty commented on gene: THAP1: 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.
Adult onset neurodegenerative disorder v1.74 TH Louise Daugherty commented on gene: TH: 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.
Adult onset neurodegenerative disorder v1.74 TGM6 Louise Daugherty commented on gene: TGM6: 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.
Adult onset neurodegenerative disorder v1.74 TBP Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 TBK1 Louise Daugherty commented on gene: TBK1: 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.
Adult onset neurodegenerative disorder v1.74 TARDBP Louise Daugherty commented on gene: TARDBP: 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.
Adult onset neurodegenerative disorder v1.74 TAF1 Louise Daugherty commented on gene: TAF1: 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.
Adult onset neurodegenerative disorder v1.74 SYNJ1 Louise Daugherty commented on gene: SYNJ1: 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.
Adult onset neurodegenerative disorder v1.74 SYNE1 Louise Daugherty commented on gene: SYNE1: 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.
Adult onset neurodegenerative disorder v1.74 STUB1 Louise Daugherty commented on gene: STUB1: 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.
Adult onset neurodegenerative disorder v1.74 SRD5A3 Louise Daugherty commented on gene: SRD5A3: 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.
Adult onset neurodegenerative disorder v1.74 SQSTM1 Louise Daugherty commented on gene: SQSTM1: 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.
Adult onset neurodegenerative disorder v1.74 SPTBN2 Louise Daugherty commented on gene: SPTBN2: 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.
Adult onset neurodegenerative disorder v1.74 SPR Louise Daugherty commented on gene: SPR: 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.
Adult onset neurodegenerative disorder v1.74 SPG7 Louise Daugherty commented on gene: SPG7: 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.
Adult onset neurodegenerative disorder v1.74 SPG21 Louise Daugherty commented on gene: SPG21: 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.
Adult onset neurodegenerative disorder v1.74 SPG11 Louise Daugherty commented on gene: SPG11: 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.
Adult onset neurodegenerative disorder v1.74 SPAST Louise Daugherty commented on gene: SPAST: 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.
Adult onset neurodegenerative disorder v1.74 SPART Louise Daugherty commented on gene: SPART: 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.
Adult onset neurodegenerative disorder v1.74 SOD1 Louise Daugherty commented on gene: SOD1: 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.
Adult onset neurodegenerative disorder v1.74 SNX14 Louise Daugherty commented on gene: SNX14: 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.
Adult onset neurodegenerative disorder v1.74 SNCB Louise Daugherty reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 SNCA Louise Daugherty commented on gene: SNCA: 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.
Adult onset neurodegenerative disorder v1.74 SLC9A6 Louise Daugherty commented on gene: SLC9A6: 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.
Adult onset neurodegenerative disorder v1.74 SLC6A5 Louise Daugherty commented on gene: SLC6A5: 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.
Adult onset neurodegenerative disorder v1.74 SLC6A3 Louise Daugherty commented on gene: SLC6A3: 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.
Adult onset neurodegenerative disorder v1.74 SLC52A3 Louise Daugherty commented on gene: SLC52A3: 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.
Adult onset neurodegenerative disorder v1.74 SLC52A2 Louise Daugherty commented on gene: SLC52A2: 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.
Adult onset neurodegenerative disorder v1.74 SLC39A14 Louise Daugherty commented on gene: SLC39A14: 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.
Adult onset neurodegenerative disorder v1.74 SLC30A10 Louise Daugherty commented on gene: SLC30A10: 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.
Adult onset neurodegenerative disorder v1.74 SLC2A1 Louise Daugherty commented on gene: SLC2A1: 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.
Adult onset neurodegenerative disorder v1.74 SLC25A46 Louise Daugherty commented on gene: SLC25A46: 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.
Adult onset neurodegenerative disorder v1.74 SLC20A2 Louise Daugherty commented on gene: SLC20A2: 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.
Adult onset neurodegenerative disorder v1.74 SLC1A4 Louise Daugherty commented on gene: SLC1A4: 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.
Adult onset neurodegenerative disorder v1.74 SLC1A3 Louise Daugherty commented on gene: SLC1A3: 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.
Adult onset neurodegenerative disorder v1.74 SLC16A2 Louise Daugherty commented on gene: SLC16A2: 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.
Adult onset neurodegenerative disorder v1.74 SIL1 Louise Daugherty commented on gene: SIL1: 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.
Adult onset neurodegenerative disorder v1.74 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: 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.
Adult onset neurodegenerative disorder v1.74 SGCE Louise Daugherty commented on gene: SGCE: 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.
Adult onset neurodegenerative disorder v1.74 SETX Louise Daugherty commented on gene: SETX: 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.
Adult onset neurodegenerative disorder v1.74 SERAC1 Louise Daugherty commented on gene: SERAC1: 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.
Adult onset neurodegenerative disorder v1.74 SEPSECS Louise Daugherty commented on gene: SEPSECS: 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.
Adult onset neurodegenerative disorder v1.74 SCN8A Louise Daugherty commented on gene: SCN8A: 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.
Adult onset neurodegenerative disorder v1.74 SCN1A Louise Daugherty commented on gene: SCN1A: 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.
Adult onset neurodegenerative disorder v1.74 SAR1B Louise Daugherty commented on gene: SAR1B: 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.
Adult onset neurodegenerative disorder v1.74 SACS Louise Daugherty commented on gene: SACS: 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.
Adult onset neurodegenerative disorder v1.74 RTN2 Louise Daugherty commented on gene: RTN2: 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.
Adult onset neurodegenerative disorder v1.74 RNF216 Louise Daugherty commented on gene: RNF216: 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.
Adult onset neurodegenerative disorder v1.74 RNF170 Louise Daugherty commented on gene: RNF170: 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.
Adult onset neurodegenerative disorder v1.74 REEP2 Louise Daugherty commented on gene: REEP2: 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.
Adult onset neurodegenerative disorder v1.74 REEP1 Louise Daugherty commented on gene: REEP1: 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.
Adult onset neurodegenerative disorder v1.74 RARS2 Louise Daugherty commented on gene: RARS2: 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.
Adult onset neurodegenerative disorder v1.74 RAB39B Louise Daugherty commented on gene: RAB39B: 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.
Adult onset neurodegenerative disorder v1.74 PSEN2 Louise Daugherty commented on gene: PSEN2: 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.
Adult onset neurodegenerative disorder v1.74 PSEN1 Louise Daugherty commented on gene: PSEN1: 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.
Adult onset neurodegenerative disorder v1.74 PRRT2 Louise Daugherty commented on gene: PRRT2: 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.
Adult onset neurodegenerative disorder v1.74 PRNP Louise Daugherty commented on gene: PRNP: 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.
Adult onset neurodegenerative disorder v1.74 PRKRA Louise Daugherty commented on gene: PRKRA: 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.
Adult onset neurodegenerative disorder v1.74 PRKN Louise Daugherty commented on gene: PRKN: 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.
Adult onset neurodegenerative disorder v1.74 PRKCG Louise Daugherty commented on gene: PRKCG: 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.
Adult onset neurodegenerative disorder v1.74 PPP2R2B Louise Daugherty reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 POLR3A Louise Daugherty commented on gene: POLR3A: 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.
Adult onset neurodegenerative disorder v1.74 POLG Louise Daugherty commented on gene: POLG: 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.
Adult onset neurodegenerative disorder v1.74 PNPLA6 Louise Daugherty commented on gene: PNPLA6: 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.
Adult onset neurodegenerative disorder v1.74 PNKP Louise Daugherty commented on gene: PNKP: 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.
Adult onset neurodegenerative disorder v1.74 PNKD Louise Daugherty commented on gene: PNKD: 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.
Adult onset neurodegenerative disorder v1.74 PMPCA Louise Daugherty commented on gene: PMPCA: 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.
Adult onset neurodegenerative disorder v1.74 PLP1 Louise Daugherty commented on gene: PLP1: 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.
Adult onset neurodegenerative disorder v1.74 PLA2G6 Louise Daugherty commented on gene: PLA2G6: 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.
Adult onset neurodegenerative disorder v1.74 PINK1 Louise Daugherty commented on gene: PINK1: 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.
Adult onset neurodegenerative disorder v1.74 PFN1 Louise Daugherty commented on gene: PFN1: 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.
Adult onset neurodegenerative disorder v1.74 PEX16 Louise Daugherty commented on gene: PEX16: 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.
Adult onset neurodegenerative disorder v1.74 PDYN Louise Daugherty commented on gene: PDYN: 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.
Adult onset neurodegenerative disorder v1.74 PDGFRB Louise Daugherty commented on gene: PDGFRB: 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.
Adult onset neurodegenerative disorder v1.74 PDGFB Louise Daugherty commented on gene: PDGFB: 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.
Adult onset neurodegenerative disorder v1.74 PAX6 Louise Daugherty commented on gene: PAX6: 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.
Adult onset neurodegenerative disorder v1.74 PARK7 Louise Daugherty commented on gene: PARK7: 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.
Adult onset neurodegenerative disorder v1.74 PANK2 Louise Daugherty commented on gene: PANK2: 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.
Adult onset neurodegenerative disorder v1.74 OPTN Louise Daugherty commented on gene: OPTN: 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.
Adult onset neurodegenerative disorder v1.74 OPHN1 Louise Daugherty commented on gene: OPHN1: 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.
Adult onset neurodegenerative disorder v1.74 OPA3 Louise Daugherty commented on gene: OPA3: 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.
Adult onset neurodegenerative disorder v1.74 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NR4A2 Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NPC2 Louise Daugherty commented on gene: NPC2: 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.
Adult onset neurodegenerative disorder v1.74 NPC1 Louise Daugherty commented on gene: NPC1: 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.
Adult onset neurodegenerative disorder v1.74 NOTCH3 Louise Daugherty commented on gene: NOTCH3: 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.
Adult onset neurodegenerative disorder v1.74 NOP56 Louise Daugherty reviewed gene: NOP56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NKX6-2 Louise Daugherty commented on gene: NKX6-2: 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.
Adult onset neurodegenerative disorder v1.74 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NIPA1 Louise Daugherty commented on gene: NIPA1: 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.
Adult onset neurodegenerative disorder v1.74 NHLRC1 Louise Daugherty commented on gene: NHLRC1: 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.
Adult onset neurodegenerative disorder v1.74 NEFH Louise Daugherty commented on gene: NEFH: 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.
Adult onset neurodegenerative disorder v1.74 NDUFA12 Louise Daugherty reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NAGLU Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MVK Louise Daugherty commented on gene: MVK: 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.
Adult onset neurodegenerative disorder v1.74 MTTP Louise Daugherty commented on gene: MTTP: 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.
Adult onset neurodegenerative disorder v1.74 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MT-ND6 Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: 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.
Adult onset neurodegenerative disorder v1.74 MRE11 Louise Daugherty commented on gene: MRE11: 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.
Adult onset neurodegenerative disorder v1.74 MR1 Louise Daugherty commented on gene: MR1: 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.
Adult onset neurodegenerative disorder v1.74 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MMADHC Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MMACHC Louise Daugherty commented on gene: MMACHC: 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.
Adult onset neurodegenerative disorder v1.74 MECR Louise Daugherty commented on gene: MECR: 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.
Adult onset neurodegenerative disorder v1.74 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MAT1A Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MARS2 Louise Daugherty commented on gene: MARS2: 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.
Adult onset neurodegenerative disorder v1.74 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MAPT Louise Daugherty commented on gene: MAPT: 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.
Adult onset neurodegenerative disorder v1.74 MAG Louise Daugherty commented on gene: MAG: 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.
Adult onset neurodegenerative disorder v1.74 LYST Louise Daugherty commented on gene: LYST: 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.
Adult onset neurodegenerative disorder v1.74 LRRK2 Louise Daugherty commented on gene: LRRK2: 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.
Adult onset neurodegenerative disorder v1.74 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 L1CAM Louise Daugherty commented on gene: L1CAM: 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.
Adult onset neurodegenerative disorder v1.74 KMT2B Louise Daugherty commented on gene: KMT2B: 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.
Adult onset neurodegenerative disorder v1.74 KLC4 Louise Daugherty reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 KIF5A Louise Daugherty commented on gene: KIF5A: 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.
Adult onset neurodegenerative disorder v1.74 KIF1C Louise Daugherty commented on gene: KIF1C: 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.
Adult onset neurodegenerative disorder v1.74 KIF1A Louise Daugherty commented on gene: KIF1A: 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.
Adult onset neurodegenerative disorder v1.74 KIDINS220 Louise Daugherty commented on gene: KIDINS220: 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.
Adult onset neurodegenerative disorder v1.74 KIAA1161 Louise Daugherty commented on gene: KIAA1161: 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.
Adult onset neurodegenerative disorder v1.74 KDM5C Louise Daugherty commented on gene: KDM5C: 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.
Adult onset neurodegenerative disorder v1.74 KCNQ3 Louise Daugherty commented on gene: KCNQ3: 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.
Adult onset neurodegenerative disorder v1.74 KCNQ2 Louise Daugherty commented on gene: KCNQ2: 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.
Adult onset neurodegenerative disorder v1.74 KCNK18 Louise Daugherty commented on gene: KCNK18: 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.
Adult onset neurodegenerative disorder v1.74 KCNJ10 Louise Daugherty commented on gene: KCNJ10: 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.
Adult onset neurodegenerative disorder v1.74 KCND3 Louise Daugherty commented on gene: KCND3: 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.
Adult onset neurodegenerative disorder v1.74 KCNC3 Louise Daugherty commented on gene: KCNC3: 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.
Adult onset neurodegenerative disorder v1.74 KCNA1 Louise Daugherty commented on gene: KCNA1: 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.
Adult onset neurodegenerative disorder v1.74 JPH3 Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ITPR1 Louise Daugherty commented on gene: ITPR1: 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.
Adult onset neurodegenerative disorder v1.74 ITM2B Louise Daugherty commented on gene: ITM2B: 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.
Adult onset neurodegenerative disorder v1.74 IPPK Louise Daugherty commented on gene: IPPK: 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.
Adult onset neurodegenerative disorder v1.74 IBA57 Louise Daugherty commented on gene: IBA57: 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.
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 v1.74 HTRA2 Louise Daugherty commented on gene: HTRA2: 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.
Adult onset neurodegenerative disorder v1.74 HTRA1 Louise Daugherty commented on gene: HTRA1: 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.
Adult onset neurodegenerative disorder v1.74 HSPD1 Louise Daugherty commented on gene: HSPD1: 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.
Adult onset neurodegenerative disorder v1.74 HPRT1 Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 HPCA Louise Daugherty commented on gene: HPCA: 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.
Adult onset neurodegenerative disorder v1.74 HNRNPA1 Louise Daugherty commented on gene: HNRNPA1: 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.
Adult onset neurodegenerative disorder v1.74 HFE Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 HEXB Louise Daugherty commented on gene: HEXB: 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.
Adult onset neurodegenerative disorder v1.74 HEXA Louise Daugherty commented on gene: HEXA: 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.
Adult onset neurodegenerative disorder v1.74 HACE1 Louise Daugherty commented on gene: HACE1: 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.
Adult onset neurodegenerative disorder v1.74 GRN Louise Daugherty commented on gene: GRN: 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.
Adult onset neurodegenerative disorder v1.74 GRM1 Louise Daugherty commented on gene: GRM1: 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.
Adult onset neurodegenerative disorder v1.74 GRID2 Louise Daugherty commented on gene: GRID2: 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.
Adult onset neurodegenerative disorder v1.74 GPAA1 Louise Daugherty commented on gene: GPAA1: 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.
Adult onset neurodegenerative disorder v1.74 GOSR2 Louise Daugherty commented on gene: GOSR2: 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.
Adult onset neurodegenerative disorder v1.74 GNAO1 Louise Daugherty commented on gene: GNAO1: 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.
Adult onset neurodegenerative disorder v1.74 GNAL Louise Daugherty commented on gene: GNAL: 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.
Adult onset neurodegenerative disorder v1.74 GLRB Louise Daugherty commented on gene: GLRB: 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.
Adult onset neurodegenerative disorder v1.74 GLRA1 Louise Daugherty commented on gene: GLRA1: 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.
Adult onset neurodegenerative disorder v1.74 GJC2 Louise Daugherty commented on gene: GJC2: 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.
Adult onset neurodegenerative disorder v1.74 GIGYF2 Louise Daugherty reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 GFAP Louise Daugherty commented on gene: GFAP: 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.
Adult onset neurodegenerative disorder v1.74 GCH1 Louise Daugherty commented on gene: GCH1: 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.
Adult onset neurodegenerative disorder v1.74 GCDH Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 GBA2 Louise Daugherty commented on gene: GBA2: 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.
Adult onset neurodegenerative disorder v1.74 GBA Louise Daugherty commented on gene: GBA: 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.
Adult onset neurodegenerative disorder v1.74 GAMT Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 GAD1 Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FXN Louise Daugherty commented on gene: FXN: 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.
Adult onset neurodegenerative disorder v1.74 FUS Louise Daugherty commented on gene: FUS: 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.
Adult onset neurodegenerative disorder v1.74 FTL Louise Daugherty commented on gene: FTL: 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.
Adult onset neurodegenerative disorder v1.74 FOXRED1 Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FOXG1 Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FOLR1 Louise Daugherty commented on gene: FOLR1: 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.
Adult onset neurodegenerative disorder v1.74 FMR1 Louise Daugherty commented on gene: FMR1: 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.
Adult onset neurodegenerative disorder v1.74 FLVCR1 Louise Daugherty commented on gene: FLVCR1: 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.
Adult onset neurodegenerative disorder v1.74 FIG4 Louise Daugherty commented on gene: FIG4: 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.
Adult onset neurodegenerative disorder v1.74 FGF14 Louise Daugherty commented on gene: FGF14: 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.
Adult onset neurodegenerative disorder v1.74 FBXO7 Louise Daugherty commented on gene: FBXO7: 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.
Adult onset neurodegenerative disorder v1.74 FASTKD2 Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FARS2 Louise Daugherty commented on gene: FARS2: 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.
Adult onset neurodegenerative disorder v1.74 FA2H Louise Daugherty commented on gene: FA2H: 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.
Adult onset neurodegenerative disorder v1.74 EXOSC3 Louise Daugherty commented on gene: EXOSC3: 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.
Adult onset neurodegenerative disorder v1.74 ERLIN2 Louise Daugherty commented on gene: ERLIN2: 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.
Adult onset neurodegenerative disorder v1.74 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ERBB4 Louise Daugherty reviewed gene: ERBB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 EPM2A Louise Daugherty commented on gene: EPM2A: 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.
Adult onset neurodegenerative disorder v1.74 ENTPD1 Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ELOVL5 Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ELOVL4 Louise Daugherty commented on gene: ELOVL4: 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.
Adult onset neurodegenerative disorder v1.74 EIF4G1 Louise Daugherty reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 EIF2B5 Louise Daugherty commented on gene: EIF2B5: 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.
Adult onset neurodegenerative disorder v1.74 EIF2B4 Louise Daugherty commented on gene: EIF2B4: 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.
Adult onset neurodegenerative disorder v1.74 EIF2B3 Louise Daugherty commented on gene: EIF2B3: 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.
Adult onset neurodegenerative disorder v1.74 EIF2B2 Louise Daugherty commented on gene: EIF2B2: 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.
Adult onset neurodegenerative disorder v1.74 EIF2B1 Louise Daugherty commented on gene: EIF2B1: 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.
Adult onset neurodegenerative disorder v1.74 EARS2 Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DRD5 Louise Daugherty reviewed gene: DRD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DRD2 Louise Daugherty commented on gene: DRD2: 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.
Adult onset neurodegenerative disorder v1.74 DNMT1 Louise Daugherty commented on gene: DNMT1: 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.
Adult onset neurodegenerative disorder v1.74 DNAJC6 Louise Daugherty commented on gene: DNAJC6: 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.
Adult onset neurodegenerative disorder v1.74 DNAJC5 Louise Daugherty commented on gene: DNAJC5: 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.
Adult onset neurodegenerative disorder v1.74 DNAJC19 Louise Daugherty commented on gene: DNAJC19: 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.
Adult onset neurodegenerative disorder v1.74 DMXL2 Louise Daugherty commented on gene: DMXL2: 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.
Adult onset neurodegenerative disorder v1.74 DLAT Louise Daugherty commented on gene: DLAT: 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.
Adult onset neurodegenerative disorder v1.74 DDHD2 Louise Daugherty commented on gene: DDHD2: 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.
Adult onset neurodegenerative disorder v1.74 DDHD1 Louise Daugherty commented on gene: DDHD1: 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.
Adult onset neurodegenerative disorder v1.74 DDC Louise Daugherty commented on gene: DDC: 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.
Adult onset neurodegenerative disorder v1.74 DCTN1 Louise Daugherty commented on gene: DCTN1: 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.
Adult onset neurodegenerative disorder v1.74 DCAF17 Louise Daugherty commented on gene: DCAF17: 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.
Adult onset neurodegenerative disorder v1.74 DARS2 Louise Daugherty commented on gene: DARS2: 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.
Adult onset neurodegenerative disorder v1.74 DARS Louise Daugherty commented on gene: DARS: 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.
Adult onset neurodegenerative disorder v1.74 DAB1 Louise Daugherty commented on gene: DAB1: 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.
Adult onset neurodegenerative disorder v1.74 CYP7B1 Louise Daugherty commented on gene: CYP7B1: 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.
Adult onset neurodegenerative disorder v1.74 CYP2U1 Louise Daugherty commented on gene: CYP2U1: 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.
Adult onset neurodegenerative disorder v1.74 CYP27A1 Louise Daugherty commented on gene: CYP27A1: 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.
Adult onset neurodegenerative disorder v1.74 CWF19L1 Louise Daugherty commented on gene: CWF19L1: 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.
Adult onset neurodegenerative disorder v1.74 CSTB Louise Daugherty commented on gene: CSTB: 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.
Adult onset neurodegenerative disorder v1.74 CSF1R Louise Daugherty commented on gene: CSF1R: 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.
Adult onset neurodegenerative disorder v1.74 CP Louise Daugherty commented on gene: CP: 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.
Adult onset neurodegenerative disorder v1.74 COX20 Louise Daugherty commented on gene: COX20: 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.
Adult onset neurodegenerative disorder v1.74 COQ8A Louise Daugherty commented on gene: COQ8A: 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.
Adult onset neurodegenerative disorder v1.74 COG5 Louise Daugherty commented on gene: COG5: 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.
Adult onset neurodegenerative disorder v1.74 COASY Louise Daugherty commented on gene: COASY: 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.
Adult onset neurodegenerative disorder v1.74 CLP1 Louise Daugherty commented on gene: CLP1: 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.
Adult onset neurodegenerative disorder v1.74 CLN6 Louise Daugherty commented on gene: CLN6: 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.
Adult onset neurodegenerative disorder v1.74 CLCN2 Louise Daugherty commented on gene: CLCN2: 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.
Adult onset neurodegenerative disorder v1.74 CIZ1 Louise Daugherty commented on gene: CIZ1: 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.
Adult onset neurodegenerative disorder v1.74 CHMP2B Louise Daugherty commented on gene: CHMP2B: 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.
Adult onset neurodegenerative disorder v1.74 CHMP1A Louise Daugherty commented on gene: CHMP1A: 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.
Adult onset neurodegenerative disorder v1.74 CHCHD2 Louise Daugherty commented on gene: CHCHD2: 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.
Adult onset neurodegenerative disorder v1.74 CHCHD10 Louise Daugherty commented on gene: CHCHD10: 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.
Adult onset neurodegenerative disorder v1.74 CDK16 Louise Daugherty commented on gene: CDK16: 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.
Adult onset neurodegenerative disorder v1.74 CCT5 Louise Daugherty commented on gene: CCT5: 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.
Adult onset neurodegenerative disorder v1.74 CCNF Louise Daugherty commented on gene: CCNF: 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.
Adult onset neurodegenerative disorder v1.74 CCDC88C Louise Daugherty commented on gene: CCDC88C: 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.
Adult onset neurodegenerative disorder v1.74 CASK Louise Daugherty commented on gene: CASK: 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.
Adult onset neurodegenerative disorder v1.74 CAPN1 Louise Daugherty commented on gene: CAPN1: 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.
Adult onset neurodegenerative disorder v1.74 CAMTA1 Louise Daugherty commented on gene: CAMTA1: 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.
Adult onset neurodegenerative disorder v1.74 CACNB4 Louise Daugherty commented on gene: CACNB4: 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.
Adult onset neurodegenerative disorder v1.74 CACNA1G Louise Daugherty commented on gene: CACNA1G: 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.
Adult onset neurodegenerative disorder v1.74 CACNA1A Louise Daugherty commented on gene: CACNA1A: 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.
Adult onset neurodegenerative disorder v1.74 CA8 Louise Daugherty commented on gene: CA8: 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.
Adult onset neurodegenerative disorder v1.74 C9orf72 Louise Daugherty commented on gene: C9orf72: 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.
Adult onset neurodegenerative disorder v1.74 C19orf12 Louise Daugherty commented on gene: C19orf12: 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.
Adult onset neurodegenerative disorder v1.74 C12orf65 Louise Daugherty commented on gene: C12orf65: 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.
Adult onset neurodegenerative disorder v1.74 BSCL2 Louise Daugherty commented on gene: BSCL2: 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.
Adult onset neurodegenerative disorder v1.74 BEAN1 Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 BCAP31 Louise Daugherty commented on gene: BCAP31: 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.
Adult onset neurodegenerative disorder v1.74 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: 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.
Adult onset neurodegenerative disorder v1.74 AUH Louise Daugherty commented on gene: AUH: 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.
Adult onset neurodegenerative disorder v1.74 ATXN8 Louise Daugherty commented on gene: ATXN8: 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.
Adult onset neurodegenerative disorder v1.74 ATXN7 Louise Daugherty commented on gene: ATXN7: 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.
Adult onset neurodegenerative disorder v1.74 ATXN3 Louise Daugherty commented on gene: ATXN3: 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.
Adult onset neurodegenerative disorder v1.74 ATXN2 Louise Daugherty commented on gene: ATXN2: 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.
Adult onset neurodegenerative disorder v1.74 ATXN10 Louise Daugherty commented on gene: ATXN10: 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.
Adult onset neurodegenerative disorder v1.74 ATXN1 Louise Daugherty commented on gene: ATXN1: 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.
Adult onset neurodegenerative disorder v1.74 ATP8A2 Louise Daugherty commented on gene: ATP8A2: 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.
Adult onset neurodegenerative disorder v1.74 ATP7B Louise Daugherty commented on gene: ATP7B: 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.
Adult onset neurodegenerative disorder v1.74 ATP6AP2 Louise Daugherty commented on gene: ATP6AP2: 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.
Adult onset neurodegenerative disorder v1.74 ATP2B3 Louise Daugherty commented on gene: ATP2B3: 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.
Adult onset neurodegenerative disorder v1.74 ATP1A3 Louise Daugherty commented on gene: ATP1A3: 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.
Adult onset neurodegenerative disorder v1.74 ATP1A2 Louise Daugherty commented on gene: ATP1A2: 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.
Adult onset neurodegenerative disorder v1.74 ATP13A2 Louise Daugherty commented on gene: ATP13A2: 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.
Adult onset neurodegenerative disorder v1.74 ATN1 Louise Daugherty commented on gene: ATN1: 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.
Adult onset neurodegenerative disorder v1.74 ATM Louise Daugherty commented on gene: ATM: 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.
Adult onset neurodegenerative disorder v1.74 ATL1 Louise Daugherty commented on gene: ATL1: 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.
Adult onset neurodegenerative disorder v1.74 ATCAY Louise Daugherty commented on gene: ATCAY: 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.
Adult onset neurodegenerative disorder v1.74 ARX Louise Daugherty commented on gene: ARX: 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.
Adult onset neurodegenerative disorder v1.74 ARSI Louise Daugherty commented on gene: ARSI: 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.
Adult onset neurodegenerative disorder v1.74 ARSA Louise Daugherty commented on gene: ARSA: 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.
Adult onset neurodegenerative disorder v1.74 ARL6IP1 Louise Daugherty commented on gene: ARL6IP1: 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.
Adult onset neurodegenerative disorder v1.74 ARG1 Louise Daugherty commented on gene: ARG1: 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.
Adult onset neurodegenerative disorder v1.74 AR Louise Daugherty reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 APTX Louise Daugherty commented on gene: APTX: 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.
Adult onset neurodegenerative disorder v1.74 APP Louise Daugherty commented on gene: APP: 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.
Adult onset neurodegenerative disorder v1.74 AP5Z1 Louise Daugherty commented on gene: AP5Z1: 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.
Adult onset neurodegenerative disorder v1.74 AP4S1 Louise Daugherty commented on gene: AP4S1: 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.
Adult onset neurodegenerative disorder v1.74 AP4M1 Louise Daugherty commented on gene: AP4M1: 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.
Adult onset neurodegenerative disorder v1.74 AP4E1 Louise Daugherty commented on gene: AP4E1: 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.
Adult onset neurodegenerative disorder v1.74 AP4B1 Louise Daugherty commented on gene: AP4B1: 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.
Adult onset neurodegenerative disorder v1.74 AP1S2 Louise Daugherty commented on gene: AP1S2: 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.
Adult onset neurodegenerative disorder v1.74 ANO3 Louise Daugherty commented on gene: ANO3: 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.
Adult onset neurodegenerative disorder v1.74 ANO10 Louise Daugherty commented on gene: ANO10: 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.
Adult onset neurodegenerative disorder v1.74 ANG Louise Daugherty commented on gene: ANG: 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.
Adult onset neurodegenerative disorder v1.74 AMPD2 Louise Daugherty commented on gene: AMPD2: 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.
Adult onset neurodegenerative disorder v1.74 ALS2 Louise Daugherty commented on gene: ALS2: 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.
Adult onset neurodegenerative disorder v1.74 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: 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.
Adult onset neurodegenerative disorder v1.74 ALAS2 Louise Daugherty commented on gene: ALAS2: 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.
Adult onset neurodegenerative disorder v1.74 AIMP1 Louise Daugherty commented on gene: AIMP1: 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.
Adult onset neurodegenerative disorder v1.74 AFG3L2 Louise Daugherty commented on gene: AFG3L2: 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.
Adult onset neurodegenerative disorder v1.74 ADCY5 Louise Daugherty commented on gene: ADCY5: 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.
Adult onset neurodegenerative disorder v1.74 ADAR Louise Daugherty commented on gene: ADAR: 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.
Adult onset neurodegenerative disorder v1.74 ACTB Louise Daugherty commented on gene: ACTB: 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.
Adult onset neurodegenerative disorder v1.74 ABHD12 Louise Daugherty commented on gene: ABHD12: 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.
Adult onset neurodegenerative disorder v1.74 ABCD1 Louise Daugherty commented on gene: ABCD1: 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.
Adult onset neurodegenerative disorder v1.74 ABCB7 Louise Daugherty commented on gene: ABCB7: 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.
Adult onset neurodegenerative disorder v1.74 AARS Louise Daugherty commented on gene: AARS: 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.
Adult onset neurodegenerative disorder v1.74 AAAS Louise Daugherty commented on gene: AAAS: 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.
Adult onset neurodegenerative disorder v1.72 VPS13C Nick Beauchamp reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: 26942284, 28862745, 28137300; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC13 Nick Beauchamp reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: 24218364, 30537300, 25186792; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 COQ2 Nick Beauchamp reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23758206; Phenotypes: Multiple system atrophy, susceptibility to,146500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TUBA4A Nick Beauchamp reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: 25374358, 25893256, 28069311; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TAF15 Nick Beauchamp reviewed gene: TAF15: Rating: GREEN; Mode of pathogenicity: ; Publications: 22065782, 26601740; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRPH Nick Beauchamp reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: 15446584, 25299611, 15322088; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 170710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NEK1 Nick Beauchamp reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26945885, 30093141, 29650794; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 24, 617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 MATR3 Nick Beauchamp reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 28029397, 26493020, 25771394; Phenotypes: Amyotrophic lateral sclerosis 21; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HNRNPA2B1 Nick Beauchamp reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23455423, 27773581, 25299611; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EWSR1 Nick Beauchamp reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22454397, 29170628; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DAO Nick Beauchamp reviewed gene: DAO: Rating: GREEN; Mode of pathogenicity: ; Publications: 20368421, 29194436; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ARHGEF28 Nick Beauchamp reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: 28709720, 27154192, 23286752, 24712971; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ANXA11 Nick Beauchamp reviewed gene: ANXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28469040, 29845112, 30337194; Phenotypes: Amytrophic lateral sclerosis 23, 617839; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SS18L1 Nick Beauchamp reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708140, 24360741; Phenotypes: Amyotrophic lateral sclerosis, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 YY1 Nick Beauchamp reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 XPR1 Nick Beauchamp reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938945, 26231937; Phenotypes: Basal ganglia calcification, idiopathic, 6, 605237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 WWOX Nick Beauchamp reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WFS1 Nick Beauchamp reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR81 Nick Beauchamp reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR73 Nick Beauchamp reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR45 Nick Beauchamp reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176820, 23435086; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 VRK1 Nick Beauchamp reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, 607596, Amyotrophic lateral sclerosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VPS53 Nick Beauchamp reviewed gene: VPS53: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2E, 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VPS35 Nick Beauchamp reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: 18342564, 21763482; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VPS13D Nick Beauchamp reviewed gene: VPS13D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VPS13A Nick Beauchamp reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VLDLR Nick Beauchamp reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VCP Nick Beauchamp reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: 21145000, 23498975; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VAPB Nick Beauchamp reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15372378, 18555774; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 VAC14 Nick Beauchamp reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset, 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 UBQLN2 Nick Beauchamp reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21857683, 23541532; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TYROBP Nick Beauchamp reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10888890, 12370476; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TWNK Nick Beauchamp reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19513767; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TUBB4A Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25374358; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TTPA Nick Beauchamp reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TTC19 Nick Beauchamp reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: 23532514, 21278747; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TTBK2 Nick Beauchamp reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TSEN54 Nick Beauchamp reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TSEN2 Nick Beauchamp reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TREM2 Nick Beauchamp reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15883308, 23318515; Phenotypes: Dementia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TPP1 Nick Beauchamp reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TOR1A Nick Beauchamp reviewed gene: TOR1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TMEM240 Nick Beauchamp reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: 18418688, 25070513; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 THAP1 Nick Beauchamp reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Dystonia 6, torsion, 602629, DYT6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TH Nick Beauchamp reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Segawa syndrome, DOPA-responsive dystonia, infantile parkinsonism, Segawa syndrome, recessive, 605407, paediatric form of dopa responsive dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TGM6 Nick Beauchamp reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35, 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TBP Nick Beauchamp reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 17, 607136, Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600, {Parkinson disease, susceptibility to}, 168600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TBK1 Nick Beauchamp reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25700176; Phenotypes: FTLD, ALS, fronto-temporal dementia, Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TARDBP Nick Beauchamp reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19379745, 18372902; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal Dementia, Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TAF1 Nick Beauchamp reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11714101, 17273961; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation), Dystonia-Parkinsonism, X-linked, 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SYNJ1 Nick Beauchamp reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23804563, 23804577; Phenotypes: Parkinson disease 20, early-onset, 615530, Early Onset Complex Disease, juvenile Parkinsonism, Parkinson disease 20, early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SYNE1 Nick Beauchamp reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27197992, 25681989, 27086870; Phenotypes: Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 STUB1 Nick Beauchamp reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30381368, 25592071; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16, 615768; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SRD5A3 Nick Beauchamp reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SQSTM1 Nick Beauchamp reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22084127, 22972638; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPTBN2 Nick Beauchamp reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, Spinocerebellar Ataxia, Dominant, Spinocerebellar ataxia, autosomal recessive 14, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), Spinocerebellar ataxia 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SPR Nick Beauchamp reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, 607259, complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: 14564668, 28752238, 24451228; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 18067136, 22554690; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: 16240363, 25700176; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPART Nick Beauchamp reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Troyer syndrome, 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SOD1 Nick Beauchamp reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24501761, 25439728; Phenotypes: Amyotrophic lateral sclerosis 1, 105400, amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SNX14 Nick Beauchamp reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia (#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SNCB Nick Beauchamp reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: ; Publications: 15365127, 21045828; Phenotypes: Dementia, Lewy body, 127750; Mode of inheritance: Unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SNCA Nick Beauchamp reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4), Parkinson disease 4, 605543, Parkinson disease 1, 168601, Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC9A6 Nick Beauchamp reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 SLC6A5 Nick Beauchamp reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC6A3 Nick Beauchamp reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21777827, 19478460; Phenotypes: Parkinsonism-dystonia, infantile, 613135, {Nicotine dependence, protection against}, 188890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC52A3 Nick Beauchamp reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 SLC52A2 Nick Beauchamp reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC39A14 Nick Beauchamp reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: ; Publications: 27231142; Phenotypes: Hypermanganesemia with dystonia 2, 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC30A10 Nick Beauchamp reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 22341971, 30272946; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC2A1 Nick Beauchamp reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC25A46 Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC20A2 Nick Beauchamp reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24135862, 24065723; Phenotypes: Basal ganglia calcification, idiopathic, 1, 158378; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC1A3 Nick Beauchamp reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPISODIC ATAXIA, TYPE 6, Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 SIL1 Nick Beauchamp reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SIGMAR1 Nick Beauchamp reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21842496, 27821430, 21031579; Phenotypes: Amyotrophic lateral sclerosis 16, juvenile, 614373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SGCE Nick Beauchamp reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 23332219, 22626943; Phenotypes: Myoclonus dystonia syndrome, Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Adult onset neurodegenerative disorder v1.72 SETX Nick Beauchamp reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: 15106121, 21438761; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Ataxia-ocular apraxia-2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SEPSECS Nick Beauchamp reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D (613811); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SCN8A Nick Beauchamp reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Cognitive impairment with or without cerebellar ataxia, 614306, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 SCN1A Nick Beauchamp reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: several epilepsy, convulsion and migraine disorders., familial hemiplegic migraine 3, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 SAR1B Nick Beauchamp reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SACS Nick Beauchamp reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 RNF216 Nick Beauchamp reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: 11932290, 23656588; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 RNF170 Nick Beauchamp reviewed gene: RNF170: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, sensory, 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 RARS2 Nick Beauchamp reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 RAB39B Nick Beauchamp reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434005, 26399558, 28851564; Phenotypes: early-onset parkinsonism and intellectual disability, ?Waisman syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PSEN2 Nick Beauchamp reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7638622, 12925374; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PSEN1 Nick Beauchamp reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7596406, 16033913; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRRT2 Nick Beauchamp reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 PRNP Nick Beauchamp reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10953183, 16831973; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRKRA Nick Beauchamp reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 18243799; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRKN Nick Beauchamp reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9560156, 12056932; Phenotypes: Parkinson disease, juvenile, type 2, Dystonia, Parkinson Disease 2, Autosomal Recessive Juvenile, juvenile parkinsonism/dystonia, Parkinson Disease, Juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRKCG Nick Beauchamp reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603387, 12644968; Phenotypes: Spinocerebellar ataxia 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PPP2R2B Nick Beauchamp reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia12,604326; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 POLR3A Nick Beauchamp reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal Recessive Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 POLG Nick Beauchamp reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29749493, 18313024, 24355708; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PNKP Nick Beauchamp reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with oculomotor apraxia 4 (#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PNKD Nick Beauchamp reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paroxysmal Nonkinesigenic Dyskinesia, PAROXYSMAL NONKINESIGENIC DYSKINESIA 1, Paroxysmal nonkinesigenic dyskinesia, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 PMPCA Nick Beauchamp reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 PLA2G6 Nick Beauchamp reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: 18799783, 16783378; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PINK1 Nick Beauchamp reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15087508, 15349870; Phenotypes: Parkinson disease 6, early onset, 605909, Dystonia, Parkinson Disease 6, Autosomal Recessive Early-Onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PFN1 Nick Beauchamp reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22801503, 24920614; Phenotypes: Amyotrophic lateral sclerosis 18, 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PEX16 Nick Beauchamp reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PDYN Nick Beauchamp reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21035104, 15306549; Phenotypes: Spinocerebellar ataxia 23; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PDGFRB Nick Beauchamp reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065723, 24796542; Phenotypes: Basal ganglia calcification, idiopathic, 4, 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 PDGFB Nick Beauchamp reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23913003, 29955172; Phenotypes: Basal ganglia calcification, idiopathic, 5 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 PAX6 Nick Beauchamp reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, Cerebellar Ataxia, And Mental Retardation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PARK7 Nick Beauchamp reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 11462174, 12446870; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PANK2 Nick Beauchamp reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11479594, 15911822; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 OPTN Nick Beauchamp reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20428114, 23889540; Phenotypes: Glaucoma 1, open angle, E, 137760, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 OPHN1 Nick Beauchamp reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 OPA3 Nick Beauchamp reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NR4A2 Nick Beauchamp reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16532445, 12496759, 19429166, 28385514; Phenotypes: Parkinson Disease, Dominant/Recessive (susceptibility to); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 NPC2 Nick Beauchamp reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Niemann-Pick disease type C2 (#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NPC1 Nick Beauchamp reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease types C1 and D (#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NOTCH3 Nick Beauchamp reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NOP56 Nick Beauchamp reviewed gene: NOP56: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia36,614153; Mode of inheritance: Other - please specifiy in evaluation comments
Adult onset neurodegenerative disorder v1.72 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NKX2-1 Nick Beauchamp reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chorea, hereditary benign 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 NHLRC1 Nick Beauchamp reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NEFH Nick Beauchamp reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NDUFA12 Nick Beauchamp reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome due to mitochondrial complex 1 deficiency 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NAGLU Nick Beauchamp reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensory neuropathy turning into a mild sensory ataxia (AD), Sanfilippo syndrome B (AR) (OMIM #252920); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MVK Nick Beauchamp reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MTTP Nick Beauchamp reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4,, Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MT-ND6 Nick Beauchamp reviewed gene: MT-ND6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber Optic Atrophy And Dystonia; Mode of inheritance: MITOCHONDRIAL
Adult onset neurodegenerative disorder v1.72 MT-ATP6 Nick Beauchamp reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Ataxia, and Retinitis Pigmentosa; Mode of inheritance: MITOCHONDRIAL
Adult onset neurodegenerative disorder v1.72 MRE11 Nick Beauchamp reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder, Ataxia-Telangiectasia-Like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MR1 Nick Beauchamp reviewed gene: MR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Paroxysmal/Episodic dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 MPV17 Nick Beauchamp reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 MMADHC Nick Beauchamp reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methylmalonic aciduria, cblD type, variant 2, 277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MMACHC Nick Beauchamp reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MECR Nick Beauchamp reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MCOLN1 Nick Beauchamp reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MAT1A Nick Beauchamp reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16672289, 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 MARS Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 MAPT Nick Beauchamp reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9641683, 9789048; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 MAG Nick Beauchamp reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 LYST Nick Beauchamp reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 LRRK2 Nick Beauchamp reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15541308, 7898705; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 L2HGDH Nick Beauchamp reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 KMT2B Nick Beauchamp reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29566793, 29954873; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 KIAA1161 Nick Beauchamp reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: 29910000, 30656188; Phenotypes: Autosomal Recessive Primary Familial Brain Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 KCNQ3 Nick Beauchamp reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 KCNQ2 Nick Beauchamp reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 KCNK18 Nick Beauchamp reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 KCNJ10 Nick Beauchamp reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KCND3 Nick Beauchamp reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia19,607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 KCNC3 Nick Beauchamp reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501573; Phenotypes: Spinocerebellar ataxia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 KCNA1 Nick Beauchamp reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome,, EPISODIC ATAXIA, TYPE 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 JPH3 Nick Beauchamp reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease-like 2 606438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ITPR1 Nick Beauchamp reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 29, Spinocerebellar ataxia 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ITM2B Nick Beauchamp reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391242, 29525180; Phenotypes: Dementia, familial British, 176500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 IPPK Nick Beauchamp reviewed gene: IPPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v1.72 HTRA2 Nick Beauchamp reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18364387, 15961413; Phenotypes: Parkinson Disease, Dominant, Parkinson disease 13, 610297, 3-methylglutaconic aciduria, type VIII 617248; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HTRA1 Nick Beauchamp reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19387015, 24500651; Phenotypes: CARASIL syndrome 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: 18571143, 11898127; Phenotypes: Spastic paraplegia 13, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 HPRT1 Nick Beauchamp reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 HPCA Nick Beauchamp reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 HNRNPA1 Nick Beauchamp reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23455423; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HFE Nick Beauchamp reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: 17828789; Phenotypes: ; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 HEXB Nick Beauchamp reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24263030, 20798201; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HEXA Nick Beauchamp reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28739864, 27033294; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GRN Nick Beauchamp reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GRM1 Nick Beauchamp reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GRID2 Nick Beauchamp reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GPAA1 Nick Beauchamp reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GOSR2 Nick Beauchamp reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GNAO1 Nick Beauchamp reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with involuntary movements, 617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GNAL Nick Beauchamp reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GLRB Nick Beauchamp reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GLRA1 Nick Beauchamp reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia, hereditary 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GIGYF2 Nick Beauchamp reviewed gene: GIGYF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18358451, 26134514, 20178831; Phenotypes: {Parkinson disease 11}, Susceptibility to Parkinson disease 11, 607688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GFAP Nick Beauchamp reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26023202, 29095329; Phenotypes: Autosomal Dominant Ataxia, Alexander disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25497597, 24993959; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GCDH Nick Beauchamp reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 23884036, 26316201; Phenotypes: Glutaricaciduria, type I, 231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GBA Nick Beauchamp reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 15525722, 17620502; Phenotypes: {Parkinson disease, late-onset, susceptibility to}, 168600, Gaucher disease, type I, 230800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GAMT Nick Beauchamp reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, 612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FXN Nick Beauchamp reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreichataxia,229300Friedreichataxiawithretainedreflexes, 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FUS Nick Beauchamp reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19251627, 19251628; Phenotypes: Dementia, Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FTL Nick Beauchamp reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FOXRED1 Nick Beauchamp reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FOXG1 Nick Beauchamp reviewed gene: FOXG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rett syndrome, congenital variant, 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 FOLR1 Nick Beauchamp reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: 11438811, 12746423; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FMR1 Nick Beauchamp reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: ; Publications: 28176767; Phenotypes: FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI), males with a tremor phenotype, FragileXtremor/ataxiasyndrome,300623; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 FLVCR1 Nick Beauchamp reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FIG4 Nick Beauchamp reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19118816, 23888880; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FGF14 Nick Beauchamp reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 16211615; Phenotypes: Spinocerebellar ataxia 27; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FBXO7 Nick Beauchamp reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513678, 19038853; Phenotypes: Parkinson Disease, Recessive, Dystonia, juvenile parkinsonism, parkinsonian-pyramidal syndrome, Parkinson disease 15, autosomal recessive, 260300, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FASTKD2 Nick Beauchamp reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 EXOSC3 Nick Beauchamp reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERCC6 Nick Beauchamp reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: 18185538; Phenotypes: Cockayne syndrome, type B, 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERBB4 Nick Beauchamp reviewed gene: ERBB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24119685; Phenotypes: Amyotrophic lateral sclerosis 19, 615515; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EPM2A Nick Beauchamp reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia64, 615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ELOVL5 Nick Beauchamp reviewed gene: ELOVL5: Rating: RED; Mode of pathogenicity: ; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 36, 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ELOVL4 Nick Beauchamp reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 5048218, 24566826; Phenotypes: Spinocerebellar ataxia 34 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF4G1 Nick Beauchamp reviewed gene: EIF4G1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907011; Phenotypes: Parkinsons disease 18, 614251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 EIF2B5 Nick Beauchamp reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B4 Nick Beauchamp reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B3 Nick Beauchamp reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B2 Nick Beauchamp reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B1 Nick Beauchamp reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EARS2 Nick Beauchamp reviewed gene: EARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DYNC1H1 Nick Beauchamp reviewed gene: DYNC1H1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth, SMA, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DRD5 Nick Beauchamp reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Blepharospasm, primary benign}, 606798; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 DRD2 Nick Beauchamp reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 DNMT1 Nick Beauchamp reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22328086, 8747854; Phenotypes: Dementia, Deafness, and Sensory Neuropathy, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC6 Nick Beauchamp reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22563501, 23211418; Phenotypes: Parkinson disease 19b, early-onset, Parkinson disease 19, juvenile-onset, 615528, Parkinson disease 19a, juvenile-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC5 Nick Beauchamp reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22073189, 26610600; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC19 Nick Beauchamp reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DMXL2 Nick Beauchamp reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, 612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 DLAT Nick Beauchamp reviewed gene: DLAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DDHD2 Nick Beauchamp reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DDC Nick Beauchamp reviewed gene: DDC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DCTN1 Nick Beauchamp reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20437543, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DCAF17 Nick Beauchamp reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Woodhouse-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DARS2 Nick Beauchamp reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19592391; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DARS Nick Beauchamp reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DAB1 Nick Beauchamp reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 37, 615945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CYP27A1 Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CWF19L1 Nick Beauchamp reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CSTB Nick Beauchamp reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800, microcephaly and severe dyskinesia, 26843564; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CSF1R Nick Beauchamp reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 22197934, 23038421; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CP Nick Beauchamp reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: 7708681, 3574673; Phenotypes: Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 COX20 Nick Beauchamp reviewed gene: COX20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 COQ8A Nick Beauchamp reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24048965, 29915382; Phenotypes: Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 COG5 Nick Beauchamp reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iii, 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 COASY Nick Beauchamp reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: 28489334, 24360804; Phenotypes: COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CLP1 Nick Beauchamp reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 10 (#615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CLN6 Nick Beauchamp reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26115733, 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CLCN2 Nick Beauchamp reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23707145; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CIZ1 Nick Beauchamp reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 CHMP2B Nick Beauchamp reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16041373, 17956895; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CHMP1A Nick Beauchamp reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CHCHD2 Nick Beauchamp reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26705026, 25662902; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CHCHD10 Nick Beauchamp reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24934289, 25576308, 25113787, 27810918; Phenotypes: ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CCNF Nick Beauchamp reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontotemporal dementia / amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 CCDC88C Nick Beauchamp reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30398676, 25062847; Phenotypes: autosomal dominant spinocerebellar ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CASK Nick Beauchamp reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CAMTA1 Nick Beauchamp reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellarataxia, nonprogressive, with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 CACNB4 Nick Beauchamp reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 CACNA1G Nick Beauchamp reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 26456284, 26715324; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CACNA1A Nick Beauchamp reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: episodic ataxia type 2 (EA2),108500, familial hemiplegic migraine type 1, 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Dystonia, Spinocerebellar ataxia 6, Episodic ataxia, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 CA8 Nick Beauchamp reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 C9orf72 Nick Beauchamp reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23278385; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 BEAN1 Nick Beauchamp reviewed gene: BEAN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 31, 117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 BCAP31 Nick Beauchamp reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, dystonia and cerebellar hypomyelination, 300475; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AUH Nick Beauchamp reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20855850; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ATXN8 Nick Beauchamp reviewed gene: ATXN8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 8, 608768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ATXN7 Nick Beauchamp reviewed gene: ATXN7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia7,164500; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATXN3 Nick Beauchamp reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: familial parkinsonism, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ATXN2 Nick Beauchamp reviewed gene: ATXN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ATXN10 Nick Beauchamp reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia10, 603516; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATXN1 Nick Beauchamp reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia1, 164400; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATP8A2 Nick Beauchamp reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ATP7B Nick Beauchamp reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29213604; Phenotypes: Wilson disease 277900, Dystonia, Wilson Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ATP6AP2 Nick Beauchamp reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 ATP2B3 Nick Beauchamp reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, X-linked 1; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATP1A3 Nick Beauchamp reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15260953; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ATP1A2 Nick Beauchamp reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, alternating hemiplegia of childhood 104290, familial basilar migraine 602481, migraine, familial hemiplegic migraine type 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21060012, 16964263; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ATN1 Nick Beauchamp reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ATM Nick Beauchamp reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Ataxia-Telangiectasia, Ataxia telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ATCAY Nick Beauchamp reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, cerebellar, Cayman type, Cerebellar Ataxia, Cayman type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ARX Nick Beauchamp reviewed gene: ARX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ARSI Nick Beauchamp reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ARSA Nick Beauchamp reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy (#250100), Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ARL6IP1 Nick Beauchamp reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AR Nick Beauchamp reviewed gene: AR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 APTX Nick Beauchamp reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: 14506070; Phenotypes: Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 APP Nick Beauchamp reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: 2111584; Phenotypes: Clinical syndrome Alzheimer disease, Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP1S2 Nick Beauchamp reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 ANO3 Nick Beauchamp reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ANO10 Nick Beauchamp reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: 25182700; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ANG Nick Beauchamp reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501576, 17886298; Phenotypes: Amyotrophic lateral sclerosis 9, 611895, Amyotrophic Lateral Sclerosis, Dominant, familial amyotrophic lateral sclerosis (ALS9); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586298; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ALAS2 Nick Beauchamp reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: ; 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)
Adult onset neurodegenerative disorder v1.72 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ADCY5 Nick Beauchamp reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia, Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ACTB Nick Beauchamp reviewed gene: ACTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, juvenile-onset, 607371, Baraitser-Winter syndrome 1, 243310; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ABHD12 Nick Beauchamp reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 20797687; Phenotypes: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ABCB7 Nick Beauchamp reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 AARS Nick Beauchamp reviewed gene: AARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 AAAS Nick Beauchamp reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.70 TUBA4A Louise Daugherty Mode of inheritance for gene TUBA4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 for gene: TUBA4A
Publications for gene TUBA4A were changed from to 25374358; 28069311; 25893256
Adult onset neurodegenerative disorder v1.70 ARHGEF28 Louise Daugherty Mode of inheritance for gene ARHGEF28 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Amyotrophic lateral sclerosis for gene: ARHGEF28
Publications for gene ARHGEF28 were changed from to 23286752; 24712971; 28709720; 27154192
Adult onset neurodegenerative disorder v1.67 ZFYVE26 Louise Daugherty Source Yorkshire and North East GLH was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.67 YY1 Louise Daugherty Source Yorkshire and North East GLH was added to YY1.
Adult onset neurodegenerative disorder v1.67 XPR1 Louise Daugherty Source Yorkshire and North East GLH was added to XPR1.
Adult onset neurodegenerative disorder v1.67 WWOX Louise Daugherty Source Yorkshire and North East GLH was added to WWOX.
Adult onset neurodegenerative disorder v1.67 WFS1 Louise Daugherty Source Yorkshire and North East GLH was added to WFS1.
Adult onset neurodegenerative disorder v1.67 WDR81 Louise Daugherty Source Yorkshire and North East GLH was added to WDR81.
Adult onset neurodegenerative disorder v1.67 WDR73 Louise Daugherty Source Yorkshire and North East GLH was added to WDR73.
Adult onset neurodegenerative disorder v1.67 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Adult onset neurodegenerative disorder v1.67 WDR45 Louise Daugherty Source Yorkshire and North East GLH was added to WDR45.
Adult onset neurodegenerative disorder v1.67 WASHC5 Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5.
Adult onset neurodegenerative disorder v1.67 VRK1 Louise Daugherty Source Yorkshire and North East GLH was added to VRK1.
Adult onset neurodegenerative disorder v1.67 VPS53 Louise Daugherty Source Yorkshire and North East GLH was added to VPS53.
Adult onset neurodegenerative disorder v1.67 VPS35 Louise Daugherty Source Yorkshire and North East GLH was added to VPS35.
Adult onset neurodegenerative disorder v1.67 VPS13D Louise Daugherty Source Yorkshire and North East GLH was added to VPS13D.
Adult onset neurodegenerative disorder v1.67 VPS13A Louise Daugherty Source Yorkshire and North East GLH was added to VPS13A.
Adult onset neurodegenerative disorder v1.67 VLDLR Louise Daugherty Source Yorkshire and North East GLH was added to VLDLR.
Adult onset neurodegenerative disorder v1.67 VCP Louise Daugherty Source Yorkshire and North East GLH was added to VCP.
Adult onset neurodegenerative disorder v1.67 VAPB Louise Daugherty Source Yorkshire and North East GLH was added to VAPB.
Adult onset neurodegenerative disorder v1.67 VAMP1 Louise Daugherty Source Yorkshire and North East GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.67 VAC14 Louise Daugherty Source Yorkshire and North East GLH was added to VAC14.
Adult onset neurodegenerative disorder v1.67 UBQLN2 Louise Daugherty Source Yorkshire and North East GLH was added to UBQLN2.
Adult onset neurodegenerative disorder v1.67 TYROBP Louise Daugherty Source Yorkshire and North East GLH was added to TYROBP.
Adult onset neurodegenerative disorder v1.67 TWNK Louise Daugherty Source Yorkshire and North East GLH was added to TWNK.
Adult onset neurodegenerative disorder v1.67 TUBB4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB4A.
Adult onset neurodegenerative disorder v1.67 TTPA Louise Daugherty Source Yorkshire and North East GLH was added to TTPA.
Adult onset neurodegenerative disorder v1.67 TTC19 Louise Daugherty Source Yorkshire and North East GLH was added to TTC19.
Adult onset neurodegenerative disorder v1.67 TTBK2 Louise Daugherty Source Yorkshire and North East GLH was added to TTBK2.
Adult onset neurodegenerative disorder v1.67 TSEN54 Louise Daugherty Source Yorkshire and North East GLH was added to TSEN54.
Adult onset neurodegenerative disorder v1.67 TSEN2 Louise Daugherty Source Yorkshire and North East GLH was added to TSEN2.
Adult onset neurodegenerative disorder v1.67 TREM2 Louise Daugherty Source Yorkshire and North East GLH was added to TREM2.
Adult onset neurodegenerative disorder v1.67 TPP1 Louise Daugherty Source Yorkshire and North East GLH was added to TPP1.
Adult onset neurodegenerative disorder v1.67 TOR1A Louise Daugherty Source Yorkshire and North East GLH was added to TOR1A.
Adult onset neurodegenerative disorder v1.67 TMEM240 Louise Daugherty Source Yorkshire and North East GLH was added to TMEM240.
Adult onset neurodegenerative disorder v1.67 THAP1 Louise Daugherty Source Yorkshire and North East GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.67 TH Louise Daugherty Source Yorkshire and North East GLH was added to TH.
Adult onset neurodegenerative disorder v1.67 TGM6 Louise Daugherty Source Yorkshire and North East GLH was added to TGM6.
Adult onset neurodegenerative disorder v1.67 TBP Louise Daugherty Source Yorkshire and North East GLH was added to TBP.
Adult onset neurodegenerative disorder v1.67 TBK1 Louise Daugherty Source Yorkshire and North East GLH was added to TBK1.
Adult onset neurodegenerative disorder v1.67 TARDBP Louise Daugherty Source Yorkshire and North East GLH was added to TARDBP.
Adult onset neurodegenerative disorder v1.67 TAF1 Louise Daugherty Source Yorkshire and North East GLH was added to TAF1.
Adult onset neurodegenerative disorder v1.67 SYNJ1 Louise Daugherty Source Yorkshire and North East GLH was added to SYNJ1.
Adult onset neurodegenerative disorder v1.67 SYNE1 Louise Daugherty Source Yorkshire and North East GLH was added to SYNE1.
Adult onset neurodegenerative disorder v1.67 STUB1 Louise Daugherty Source Yorkshire and North East GLH was added to STUB1.
Adult onset neurodegenerative disorder v1.67 SRD5A3 Louise Daugherty Source Yorkshire and North East GLH was added to SRD5A3.
Adult onset neurodegenerative disorder v1.67 SQSTM1 Louise Daugherty Source Yorkshire and North East GLH was added to SQSTM1.
Adult onset neurodegenerative disorder v1.67 SPTBN2 Louise Daugherty Source Yorkshire and North East GLH was added to SPTBN2.
Adult onset neurodegenerative disorder v1.67 SPR Louise Daugherty Source Yorkshire and North East GLH was added to SPR.
Adult onset neurodegenerative disorder v1.67 SPG7 Louise Daugherty Source Yorkshire and North East GLH was added to SPG7.
Adult onset neurodegenerative disorder v1.67 SPG21 Louise Daugherty Source Yorkshire and North East GLH was added to SPG21.
Adult onset neurodegenerative disorder v1.67 SPG11 Louise Daugherty Source Yorkshire and North East GLH was added to SPG11.
Adult onset neurodegenerative disorder v1.67 SPAST Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.67 SPART Louise Daugherty Source Yorkshire and North East GLH was added to SPART.
Adult onset neurodegenerative disorder v1.67 SOD1 Louise Daugherty Source Yorkshire and North East GLH was added to SOD1.
Adult onset neurodegenerative disorder v1.67 SNX14 Louise Daugherty Source Yorkshire and North East GLH was added to SNX14.
Adult onset neurodegenerative disorder v1.67 SNCB Louise Daugherty Source Yorkshire and North East GLH was added to SNCB.
Adult onset neurodegenerative disorder v1.67 SNCA Louise Daugherty Source Yorkshire and North East GLH was added to SNCA.
Adult onset neurodegenerative disorder v1.67 SLC9A6 Louise Daugherty Source Yorkshire and North East GLH was added to SLC9A6.
Adult onset neurodegenerative disorder v1.67 SLC6A5 Louise Daugherty Source Yorkshire and North East GLH was added to SLC6A5.
Adult onset neurodegenerative disorder v1.67 SLC6A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC6A3.
Adult onset neurodegenerative disorder v1.67 SLC52A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC52A3.
Adult onset neurodegenerative disorder v1.67 SLC52A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC52A2.
Adult onset neurodegenerative disorder v1.67 SLC39A14 Louise Daugherty Source Yorkshire and North East GLH was added to SLC39A14.
Adult onset neurodegenerative disorder v1.67 SLC30A10 Louise Daugherty Source Yorkshire and North East GLH was added to SLC30A10.
Adult onset neurodegenerative disorder v1.67 SLC2A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.67 SLC25A46 Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46.
Adult onset neurodegenerative disorder v1.67 SLC20A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC20A2.
Adult onset neurodegenerative disorder v1.67 SLC1A4 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A4.
Adult onset neurodegenerative disorder v1.67 SLC1A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A3.
Adult onset neurodegenerative disorder v1.67 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Adult onset neurodegenerative disorder v1.67 SIL1 Louise Daugherty Source Yorkshire and North East GLH was added to SIL1.
Adult onset neurodegenerative disorder v1.67 SIGMAR1 Louise Daugherty Source Yorkshire and North East GLH was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.67 SGCE Louise Daugherty Source Yorkshire and North East GLH was added to SGCE.
Adult onset neurodegenerative disorder v1.67 SETX Louise Daugherty Source Yorkshire and North East GLH was added to SETX.
Adult onset neurodegenerative disorder v1.67 SERAC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERAC1.
Adult onset neurodegenerative disorder v1.67 SEPSECS Louise Daugherty Source Yorkshire and North East GLH was added to SEPSECS.
Adult onset neurodegenerative disorder v1.67 SCN8A Louise Daugherty Source Yorkshire and North East GLH was added to SCN8A.
Adult onset neurodegenerative disorder v1.67 SCN1A Louise Daugherty Source Yorkshire and North East GLH was added to SCN1A.
Adult onset neurodegenerative disorder v1.67 SAR1B Louise Daugherty Source Yorkshire and North East GLH was added to SAR1B.
Adult onset neurodegenerative disorder v1.67 SACS Louise Daugherty Source Yorkshire and North East GLH was added to SACS.
Adult onset neurodegenerative disorder v1.67 RTN2 Louise Daugherty Source Yorkshire and North East GLH was added to RTN2.
Adult onset neurodegenerative disorder v1.67 RNF216 Louise Daugherty Source Yorkshire and North East GLH was added to RNF216.
Adult onset neurodegenerative disorder v1.67 RNF170 Louise Daugherty Source Yorkshire and North East GLH was added to RNF170.
Adult onset neurodegenerative disorder v1.67 REEP2 Louise Daugherty Source Yorkshire and North East GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.67 REEP1 Louise Daugherty Source Yorkshire and North East GLH was added to REEP1.
Adult onset neurodegenerative disorder v1.67 RARS2 Louise Daugherty Source Yorkshire and North East GLH was added to RARS2.
Adult onset neurodegenerative disorder v1.67 RAB39B Louise Daugherty Source Yorkshire and North East GLH was added to RAB39B.
Adult onset neurodegenerative disorder v1.67 PSEN2 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN2.
Adult onset neurodegenerative disorder v1.67 PSEN1 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN1.
Adult onset neurodegenerative disorder v1.67 PRRT2 Louise Daugherty Source Yorkshire and North East GLH was added to PRRT2.
Adult onset neurodegenerative disorder v1.67 PRNP Louise Daugherty Source Yorkshire and North East GLH was added to PRNP.
Adult onset neurodegenerative disorder v1.67 PRKRA Louise Daugherty Source Yorkshire and North East GLH was added to PRKRA.
Adult onset neurodegenerative disorder v1.67 PRKN Louise Daugherty Source Yorkshire and North East GLH was added to PRKN.
Adult onset neurodegenerative disorder v1.67 PRKCG Louise Daugherty Source Yorkshire and North East GLH was added to PRKCG.
Adult onset neurodegenerative disorder v1.67 PPP2R2B Louise Daugherty Source Yorkshire and North East GLH was added to PPP2R2B.
Adult onset neurodegenerative disorder v1.67 POLR3A Louise Daugherty Source Yorkshire and North East GLH was added to POLR3A.
Adult onset neurodegenerative disorder v1.67 POLG Louise Daugherty Source Yorkshire and North East GLH was added to POLG.
Adult onset neurodegenerative disorder v1.67 PNPLA6 Louise Daugherty Source Yorkshire and North East GLH was added to PNPLA6.
Adult onset neurodegenerative disorder v1.67 PNKP Louise Daugherty Source Yorkshire and North East GLH was added to PNKP.
Adult onset neurodegenerative disorder v1.67 PNKD Louise Daugherty Source Yorkshire and North East GLH was added to PNKD.
Adult onset neurodegenerative disorder v1.67 PMPCA Louise Daugherty Source Yorkshire and North East GLH was added to PMPCA.
Adult onset neurodegenerative disorder v1.67 PLP1 Louise Daugherty Source Yorkshire and North East GLH was added to PLP1.
Adult onset neurodegenerative disorder v1.67 PLA2G6 Louise Daugherty Source Yorkshire and North East GLH was added to PLA2G6.
Adult onset neurodegenerative disorder v1.67 PINK1 Louise Daugherty Source Yorkshire and North East GLH was added to PINK1.
Adult onset neurodegenerative disorder v1.67 PFN1 Louise Daugherty Source Yorkshire and North East GLH was added to PFN1.
Adult onset neurodegenerative disorder v1.67 PEX16 Louise Daugherty Source Yorkshire and North East GLH was added to PEX16.
Adult onset neurodegenerative disorder v1.67 PDYN Louise Daugherty Source Yorkshire and North East GLH was added to PDYN.
Adult onset neurodegenerative disorder v1.67 PDGFRB Louise Daugherty Source Yorkshire and North East GLH was added to PDGFRB.
Adult onset neurodegenerative disorder v1.67 PDGFB Louise Daugherty Source Yorkshire and North East GLH was added to PDGFB.
Adult onset neurodegenerative disorder v1.67 PAX6 Louise Daugherty Source Yorkshire and North East GLH was added to PAX6.
Adult onset neurodegenerative disorder v1.67 PARK7 Louise Daugherty Source Yorkshire and North East GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.67 PANK2 Louise Daugherty Source Yorkshire and North East GLH was added to PANK2.
Adult onset neurodegenerative disorder v1.67 OPTN Louise Daugherty Source Yorkshire and North East GLH was added to OPTN.
Adult onset neurodegenerative disorder v1.67 OPHN1 Louise Daugherty Source Yorkshire and North East GLH was added to OPHN1.
Adult onset neurodegenerative disorder v1.67 OPA3 Louise Daugherty Source Yorkshire and North East GLH was added to OPA3.
Adult onset neurodegenerative disorder v1.67 NT5C2 Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2.
Adult onset neurodegenerative disorder v1.67 NR4A2 Louise Daugherty Source Yorkshire and North East GLH was added to NR4A2.
Adult onset neurodegenerative disorder v1.67 NPC2 Louise Daugherty Source Yorkshire and North East GLH was added to NPC2.
Adult onset neurodegenerative disorder v1.67 NPC1 Louise Daugherty Source Yorkshire and North East GLH was added to NPC1.
Adult onset neurodegenerative disorder v1.67 NOTCH3 Louise Daugherty Source Yorkshire and North East GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.67 NOP56 Louise Daugherty Source Yorkshire and North East GLH was added to NOP56.
Adult onset neurodegenerative disorder v1.67 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Adult onset neurodegenerative disorder v1.67 NKX2-1 Louise Daugherty Source Yorkshire and North East GLH was added to NKX2-1.
Adult onset neurodegenerative disorder v1.67 NIPA1 Louise Daugherty Source Yorkshire and North East GLH was added to NIPA1.
Adult onset neurodegenerative disorder v1.67 NHLRC1 Louise Daugherty Source Yorkshire and North East GLH was added to NHLRC1.
Adult onset neurodegenerative disorder v1.67 NEFH Louise Daugherty Source Yorkshire and North East GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.67 NDUFA12 Louise Daugherty Source Yorkshire and North East GLH was added to NDUFA12.
Adult onset neurodegenerative disorder v1.67 NAGLU Louise Daugherty Source Yorkshire and North East GLH was added to NAGLU.
Adult onset neurodegenerative disorder v1.67 MVK Louise Daugherty Source Yorkshire and North East GLH was added to MVK.
Adult onset neurodegenerative disorder v1.67 MTTP Louise Daugherty Source Yorkshire and North East GLH was added to MTTP.
Adult onset neurodegenerative disorder v1.67 MTPAP Louise Daugherty Source Yorkshire and North East GLH was added to MTPAP.
Adult onset neurodegenerative disorder v1.67 MT-ND6 Louise Daugherty Source Yorkshire and North East GLH was added to MT-ND6.
Adult onset neurodegenerative disorder v1.67 MT-ATP6 Louise Daugherty Source Yorkshire and North East GLH was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.67 MRE11 Louise Daugherty Source Yorkshire and North East GLH was added to MRE11.
Adult onset neurodegenerative disorder v1.67 MR1 Louise Daugherty Source Yorkshire and North East GLH was added to MR1.
Adult onset neurodegenerative disorder v1.67 MPV17 Louise Daugherty Source Yorkshire and North East GLH was added to MPV17.
Adult onset neurodegenerative disorder v1.67 MMADHC Louise Daugherty Source Yorkshire and North East GLH was added to MMADHC.
Adult onset neurodegenerative disorder v1.67 MMACHC Louise Daugherty Source Yorkshire and North East GLH was added to MMACHC.
Adult onset neurodegenerative disorder v1.67 MECR Louise Daugherty Source Yorkshire and North East GLH was added to MECR.
Adult onset neurodegenerative disorder v1.67 MCOLN1 Louise Daugherty Source Yorkshire and North East GLH was added to MCOLN1.
Adult onset neurodegenerative disorder v1.67 MAT1A Louise Daugherty Source Yorkshire and North East GLH was added to MAT1A.
Adult onset neurodegenerative disorder v1.67 MARS2 Louise Daugherty Source Yorkshire and North East GLH was added to MARS2.
Adult onset neurodegenerative disorder v1.67 MARS Louise Daugherty Source Yorkshire and North East GLH was added to MARS.
Adult onset neurodegenerative disorder v1.67 MAPT Louise Daugherty Source Yorkshire and North East GLH was added to MAPT.
Adult onset neurodegenerative disorder v1.67 MAG Louise Daugherty Source Yorkshire and North East GLH was added to MAG.
Adult onset neurodegenerative disorder v1.67 LYST Louise Daugherty Source Yorkshire and North East GLH was added to LYST.
Adult onset neurodegenerative disorder v1.67 LRRK2 Louise Daugherty Source Yorkshire and North East GLH was added to LRRK2.
Adult onset neurodegenerative disorder v1.67 L2HGDH Louise Daugherty Source Yorkshire and North East GLH was added to L2HGDH.
Adult onset neurodegenerative disorder v1.67 L1CAM Louise Daugherty Source Yorkshire and North East GLH was added to L1CAM.
Adult onset neurodegenerative disorder v1.67 KMT2B Louise Daugherty Source Yorkshire and North East GLH was added to KMT2B.
Adult onset neurodegenerative disorder v1.67 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Adult onset neurodegenerative disorder v1.67 KIF5A Louise Daugherty Source Yorkshire and North East GLH was added to KIF5A.
Adult onset neurodegenerative disorder v1.67 KIF1C Louise Daugherty Source Yorkshire and North East GLH was added to KIF1C.
Adult onset neurodegenerative disorder v1.67 KIF1A Louise Daugherty Source Yorkshire and North East GLH was added to KIF1A.
Adult onset neurodegenerative disorder v1.67 KIDINS220 Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220.
Adult onset neurodegenerative disorder v1.67 KIAA1161 Louise Daugherty Source Yorkshire and North East GLH was added to KIAA1161.
Adult onset neurodegenerative disorder v1.67 KDM5C Louise Daugherty Source Yorkshire and North East GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.67 KCNQ3 Louise Daugherty Source Yorkshire and North East GLH was added to KCNQ3.
Adult onset neurodegenerative disorder v1.67 KCNQ2 Louise Daugherty Source Yorkshire and North East GLH was added to KCNQ2.
Adult onset neurodegenerative disorder v1.67 KCNK18 Louise Daugherty Source Yorkshire and North East GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.67 KCNJ10 Louise Daugherty Source Yorkshire and North East GLH was added to KCNJ10.
Adult onset neurodegenerative disorder v1.67 KCND3 Louise Daugherty Source Yorkshire and North East GLH was added to KCND3.
Adult onset neurodegenerative disorder v1.67 KCNC3 Louise Daugherty Source Yorkshire and North East GLH was added to KCNC3.
Adult onset neurodegenerative disorder v1.67 KCNA1 Louise Daugherty Source Yorkshire and North East GLH was added to KCNA1.
Adult onset neurodegenerative disorder v1.67 JPH3 Louise Daugherty Source Yorkshire and North East GLH was added to JPH3.
Adult onset neurodegenerative disorder v1.67 ITPR1 Louise Daugherty Source Yorkshire and North East GLH was added to ITPR1.
Adult onset neurodegenerative disorder v1.67 ITM2B Louise Daugherty Source Yorkshire and North East GLH was added to ITM2B.
Adult onset neurodegenerative disorder v1.67 IPPK Louise Daugherty Source Yorkshire and North East GLH was added to IPPK.
Adult onset neurodegenerative disorder v1.67 IBA57 Louise Daugherty Source Yorkshire and North East GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.67 HTT Louise Daugherty Source Yorkshire and North East GLH was added to HTT.
Adult onset neurodegenerative disorder v1.67 HTRA2 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA2.
Adult onset neurodegenerative disorder v1.67 HTRA1 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA1.
Adult onset neurodegenerative disorder v1.67 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Adult onset neurodegenerative disorder v1.67 HPRT1 Louise Daugherty Source Yorkshire and North East GLH was added to HPRT1.
Adult onset neurodegenerative disorder v1.67 HPCA Louise Daugherty Source Yorkshire and North East GLH was added to HPCA.
Adult onset neurodegenerative disorder v1.67 HNRNPA1 Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.67 HFE Louise Daugherty Source Yorkshire and North East GLH was added to HFE.
Adult onset neurodegenerative disorder v1.67 HEXB Louise Daugherty Source Yorkshire and North East GLH was added to HEXB.
Adult onset neurodegenerative disorder v1.67 HEXA Louise Daugherty Source Yorkshire and North East GLH was added to HEXA.
Adult onset neurodegenerative disorder v1.67 HACE1 Louise Daugherty Source Yorkshire and North East GLH was added to HACE1.
Adult onset neurodegenerative disorder v1.67 GRN Louise Daugherty Source Yorkshire and North East GLH was added to GRN.
Adult onset neurodegenerative disorder v1.67 GRM1 Louise Daugherty Source Yorkshire and North East GLH was added to GRM1.
Adult onset neurodegenerative disorder v1.67 GRID2 Louise Daugherty Source Yorkshire and North East GLH was added to GRID2.
Adult onset neurodegenerative disorder v1.67 GPAA1 Louise Daugherty Source Yorkshire and North East GLH was added to GPAA1.
Adult onset neurodegenerative disorder v1.67 GOSR2 Louise Daugherty Source Yorkshire and North East GLH was added to GOSR2.
Adult onset neurodegenerative disorder v1.67 GNAO1 Louise Daugherty Source Yorkshire and North East GLH was added to GNAO1.
Adult onset neurodegenerative disorder v1.67 GNAL Louise Daugherty Source Yorkshire and North East GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.67 GLRB Louise Daugherty Source Yorkshire and North East GLH was added to GLRB.
Adult onset neurodegenerative disorder v1.67 GLRA1 Louise Daugherty Source Yorkshire and North East GLH was added to GLRA1.
Adult onset neurodegenerative disorder v1.67 GJC2 Louise Daugherty Source Yorkshire and North East GLH was added to GJC2.
Adult onset neurodegenerative disorder v1.67 GIGYF2 Louise Daugherty Source Yorkshire and North East GLH was added to GIGYF2.
Adult onset neurodegenerative disorder v1.67 GFAP Louise Daugherty Source Yorkshire and North East GLH was added to GFAP.
Adult onset neurodegenerative disorder v1.67 GCH1 Louise Daugherty Source Yorkshire and North East GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.67 GCDH Louise Daugherty Source Yorkshire and North East GLH was added to GCDH.
Adult onset neurodegenerative disorder v1.67 GBA2 Louise Daugherty Source Yorkshire and North East GLH was added to GBA2.
Adult onset neurodegenerative disorder v1.67 GBA Louise Daugherty Source Yorkshire and North East GLH was added to GBA.
Adult onset neurodegenerative disorder v1.67 GAMT Louise Daugherty Source Yorkshire and North East GLH was added to GAMT.
Adult onset neurodegenerative disorder v1.67 GAD1 Louise Daugherty Source Yorkshire and North East GLH was added to GAD1.
Adult onset neurodegenerative disorder v1.67 FXN Louise Daugherty Source Yorkshire and North East GLH was added to FXN.
Adult onset neurodegenerative disorder v1.67 FUS Louise Daugherty Source Yorkshire and North East GLH was added to FUS.
Adult onset neurodegenerative disorder v1.67 FTL Louise Daugherty Source Yorkshire and North East GLH was added to FTL.
Adult onset neurodegenerative disorder v1.67 FOXRED1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXRED1.
Adult onset neurodegenerative disorder v1.67 FOXG1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXG1.
Adult onset neurodegenerative disorder v1.67 FOLR1 Louise Daugherty Source Yorkshire and North East GLH was added to FOLR1.
Adult onset neurodegenerative disorder v1.67 FMR1 Louise Daugherty Source Yorkshire and North East GLH was added to FMR1.
Adult onset neurodegenerative disorder v1.67 FLVCR1 Louise Daugherty Source Yorkshire and North East GLH was added to FLVCR1.
Adult onset neurodegenerative disorder v1.67 FIG4 Louise Daugherty Source Yorkshire and North East GLH was added to FIG4.
Adult onset neurodegenerative disorder v1.67 FGF14 Louise Daugherty Source Yorkshire and North East GLH was added to FGF14.
Adult onset neurodegenerative disorder v1.67 FBXO7 Louise Daugherty Source Yorkshire and North East GLH was added to FBXO7.
Adult onset neurodegenerative disorder v1.67 FASTKD2 Louise Daugherty Source Yorkshire and North East GLH was added to FASTKD2.
Adult onset neurodegenerative disorder v1.67 FARS2 Louise Daugherty Source Yorkshire and North East GLH was added to FARS2.
Adult onset neurodegenerative disorder v1.67 FA2H Louise Daugherty Source Yorkshire and North East GLH was added to FA2H.
Adult onset neurodegenerative disorder v1.67 EXOSC3 Louise Daugherty Source Yorkshire and North East GLH was added to EXOSC3.
Adult onset neurodegenerative disorder v1.67 ERLIN2 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN2.
Adult onset neurodegenerative disorder v1.67 ERLIN1 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN1.
Adult onset neurodegenerative disorder v1.67 ERCC6 Louise Daugherty Source Yorkshire and North East GLH was added to ERCC6.
Adult onset neurodegenerative disorder v1.67 ERBB4 Louise Daugherty Source Yorkshire and North East GLH was added to ERBB4.
Adult onset neurodegenerative disorder v1.67 EPM2A Louise Daugherty Source Yorkshire and North East GLH was added to EPM2A.
Adult onset neurodegenerative disorder v1.67 ENTPD1 Louise Daugherty Source Yorkshire and North East GLH was added to ENTPD1.
Adult onset neurodegenerative disorder v1.67 ELOVL5 Louise Daugherty Source Yorkshire and North East GLH was added to ELOVL5.
Adult onset neurodegenerative disorder v1.67 ELOVL4 Louise Daugherty Source Yorkshire and North East GLH was added to ELOVL4.
Adult onset neurodegenerative disorder v1.67 EIF4G1 Louise Daugherty Source Yorkshire and North East GLH was added to EIF4G1.
Adult onset neurodegenerative disorder v1.67 EIF2B5 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B5.
Adult onset neurodegenerative disorder v1.67 EIF2B4 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B4.
Adult onset neurodegenerative disorder v1.67 EIF2B3 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B3.
Adult onset neurodegenerative disorder v1.67 EIF2B2 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B2.
Adult onset neurodegenerative disorder v1.67 EIF2B1 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B1.
Adult onset neurodegenerative disorder v1.67 EARS2 Louise Daugherty Source Yorkshire and North East GLH was added to EARS2.
Adult onset neurodegenerative disorder v1.67 DYNC1H1 Louise Daugherty Source Yorkshire and North East GLH was added to DYNC1H1.
Adult onset neurodegenerative disorder v1.67 DSTYK Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK.
Adult onset neurodegenerative disorder v1.67 DRD5 Louise Daugherty Source Yorkshire and North East GLH was added to DRD5.
Adult onset neurodegenerative disorder v1.67 DRD2 Louise Daugherty Source Yorkshire and North East GLH was added to DRD2.
Adult onset neurodegenerative disorder v1.67 DNMT1 Louise Daugherty Source Yorkshire and North East GLH was added to DNMT1.
Adult onset neurodegenerative disorder v1.67 DNAJC6 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC6.
Adult onset neurodegenerative disorder v1.67 DNAJC5 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC5.
Adult onset neurodegenerative disorder v1.67 DNAJC19 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC19.
Adult onset neurodegenerative disorder v1.67 DMXL2 Louise Daugherty Source Yorkshire and North East GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.67 DLAT Louise Daugherty Source Yorkshire and North East GLH was added to DLAT.
Adult onset neurodegenerative disorder v1.67 DDHD2 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD2.
Adult onset neurodegenerative disorder v1.67 DDHD1 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD1.
Adult onset neurodegenerative disorder v1.67 DDC Louise Daugherty Source Yorkshire and North East GLH was added to DDC.
Adult onset neurodegenerative disorder v1.67 DCTN1 Louise Daugherty Source Yorkshire and North East GLH was added to DCTN1.
Adult onset neurodegenerative disorder v1.67 DCAF17 Louise Daugherty Source Yorkshire and North East GLH was added to DCAF17.
Adult onset neurodegenerative disorder v1.67 DARS2 Louise Daugherty Source Yorkshire and North East GLH was added to DARS2.
Adult onset neurodegenerative disorder v1.67 DARS Louise Daugherty Source Yorkshire and North East GLH was added to DARS.
Adult onset neurodegenerative disorder v1.67 DAB1 Louise Daugherty Source Yorkshire and North East GLH was added to DAB1.
Adult onset neurodegenerative disorder v1.67 CYP7B1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1.
Adult onset neurodegenerative disorder v1.67 CYP2U1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1.
Adult onset neurodegenerative disorder v1.67 CYP27A1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP27A1.
Adult onset neurodegenerative disorder v1.67 CWF19L1 Louise Daugherty Source Yorkshire and North East GLH was added to CWF19L1.
Adult onset neurodegenerative disorder v1.67 CSTB Louise Daugherty Source Yorkshire and North East GLH was added to CSTB.
Adult onset neurodegenerative disorder v1.67 CSF1R Louise Daugherty Source Yorkshire and North East GLH was added to CSF1R.
Adult onset neurodegenerative disorder v1.67 CP Louise Daugherty Source Yorkshire and North East GLH was added to CP.
Adult onset neurodegenerative disorder v1.67 COX20 Louise Daugherty Source Yorkshire and North East GLH was added to COX20.
Adult onset neurodegenerative disorder v1.67 COQ8A Louise Daugherty Source Yorkshire and North East GLH was added to COQ8A.
Adult onset neurodegenerative disorder v1.67 COG5 Louise Daugherty Source Yorkshire and North East GLH was added to COG5.
Adult onset neurodegenerative disorder v1.67 COASY Louise Daugherty Source Yorkshire and North East GLH was added to COASY.
Adult onset neurodegenerative disorder v1.67 CLP1 Louise Daugherty Source Yorkshire and North East GLH was added to CLP1.
Adult onset neurodegenerative disorder v1.67 CLN6 Louise Daugherty Source Yorkshire and North East GLH was added to CLN6.
Adult onset neurodegenerative disorder v1.67 CLCN2 Louise Daugherty Source Yorkshire and North East GLH was added to CLCN2.
Adult onset neurodegenerative disorder v1.67 CIZ1 Louise Daugherty Source Yorkshire and North East GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.67 CHMP2B Louise Daugherty Source Yorkshire and North East GLH was added to CHMP2B.
Adult onset neurodegenerative disorder v1.67 CHMP1A Louise Daugherty Source Yorkshire and North East GLH was added to CHMP1A.
Adult onset neurodegenerative disorder v1.67 CHCHD2 Louise Daugherty Source Yorkshire and North East GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.67 CHCHD10 Louise Daugherty Source Yorkshire and North East GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.67 CDK16 Louise Daugherty Source Yorkshire and North East GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.67 CCT5 Louise Daugherty Source Yorkshire and North East GLH was added to CCT5.
Adult onset neurodegenerative disorder v1.67 CCNF Louise Daugherty Source Yorkshire and North East GLH was added to CCNF.
Adult onset neurodegenerative disorder v1.67 CCDC88C Louise Daugherty Source Yorkshire and North East GLH was added to CCDC88C.
Adult onset neurodegenerative disorder v1.67 CASK Louise Daugherty Source Yorkshire and North East GLH was added to CASK.
Adult onset neurodegenerative disorder v1.67 CAPN1 Louise Daugherty Source Yorkshire and North East GLH was added to CAPN1.
Adult onset neurodegenerative disorder v1.67 CAMTA1 Louise Daugherty Source Yorkshire and North East GLH was added to CAMTA1.
Adult onset neurodegenerative disorder v1.67 CACNB4 Louise Daugherty Source Yorkshire and North East GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.67 CACNA1G Louise Daugherty Source Yorkshire and North East GLH was added to CACNA1G.
Adult onset neurodegenerative disorder v1.67 CACNA1A Louise Daugherty Source Yorkshire and North East GLH was added to CACNA1A.
Adult onset neurodegenerative disorder v1.67 CA8 Louise Daugherty Source Yorkshire and North East GLH was added to CA8.
Adult onset neurodegenerative disorder v1.67 C9orf72 Louise Daugherty Source Yorkshire and North East GLH was added to C9orf72.
Adult onset neurodegenerative disorder v1.67 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.67 C12orf65 Louise Daugherty Source Yorkshire and North East GLH was added to C12orf65.
Adult onset neurodegenerative disorder v1.67 BSCL2 Louise Daugherty Source Yorkshire and North East GLH was added to BSCL2.
Adult onset neurodegenerative disorder v1.67 BEAN1 Louise Daugherty Source Yorkshire and North East GLH was added to BEAN1.
Adult onset neurodegenerative disorder v1.67 BCAP31 Louise Daugherty Source Yorkshire and North East GLH was added to BCAP31.
Adult onset neurodegenerative disorder v1.67 B4GALNT1 Louise Daugherty Source Yorkshire and North East GLH was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.67 AUH Louise Daugherty Source Yorkshire and North East GLH was added to AUH.
Adult onset neurodegenerative disorder v1.67 ATXN8 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN8.
Adult onset neurodegenerative disorder v1.67 ATXN7 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN7.
Adult onset neurodegenerative disorder v1.67 ATXN3 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN3.
Adult onset neurodegenerative disorder v1.67 ATXN2 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN2.
Adult onset neurodegenerative disorder v1.67 ATXN10 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN10.
Adult onset neurodegenerative disorder v1.67 ATXN1 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN1.
Adult onset neurodegenerative disorder v1.67 ATP8A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP8A2.
Adult onset neurodegenerative disorder v1.67 ATP7B Louise Daugherty Source Yorkshire and North East GLH was added to ATP7B.
Adult onset neurodegenerative disorder v1.67 ATP6AP2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP6AP2.
Adult onset neurodegenerative disorder v1.67 ATP2B3 Louise Daugherty Source Yorkshire and North East GLH was added to ATP2B3.
Adult onset neurodegenerative disorder v1.67 ATP1A3 Louise Daugherty Source Yorkshire and North East GLH was added to ATP1A3.
Adult onset neurodegenerative disorder v1.67 ATP1A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP1A2.
Adult onset neurodegenerative disorder v1.67 ATP13A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2.
Adult onset neurodegenerative disorder v1.67 ATN1 Louise Daugherty Source Yorkshire and North East GLH was added to ATN1.
Adult onset neurodegenerative disorder v1.67 ATM Louise Daugherty Source Yorkshire and North East GLH was added to ATM.
Adult onset neurodegenerative disorder v1.67 ATL1 Louise Daugherty Source Yorkshire and North East GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.67 ATCAY Louise Daugherty Source Yorkshire and North East GLH was added to ATCAY.
Adult onset neurodegenerative disorder v1.67 ARX Louise Daugherty Source Yorkshire and North East GLH was added to ARX.
Adult onset neurodegenerative disorder v1.67 ARSI Louise Daugherty Source Yorkshire and North East GLH was added to ARSI.
Adult onset neurodegenerative disorder v1.67 ARSA Louise Daugherty Source Yorkshire and North East GLH was added to ARSA.
Adult onset neurodegenerative disorder v1.67 ARL6IP1 Louise Daugherty Source Yorkshire and North East GLH was added to ARL6IP1.
Adult onset neurodegenerative disorder v1.67 ARG1 Louise Daugherty Source Yorkshire and North East GLH was added to ARG1.
Adult onset neurodegenerative disorder v1.67 AR Louise Daugherty Source Yorkshire and North East GLH was added to AR.
Adult onset neurodegenerative disorder v1.67 APTX Louise Daugherty Source Yorkshire and North East GLH was added to APTX.
Adult onset neurodegenerative disorder v1.67 APP Louise Daugherty Source Yorkshire and North East GLH was added to APP.
Adult onset neurodegenerative disorder v1.67 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Adult onset neurodegenerative disorder v1.67 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Adult onset neurodegenerative disorder v1.67 AP4M1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4M1.
Adult onset neurodegenerative disorder v1.67 AP4E1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4E1.
Adult onset neurodegenerative disorder v1.67 AP4B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4B1.
Adult onset neurodegenerative disorder v1.67 AP1S2 Louise Daugherty Source Yorkshire and North East GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.67 ANO3 Louise Daugherty Source Yorkshire and North East GLH was added to ANO3.
Adult onset neurodegenerative disorder v1.67 ANO10 Louise Daugherty Source Yorkshire and North East GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.67 ANG Louise Daugherty Source Yorkshire and North East GLH was added to ANG.
Adult onset neurodegenerative disorder v1.67 AMPD2 Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2.
Adult onset neurodegenerative disorder v1.67 ALS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALS2.
Adult onset neurodegenerative disorder v1.67 ALDH18A1 Louise Daugherty Source Yorkshire and North East GLH was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.67 ALAS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALAS2.
Adult onset neurodegenerative disorder v1.67 AIMP1 Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1.
Adult onset neurodegenerative disorder v1.67 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.67 ADCY5 Louise Daugherty Source Yorkshire and North East GLH was added to ADCY5.
Adult onset neurodegenerative disorder v1.67 ADAR Louise Daugherty Source Yorkshire and North East GLH was added to ADAR.
Adult onset neurodegenerative disorder v1.67 ACTB Louise Daugherty Source Yorkshire and North East GLH was added to ACTB.
Adult onset neurodegenerative disorder v1.67 ABHD12 Louise Daugherty Source Yorkshire and North East GLH was added to ABHD12.
Adult onset neurodegenerative disorder v1.67 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Adult onset neurodegenerative disorder v1.67 ABCB7 Louise Daugherty Source Yorkshire and North East GLH was added to ABCB7.
Adult onset neurodegenerative disorder v1.67 AARS Louise Daugherty Source Yorkshire and North East GLH was added to AARS.
Adult onset neurodegenerative disorder v1.67 AAAS Louise Daugherty Source Yorkshire and North East GLH was added to AAAS.
Adult onset neurodegenerative disorder v1.65 VPS13C Louise Daugherty Source Yorkshire and North East GLH was added to VPS13C.
Adult onset neurodegenerative disorder v1.65 DNAJC13 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC13.
Adult onset neurodegenerative disorder v1.65 COQ2 Louise Daugherty Source Yorkshire and North East GLH was added to COQ2.
Adult onset neurodegenerative disorder v1.65 TUBA4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBA4A.
Adult onset neurodegenerative disorder v1.65 TAF15 Louise Daugherty Source Yorkshire and North East GLH was added to TAF15.
Adult onset neurodegenerative disorder v1.65 PRPH Louise Daugherty Source Yorkshire and North East GLH was added to PRPH.
Adult onset neurodegenerative disorder v1.65 NEK1 Louise Daugherty Source Yorkshire and North East GLH was added to NEK1.
Adult onset neurodegenerative disorder v1.65 MATR3 Louise Daugherty Source Yorkshire and North East GLH was added to MATR3.
Adult onset neurodegenerative disorder v1.65 HNRNPA2B1 Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPA2B1.
Adult onset neurodegenerative disorder v1.65 EWSR1 Louise Daugherty Source Yorkshire and North East GLH was added to EWSR1.
Adult onset neurodegenerative disorder v1.65 DAO Louise Daugherty Source Yorkshire and North East GLH was added to DAO.
Adult onset neurodegenerative disorder v1.65 ARHGEF28 Louise Daugherty Source Yorkshire and North East GLH was added to ARHGEF28.
Adult onset neurodegenerative disorder v1.65 ANXA11 Louise Daugherty Source Yorkshire and North East GLH was added to ANXA11.
Adult onset neurodegenerative disorder v1.65 SS18L1 Louise Daugherty Source Yorkshire and North East GLH was added to SS18L1.
Adult onset neurodegenerative disorder v1.62 CTSF Louise Daugherty Added comment: Comment on list classification: New gene added from curation of Undiagnosed metabolic disorders panel and recommended by Genomics England clinical team to add to the Neurodegenerative disorders - adult onset panel. This is reported with onset in adulthood (youngest 20 yrs, oldest 35 yrs) with neurological features and cognitive decline.
Adult onset neurodegenerative disorder v1.61 CTSF Sarah Leigh changed review comment from: Associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature; to: Associated with phenotype in OMIM but not in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.60 CTSF Sarah Leigh changed review comment from: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature; to: Associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.60 CTSF Sarah Leigh changed review comment from: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, toghether with supportive functional studies.
Sources: Literature; to: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.60 CTSF Sarah Leigh gene: CTSF was added
gene: CTSF was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSF were set to 23297359: 25274848
Phenotypes for gene: CTSF were set to Type B Kufs disease
Review for gene: CTSF was set to GREEN
Added comment: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, toghether with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.59 ISCA-37404-Loss Louise Daugherty changed review comment from: Red rating for CNV region submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.; to: Red rating for CNV region submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 C9orf72_GGGGCC Louise Daugherty changed review comment from: 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.; to: Green rating for STR submitted on behalf of James Polke, 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.
Adult onset neurodegenerative disorder v1.59 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: Green rating inferred from review comment on the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN3_CAG Louise Daugherty changed review comment from: 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.; to: Green rating for STR submitted on behalf of James Polke, 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.
Adult onset neurodegenerative disorder v1.59 ATXN2_CAG Louise Daugherty changed review comment from: 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.; to: Green rating for STR submitted on behalf of James Polke, 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.
Adult onset neurodegenerative disorder v1.59 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN1_CAG Louise Daugherty changed review comment from: 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. ; to: Green rating for STR submitted on behalf of James Polke, 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.
Adult onset neurodegenerative disorder v1.59 ATXN10_ATTCT Louise Daugherty commented on STR: ATXN10_ATTCT: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN10_ATTCT Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 ATN1_CAG Louise Daugherty changed review comment from: 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. ; to: Green rating for STR submitted on behalf of James Polke, 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.
Adult onset neurodegenerative disorder v1.59 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: Green rating inferred from review comment on the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.58 C9orf72_GGGGCC Louise Daugherty Source South West GLH was added to STR: C9orf72_GGGGCC.
Adult onset neurodegenerative disorder v1.58 ATXN7_CAG Louise Daugherty Source South West GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN3_CAG Louise Daugherty Source South West GLH was added to STR: ATXN3_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN2_CAG Louise Daugherty Source South West GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN1_CAG Louise Daugherty Source South West GLH was added to STR: ATXN1_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN10_ATTCT Louise Daugherty Source South West GLH was added to STR: ATXN10_ATTCT.
Adult onset neurodegenerative disorder v1.58 ATN1_CAG Louise Daugherty Source South West GLH was added to STR: ATN1_CAG.
Adult onset neurodegenerative disorder v1.57 PPP2R2B_CAG Louise Daugherty Source London North GLH was added to STR: PPP2R2B_CAG.
Adult onset neurodegenerative disorder v1.57 NOP56_GGCCTG Louise Daugherty Source London North GLH was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.57 JPH3_CTG Louise Daugherty Source London North GLH was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v1.57 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Adult onset neurodegenerative disorder v1.57 C9orf72_GGGGCC Louise Daugherty Source London North GLH was added to STR: C9orf72_GGGGCC.
Adult onset neurodegenerative disorder v1.57 ATXN7_CAG Louise Daugherty Source London North GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN1_CAG Louise Daugherty Source London North GLH was added to STR: ATXN1_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN10_ATTCT Louise Daugherty Source London North GLH was added to STR: ATXN10_ATTCT.
Adult onset neurodegenerative disorder v1.57 ATN1_CAG Louise Daugherty Source London North GLH was added to STR: ATN1_CAG.
Publications for STR: ATN1_CAG were changed from 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 to 20301664; 8136826; 8136840; 7614090
Adult onset neurodegenerative disorder v1.57 AR_CAG Louise Daugherty Source London North GLH was added to STR: AR_CAG.
Adult onset neurodegenerative disorder v1.49 ATXN7 Louise Daugherty changed review comment from: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Neurodegenerative disorders - adult onset panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, as there are no SNVsfor this gene being associated to the disorder, this gene is rated RED.; to: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Hereditary ataxia panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, but this needs to be checked during the Neurology test Group call July 2019
Adult onset neurodegenerative disorder v1.49 ATXN7 Louise Daugherty commented on gene: ATXN7: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Neurodegenerative disorders - adult onset panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, as there are no SNVsfor this gene being associated to the disorder, this gene is rated RED.
Adult onset neurodegenerative disorder v1.13 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_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 v1.13 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
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 v1.13 C9orf72_GGGGCC Louise Daugherty edited their review of STR: C9orf72_GGGGCC: 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 v1.13 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_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 v1.13 ATXN2_CAG Louise Daugherty edited their review of STR: ATXN2_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 v1.13 ATXN10_ATTCT Louise Daugherty commented on STR: ATXN10_ATTCT: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 ATN1_CAG Louise Daugherty edited their review of STR: ATN1_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and 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 v1.13 AR_CAG Louise Daugherty edited their review of STR: AR_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and 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 v1.12 ISCA-37478-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37478-Loss.
Added phenotypes 105830; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37478-Loss
Adult onset neurodegenerative disorder v1.12 ISCA-37478-Gain Louise Daugherty Source London North GLH was added to Region: ISCA-37478-Gain.
Publications for Region: ISCA-37478-Gain were changed from 16840569; 9106540; 18374305 to 18374305; 9106540; 16840569
Adult onset neurodegenerative disorder v1.12 ISCA-37468-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37468-Loss.
Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss
Publications for Region: ISCA-37468-Loss were changed from 23414621; 22365943; 20485326 to 22365943; 20485326; 23414621
Adult onset neurodegenerative disorder v1.12 ISCA-37404-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37404-Loss.
Added phenotypes 105831; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37404-Loss
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Loss Louise Daugherty reviewed Region: ISCA-37478-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Gain Louise Daugherty edited their review of Region: ISCA-37478-Gain: Changed rating: RED
Adult onset neurodegenerative disorder v1.11 ISCA-37468-Loss Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ISCA-37404-Loss Louise Daugherty reviewed Region: ISCA-37404-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 YY1 Louise Daugherty reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WWOX Louise Daugherty reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WFS1 Louise Daugherty reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR81 Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VRK1 Louise Daugherty reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS13D Louise Daugherty reviewed gene: VPS13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VLDLR Louise Daugherty reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VAMP1 Louise Daugherty commented on gene: VAMP1: 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.
Adult onset neurodegenerative disorder v1.11 VAC14 Louise Daugherty reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TWNK Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTPA Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTBK2 Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TSEN54 Louise Daugherty reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TSEN2 Louise Daugherty reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TPP1 Louise Daugherty reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TIA1 Louise Daugherty reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TOR1A Louise Daugherty reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 THAP1 Louise Daugherty reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TH Louise Daugherty reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TGM6 Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SYNE1 Louise Daugherty reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 STUB1 Louise Daugherty reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SRD5A3 Louise Daugherty reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPTBN2 Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPR Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SNX14 Louise Daugherty reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC9A6 Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC6A5 Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC52A3 Louise Daugherty reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC52A2 Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC39A14 Louise Daugherty reviewed gene: SLC39A14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC1A4 Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SEPSECS Louise Daugherty reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SCN8A Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SCN1A Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SAR1B Louise Daugherty reviewed gene: SAR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RNF170 Louise Daugherty reviewed gene: RNF170: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 REEP2 Louise Daugherty commented on gene: REEP2: 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.
Adult onset neurodegenerative disorder v1.11 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RARS2 Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RAB39B Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRRT2 Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKCG Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNKD Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PMPCA Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PEX16 Louise Daugherty reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDYN Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PAX6 Louise Daugherty reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPHN1 Louise Daugherty reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NEFH Louise Daugherty commented on gene: NEFH: 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.
Adult onset neurodegenerative disorder v1.11 MVK Louise Daugherty commented on gene: MVK: 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.
Adult onset neurodegenerative disorder v1.11 MTTP Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MRE11 Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MECR Louise Daugherty reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MAG Louise Daugherty commented on gene: MAG: 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.
Adult onset neurodegenerative disorder v1.11 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KMT2B Louise Daugherty reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KDM5C Louise Daugherty commented on gene: KDM5C: 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.
Adult onset neurodegenerative disorder v1.11 KCNQ3 Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNQ2 Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNK18 Louise Daugherty commented on gene: KCNK18: 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.
Adult onset neurodegenerative disorder v1.11 KCNJ10 Louise Daugherty reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ITPR1 Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 IBA57 Louise Daugherty commented on gene: IBA57: 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.
Adult onset neurodegenerative disorder v1.11 HSPD1 Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HPCA Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRM1 Louise Daugherty reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRID2 Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GPAA1 Louise Daugherty reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GNAO1 Louise Daugherty reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GNAL Louise Daugherty commented on gene: GNAL: 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.
Adult onset neurodegenerative disorder v1.11 GLRB Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GLRA1 Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GCH1 Louise Daugherty commented on gene: GCH1: 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.
Adult onset neurodegenerative disorder v1.11 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FOLR1 Louise Daugherty reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FLVCR1 Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FGF14 Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EXOSC3 Louise Daugherty reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC19 Louise Daugherty reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DMXL2 Louise Daugherty commented on gene: DMXL2: 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.
Adult onset neurodegenerative disorder v1.11 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DCAF17 Louise Daugherty reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DARS Louise Daugherty commented on gene: DARS: 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.
Adult onset neurodegenerative disorder v1.11 CWF19L1 Louise Daugherty reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COX20 Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COG5 Louise Daugherty commented on gene: COG5: 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.
Adult onset neurodegenerative disorder v1.11 CIZ1 Louise Daugherty commented on gene: CIZ1: 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.
Adult onset neurodegenerative disorder v1.11 CHMP1A Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CDK16 Louise Daugherty commented on gene: CDK16: 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.
Adult onset neurodegenerative disorder v1.11 CASK Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CAMTA1 Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CA8 Louise Daugherty reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATCAY Louise Daugherty reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANO3 Louise Daugherty reviewed gene: ANO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANO10 Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AIMP1 Louise Daugherty edited their review of gene: AIMP1: Added 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.; Changed rating: AMBER
Adult onset neurodegenerative disorder v1.11 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABHD12 Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AAAS Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHCHD10 Louise Daugherty commented on gene: CHCHD10: 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.
Adult onset neurodegenerative disorder v1.11 XPR1 Louise Daugherty reviewed gene: XPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR45 Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS35 Louise Daugherty reviewed gene: VPS35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS13A Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VCP Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VAPB Louise Daugherty reviewed gene: VAPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 UBQLN2 Louise Daugherty reviewed gene: UBQLN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TYROBP Louise Daugherty reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTC19 Louise Daugherty reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TREM2 Louise Daugherty reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TMEM240 Louise Daugherty reviewed gene: TMEM240: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TBK1 Louise Daugherty reviewed gene: TBK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TARDBP Louise Daugherty reviewed gene: TARDBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TAF1 Louise Daugherty reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SYNJ1 Louise Daugherty reviewed gene: SYNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SQSTM1 Louise Daugherty reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SOD1 Louise Daugherty reviewed gene: SOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SNCA Louise Daugherty reviewed gene: SNCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC6A3 Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC30A10 Louise Daugherty reviewed gene: SLC30A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC20A2 Louise Daugherty reviewed gene: SLC20A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SIGMAR1 Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SGCE Louise Daugherty reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SETX Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PSEN2 Louise Daugherty reviewed gene: PSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKRA Louise Daugherty reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKN Louise Daugherty reviewed gene: PRKN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PLA2G6 Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PINK1 Louise Daugherty reviewed gene: PINK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PFN1 Louise Daugherty reviewed gene: PFN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDGFRB Louise Daugherty reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDGFB Louise Daugherty reviewed gene: PDGFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PARK7 Louise Daugherty reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PANK2 Louise Daugherty reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPTN Louise Daugherty reviewed gene: OPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NPC2 Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NPC1 Louise Daugherty reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NHLRC1 Louise Daugherty reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIAA1161 Louise Daugherty reviewed gene: KIAA1161: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MAPT Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 LRRK2 Louise Daugherty reviewed gene: LRRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCND3 Louise Daugherty reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNC3 Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ITM2B Louise Daugherty reviewed gene: ITM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HTRA2 Louise Daugherty reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HTRA1 Louise Daugherty reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HNRNPA1 Louise Daugherty reviewed gene: HNRNPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HEXB Louise Daugherty reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FUS Louise Daugherty reviewed gene: FUS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FIG4 Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FBXO7 Louise Daugherty reviewed gene: FBXO7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EPM2A Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ELOVL4 Louise Daugherty reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B5 Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B4 Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B3 Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B2 Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B1 Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNMT1 Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC6 Louise Daugherty reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC5 Louise Daugherty reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DARS2 Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CSF1R Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COQ8A Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COASY Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CLN6 Louise Daugherty reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CLCN2 Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHMP2B Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHCHD2 Louise Daugherty commented on gene: CHCHD2: 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.
Adult onset neurodegenerative disorder v1.11 CCNF Louise Daugherty reviewed gene: CCNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNA1G Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATXN7 Louise Daugherty commented on gene: ATXN7: 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.
Adult onset neurodegenerative disorder v1.11 ATP1A3 Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 APP Louise Daugherty reviewed gene: APP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANG Louise Daugherty reviewed gene: ANG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ZFYVE26 James Polke reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 YY1 James Polke reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WWOX James Polke reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WFS1 James Polke reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR81 James Polke reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR73 James Polke reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR45B James Polke reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WASHC5 James Polke reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VRK1 James Polke reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VPS13D James Polke reviewed gene: VPS13D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VLDLR James Polke reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VAMP1 James Polke reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VAC14 James Polke reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TWNK James Polke reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TTPA James Polke reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TTBK2 James Polke reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TSEN54 James Polke reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TSEN2 James Polke reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TPP1 James Polke reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TIA1 James Polke reviewed gene: TIA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TOR1A James Polke reviewed gene: TOR1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 THAP1 James Polke reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TH James Polke reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TGM6 James Polke reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SYNE1 James Polke reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 STUB1 James Polke reviewed gene: STUB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SRD5A3 James Polke reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPTBN2 James Polke reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPR James Polke reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG7 James Polke reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPART James Polke reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SNX14 James Polke reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC9A6 James Polke reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC52A3 James Polke reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC52A2 James Polke reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC39A14 James Polke reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC25A46 James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC1A4 James Polke reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC16A2 James Polke reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SIL1 James Polke reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SERAC1 James Polke reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SEPSECS James Polke reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SCN1A James Polke reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SAR1B James Polke reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SACS James Polke reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RTN2 James Polke reviewed gene: RTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RNF170 James Polke reviewed gene: RNF170: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 REEP2 James Polke reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 REEP1 James Polke reviewed gene: REEP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RARS2 James Polke reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RAB39B James Polke reviewed gene: RAB39B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRRT2 James Polke reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRKCG James Polke reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 POLR3A James Polke reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 POLG James Polke reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNKP James Polke reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNKD James Polke reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PMPCA James Polke reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PLP1 James Polke reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PEX16 James Polke reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDYN James Polke reviewed gene: PDYN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PAX6 James Polke reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPHN1 James Polke reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPA3 James Polke reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NIPA1 James Polke reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NEFH James Polke reviewed gene: NEFH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MVK James Polke reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MTTP James Polke reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MRE11 James Polke reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MMACHC James Polke reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MECR James Polke reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MARS2 James Polke reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MAG James Polke reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 L1CAM James Polke reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KMT2B James Polke reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIF1C James Polke reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIF1A James Polke reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIDINS220 James Polke reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KDM5C James Polke reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNJ10 James Polke reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNA1 James Polke reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ITPR1 James Polke reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 IBA57 James Polke reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HSPD1 James Polke reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HPCA James Polke reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HACE1 James Polke reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRM1 James Polke reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRID2 James Polke reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GPAA1 James Polke reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GOSR2 James Polke reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GNAO1 James Polke reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GNAL James Polke reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GLRB James Polke reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GLRA1 James Polke reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GJC2 James Polke reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GCH1 James Polke reviewed gene: GCH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FXN James Polke reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FOLR1 James Polke reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FLVCR1 James Polke reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FGF14 James Polke reviewed gene: FGF14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FARS2 James Polke reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FA2H James Polke reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EXOSC3 James Polke reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ERLIN2 James Polke reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNAJC19 James Polke reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DMXL2 James Polke reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DDHD2 James Polke reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DDHD1 James Polke reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DCAF17 James Polke reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DARS James Polke reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CWF19L1 James Polke reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COX20 James Polke reviewed gene: COX20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COG5 James Polke reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CIZ1 James Polke reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHMP1A James Polke reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CDK16 James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CASK James Polke reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CAMTA1 James Polke reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNB4 James Polke reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNA1A James Polke reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CA8 James Polke reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 C12orf65 James Polke reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 BSCL2 James Polke reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 B4GALNT1 James Polke reviewed gene: B4GALNT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATP7B James Polke reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATM James Polke reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATL1 James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATCAY James Polke reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ARG1 James Polke reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 APTX James Polke reviewed gene: APTX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4S1 James Polke reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4M1 James Polke reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4E1 James Polke reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4B1 James Polke reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP1S2 James Polke reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ANO3 James Polke reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ANO10 James Polke reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AMPD2 James Polke reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ALDH18A1 James Polke reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AIMP1 James Polke reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ADCY5 James Polke reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ADAR James Polke reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABHD12 James Polke reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABCB7 James Polke reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AAAS James Polke reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHCHD10 James Polke reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: 30014597; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 XPR1 James Polke reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR45 James Polke reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VPS35 James Polke reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 VPS13A James Polke reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VCP James Polke reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 VAPB James Polke reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 UBQLN2 James Polke reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TYROBP James Polke reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TTC19 James Polke reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TREM2 James Polke reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TMEM240 James Polke reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TBK1 James Polke reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TARDBP James Polke reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TAF1 James Polke reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SYNJ1 James Polke reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SQSTM1 James Polke reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG21 James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPAST James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SOD1 James Polke reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SNCA James Polke reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SLC6A3 James Polke reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC30A10 James Polke reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC20A2 James Polke reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SIGMAR1 James Polke reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SGCE James Polke reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SETX James Polke reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 RNF216 James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PSEN2 James Polke reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PSEN1 James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PRNP James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PRKRA James Polke reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRKN James Polke reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PLA2G6 James Polke reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PINK1 James Polke reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PFN1 James Polke reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDGFRB James Polke reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDGFB James Polke reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PARK7 James Polke reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PANK2 James Polke reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPTN James Polke reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 NPC2 James Polke reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NPC1 James Polke reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NOTCH3 James Polke reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 NHLRC1 James Polke reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIAA1161 James Polke reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MAPT James Polke reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 LRRK2 James Polke reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCND3 James Polke reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNC3 James Polke reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ITM2B James Polke reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 HTRA2 James Polke reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HTRA1 James Polke reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 HNRNPA1 James Polke reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HEXB James Polke reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HEXA James Polke reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRN James Polke reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 GFAP James Polke reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GBA James Polke reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FUS James Polke reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 FTL James Polke reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FMR1 James Polke reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FIG4 James Polke reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 FBXO7 James Polke reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 EPM2A James Polke reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ELOVL4 James Polke reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B5 James Polke reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B4 James Polke reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B3 James Polke reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B2 James Polke reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B1 James Polke reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 DNAJC6 James Polke reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNAJC5 James Polke reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DCTN1 James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 DARS2 James Polke reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP7B1 James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP2U1 James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP27A1 James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CSF1R James Polke reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 CP James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COQ8A James Polke reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COASY James Polke reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CLN6 James Polke reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CLCN2 James Polke reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHMP2B James Polke reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 CHCHD2 James Polke reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CCNF James Polke reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27080313, 29102476, 30008669; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CAPN1 James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNA1G James Polke reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATXN7 James Polke reviewed gene: ATXN7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ARSA James Polke reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 APP James Polke reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ANG James Polke reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ALS2 James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABCD1 James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 THAP1 Louise Daugherty Source NHS GMS was added to THAP1.
Adult onset neurodegenerative disorder v1.9 TH Louise Daugherty Source NHS GMS was added to TH.
Adult onset neurodegenerative disorder v1.8 ZFYVE26 Louise Daugherty Source London North GLH was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.8 YY1 Louise Daugherty Source London North GLH was added to YY1.
Adult onset neurodegenerative disorder v1.8 WWOX Louise Daugherty Source London North GLH was added to WWOX.
Adult onset neurodegenerative disorder v1.8 WFS1 Louise Daugherty Source London North GLH was added to WFS1.
Adult onset neurodegenerative disorder v1.8 WDR81 Louise Daugherty Source London North GLH was added to WDR81.
Adult onset neurodegenerative disorder v1.8 WDR73 Louise Daugherty Source London North GLH was added to WDR73.
Adult onset neurodegenerative disorder v1.8 WDR45B Louise Daugherty Source London North GLH was added to WDR45B.
Adult onset neurodegenerative disorder v1.8 WASHC5 Louise Daugherty Source London North GLH was added to WASHC5.
Adult onset neurodegenerative disorder v1.8 VRK1 Louise Daugherty Source London North GLH was added to VRK1.
Adult onset neurodegenerative disorder v1.8 VPS13D Louise Daugherty Source London North GLH was added to VPS13D.
Adult onset neurodegenerative disorder v1.8 VLDLR Louise Daugherty Source London North GLH was added to VLDLR.
Adult onset neurodegenerative disorder v1.8 VAMP1 Louise Daugherty Source London North GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.8 VAC14 Louise Daugherty Source London North GLH was added to VAC14.
Adult onset neurodegenerative disorder v1.8 TWNK Louise Daugherty Source London North GLH was added to TWNK.
Adult onset neurodegenerative disorder v1.8 TTPA Louise Daugherty Source London North GLH was added to TTPA.
Adult onset neurodegenerative disorder v1.8 TTBK2 Louise Daugherty Source London North GLH was added to TTBK2.
Adult onset neurodegenerative disorder v1.8 TSEN54 Louise Daugherty Source London North GLH was added to TSEN54.
Adult onset neurodegenerative disorder v1.8 TSEN2 Louise Daugherty Source London North GLH was added to TSEN2.
Adult onset neurodegenerative disorder v1.8 TPP1 Louise Daugherty Source London North GLH was added to TPP1.
Adult onset neurodegenerative disorder v1.8 TIA1 Louise Daugherty gene: TIA1 was added
gene: TIA1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: TIA1 was set to
Adult onset neurodegenerative disorder v1.8 TOR1A Louise Daugherty Source London North GLH was added to TOR1A.
Adult onset neurodegenerative disorder v1.8 THAP1 Louise Daugherty Source London North GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.8 TH Louise Daugherty Source London North GLH was added to TH.
Adult onset neurodegenerative disorder v1.8 TGM6 Louise Daugherty Source London North GLH was added to TGM6.
Adult onset neurodegenerative disorder v1.8 SYNE1 Louise Daugherty Source London North GLH was added to SYNE1.
Adult onset neurodegenerative disorder v1.8 STUB1 Louise Daugherty Source London North GLH was added to STUB1.
Adult onset neurodegenerative disorder v1.8 SRD5A3 Louise Daugherty Source London North GLH was added to SRD5A3.
Adult onset neurodegenerative disorder v1.8 SPTBN2 Louise Daugherty Source London North GLH was added to SPTBN2.
Adult onset neurodegenerative disorder v1.8 SPR Louise Daugherty Source London North GLH was added to SPR.
Adult onset neurodegenerative disorder v1.8 SPG7 Louise Daugherty Source London North GLH was added to SPG7.
Adult onset neurodegenerative disorder v1.8 SPART Louise Daugherty Source London North GLH was added to SPART.
Adult onset neurodegenerative disorder v1.8 SNX14 Louise Daugherty Source London North GLH was added to SNX14.
Adult onset neurodegenerative disorder v1.8 SLC9A6 Louise Daugherty Source London North GLH was added to SLC9A6.
Adult onset neurodegenerative disorder v1.8 SLC6A5 Louise Daugherty Source London North GLH was added to SLC6A5.
Adult onset neurodegenerative disorder v1.8 SLC52A3 Louise Daugherty Source London North GLH was added to SLC52A3.
Adult onset neurodegenerative disorder v1.8 SLC52A2 Louise Daugherty Source London North GLH was added to SLC52A2.
Adult onset neurodegenerative disorder v1.8 SLC39A14 Louise Daugherty Source London North GLH was added to SLC39A14.
Adult onset neurodegenerative disorder v1.8 SLC2A1 Louise Daugherty Source London North GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.8 SLC25A46 Louise Daugherty Source London North GLH was added to SLC25A46.
Adult onset neurodegenerative disorder v1.8 SLC1A4 Louise Daugherty Source London North GLH was added to SLC1A4.
Adult onset neurodegenerative disorder v1.8 SLC1A3 Louise Daugherty Source London North GLH was added to SLC1A3.
Adult onset neurodegenerative disorder v1.8 SLC16A2 Louise Daugherty Source London North GLH was added to SLC16A2.
Adult onset neurodegenerative disorder v1.8 SIL1 Louise Daugherty Source London North GLH was added to SIL1.
Adult onset neurodegenerative disorder v1.8 SERAC1 Louise Daugherty Source London North GLH was added to SERAC1.
Adult onset neurodegenerative disorder v1.8 SEPSECS Louise Daugherty Source London North GLH was added to SEPSECS.
Adult onset neurodegenerative disorder v1.8 SCN8A Louise Daugherty Source London North GLH was added to SCN8A.
Adult onset neurodegenerative disorder v1.8 SCN1A Louise Daugherty Source London North GLH was added to SCN1A.
Adult onset neurodegenerative disorder v1.8 SAR1B Louise Daugherty Source London North GLH was added to SAR1B.
Adult onset neurodegenerative disorder v1.8 SACS Louise Daugherty Source London North GLH was added to SACS.
Adult onset neurodegenerative disorder v1.8 RTN2 Louise Daugherty Source London North GLH was added to RTN2.
Adult onset neurodegenerative disorder v1.8 RNF170 Louise Daugherty Source London North GLH was added to RNF170.
Adult onset neurodegenerative disorder v1.8 REEP2 Louise Daugherty Source London North GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.8 REEP1 Louise Daugherty Source London North GLH was added to REEP1.
Adult onset neurodegenerative disorder v1.8 RARS2 Louise Daugherty Source London North GLH was added to RARS2.
Adult onset neurodegenerative disorder v1.8 RAB39B Louise Daugherty Source London North GLH was added to RAB39B.
Adult onset neurodegenerative disorder v1.8 PRRT2 Louise Daugherty Source London North GLH was added to PRRT2.
Adult onset neurodegenerative disorder v1.8 PRKCG Louise Daugherty Source London North GLH was added to PRKCG.
Adult onset neurodegenerative disorder v1.8 POLR3A Louise Daugherty Source London North GLH was added to POLR3A.
Adult onset neurodegenerative disorder v1.8 POLG Louise Daugherty Source London North GLH was added to POLG.
Adult onset neurodegenerative disorder v1.8 PNPLA6 Louise Daugherty Source London North GLH was added to PNPLA6.
Adult onset neurodegenerative disorder v1.8 PNKP Louise Daugherty Source London North GLH was added to PNKP.
Adult onset neurodegenerative disorder v1.8 PNKD Louise Daugherty Source London North GLH was added to PNKD.
Adult onset neurodegenerative disorder v1.8 PMPCA Louise Daugherty Source London North GLH was added to PMPCA.
Adult onset neurodegenerative disorder v1.8 PLP1 Louise Daugherty Source London North GLH was added to PLP1.
Adult onset neurodegenerative disorder v1.8 PEX16 Louise Daugherty Source London North GLH was added to PEX16.
Adult onset neurodegenerative disorder v1.8 PDYN Louise Daugherty Source London North GLH was added to PDYN.
Adult onset neurodegenerative disorder v1.8 PAX6 Louise Daugherty Source London North GLH was added to PAX6.
Adult onset neurodegenerative disorder v1.8 OPHN1 Louise Daugherty Source London North GLH was added to OPHN1.
Adult onset neurodegenerative disorder v1.8 OPA3 Louise Daugherty Source London North GLH was added to OPA3.
Adult onset neurodegenerative disorder v1.8 NKX6-2 Louise Daugherty Source London North GLH was added to NKX6-2.
Adult onset neurodegenerative disorder v1.8 NIPA1 Louise Daugherty Source London North GLH was added to NIPA1.
Adult onset neurodegenerative disorder v1.8 NEFH Louise Daugherty Source London North GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.8 MVK Louise Daugherty Source London North GLH was added to MVK.
Adult onset neurodegenerative disorder v1.8 MTTP Louise Daugherty Source London North GLH was added to MTTP.
Adult onset neurodegenerative disorder v1.8 MT-ATP6 Louise Daugherty Source London North GLH was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.8 MRE11 Louise Daugherty Source London North GLH was added to MRE11.
Adult onset neurodegenerative disorder v1.8 MMACHC Louise Daugherty Source London North GLH was added to MMACHC.
Adult onset neurodegenerative disorder v1.8 MECR Louise Daugherty Source London North GLH was added to MECR.
Adult onset neurodegenerative disorder v1.8 MARS2 Louise Daugherty Source London North GLH was added to MARS2.
Adult onset neurodegenerative disorder v1.8 MAG Louise Daugherty Source London North GLH was added to MAG.
Adult onset neurodegenerative disorder v1.8 L1CAM Louise Daugherty Source London North GLH was added to L1CAM.
Adult onset neurodegenerative disorder v1.8 KMT2B Louise Daugherty Source London North GLH was added to KMT2B.
Adult onset neurodegenerative disorder v1.8 KIF1C Louise Daugherty Source London North GLH was added to KIF1C.
Adult onset neurodegenerative disorder v1.8 KIF1A Louise Daugherty Source London North GLH was added to KIF1A.
Adult onset neurodegenerative disorder v1.8 KIDINS220 Louise Daugherty Source London North GLH was added to KIDINS220.
Adult onset neurodegenerative disorder v1.8 KDM5C Louise Daugherty Source London North GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.8 KCNQ3 Louise Daugherty Source London North GLH was added to KCNQ3.
Adult onset neurodegenerative disorder v1.8 KCNQ2 Louise Daugherty Source London North GLH was added to KCNQ2.
Adult onset neurodegenerative disorder v1.8 KCNK18 Louise Daugherty Source London North GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.8 KCNJ10 Louise Daugherty Source London North GLH was added to KCNJ10.
Adult onset neurodegenerative disorder v1.8 KCNA1 Louise Daugherty Source London North GLH was added to KCNA1.
Adult onset neurodegenerative disorder v1.8 ITPR1 Louise Daugherty Source London North GLH was added to ITPR1.
Adult onset neurodegenerative disorder v1.8 IBA57 Louise Daugherty Source London North GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.8 HSPD1 Louise Daugherty Source London North GLH was added to HSPD1.
Adult onset neurodegenerative disorder v1.8 HPCA Louise Daugherty Source London North GLH was added to HPCA.
Adult onset neurodegenerative disorder v1.8 HACE1 Louise Daugherty Source London North GLH was added to HACE1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.8 GRM1 Louise Daugherty Source London North GLH was added to GRM1.
Adult onset neurodegenerative disorder v1.8 GRID2 Louise Daugherty Source London North GLH was added to GRID2.
Adult onset neurodegenerative disorder v1.8 GPAA1 Louise Daugherty Source London North GLH was added to GPAA1.
Adult onset neurodegenerative disorder v1.8 GOSR2 Louise Daugherty Source London North GLH was added to GOSR2.
Adult onset neurodegenerative disorder v1.8 GNAO1 Louise Daugherty Source London North GLH was added to GNAO1.
Adult onset neurodegenerative disorder v1.8 GNAL Louise Daugherty Source London North GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.8 GLRB Louise Daugherty Source London North GLH was added to GLRB.
Adult onset neurodegenerative disorder v1.8 GLRA1 Louise Daugherty Source London North GLH was added to GLRA1.
Adult onset neurodegenerative disorder v1.8 GJC2 Louise Daugherty Source London North GLH was added to GJC2.
Adult onset neurodegenerative disorder v1.8 GCH1 Louise Daugherty Source London North GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.8 FXN Louise Daugherty Source London North GLH was added to FXN.
Adult onset neurodegenerative disorder v1.8 FOLR1 Louise Daugherty Source London North GLH was added to FOLR1.
Adult onset neurodegenerative disorder v1.8 FLVCR1 Louise Daugherty Source London North GLH was added to FLVCR1.
Adult onset neurodegenerative disorder v1.8 FGF14 Louise Daugherty Source London North GLH was added to FGF14.
Adult onset neurodegenerative disorder v1.8 FARS2 Louise Daugherty Source London North GLH was added to FARS2.
Adult onset neurodegenerative disorder v1.8 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Adult onset neurodegenerative disorder v1.8 EXOSC3 Louise Daugherty Source London North GLH was added to EXOSC3.
Adult onset neurodegenerative disorder v1.8 ERLIN2 Louise Daugherty Source London North GLH was added to ERLIN2.
Adult onset neurodegenerative disorder v1.8 DNAJC19 Louise Daugherty Source London North GLH was added to DNAJC19.
Adult onset neurodegenerative disorder v1.8 DMXL2 Louise Daugherty Source London North GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.8 DDHD2 Louise Daugherty Source London North GLH was added to DDHD2.
Adult onset neurodegenerative disorder v1.8 DDHD1 Louise Daugherty Source London North GLH was added to DDHD1.
Adult onset neurodegenerative disorder v1.8 DCAF17 Louise Daugherty Source London North GLH was added to DCAF17.
Adult onset neurodegenerative disorder v1.8 DARS Louise Daugherty Source London North GLH was added to DARS.
Adult onset neurodegenerative disorder v1.8 CWF19L1 Louise Daugherty Source London North GLH was added to CWF19L1.
Adult onset neurodegenerative disorder v1.8 CSTB Louise Daugherty Source London North GLH was added to CSTB.
Adult onset neurodegenerative disorder v1.8 COX20 Louise Daugherty Source London North GLH was added to COX20.
Adult onset neurodegenerative disorder v1.8 COG5 Louise Daugherty Source London North GLH was added to COG5.
Adult onset neurodegenerative disorder v1.8 CIZ1 Louise Daugherty Source London North GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.8 CHMP1A Louise Daugherty Source London North GLH was added to CHMP1A.
Adult onset neurodegenerative disorder v1.8 CDK16 Louise Daugherty Source London North GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.8 CASK Louise Daugherty Source London North GLH was added to CASK.
Adult onset neurodegenerative disorder v1.8 CAMTA1 Louise Daugherty Source London North GLH was added to CAMTA1.
Adult onset neurodegenerative disorder v1.8 CACNB4 Louise Daugherty Source London North GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.8 CACNA1A Louise Daugherty Source London North GLH was added to CACNA1A.
Adult onset neurodegenerative disorder v1.8 CA8 Louise Daugherty Source London North GLH was added to CA8.
Adult onset neurodegenerative disorder v1.8 C12orf65 Louise Daugherty Source London North GLH was added to C12orf65.
Adult onset neurodegenerative disorder v1.8 BSCL2 Louise Daugherty Source London North GLH was added to BSCL2.
Adult onset neurodegenerative disorder v1.8 B4GALNT1 Louise Daugherty Source London North GLH was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.8 ATP7B Louise Daugherty Source London North GLH was added to ATP7B.
Adult onset neurodegenerative disorder v1.8 ATP1A2 Louise Daugherty Source London North GLH was added to ATP1A2.
Adult onset neurodegenerative disorder v1.8 ATM Louise Daugherty Source London North GLH was added to ATM.
Adult onset neurodegenerative disorder v1.8 ATL1 Louise Daugherty Source London North GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.8 ATCAY Louise Daugherty Source London North GLH was added to ATCAY.
Adult onset neurodegenerative disorder v1.8 ARG1 Louise Daugherty Source London North GLH was added to ARG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.8 APTX Louise Daugherty Source London North GLH was added to APTX.
Adult onset neurodegenerative disorder v1.8 AP4S1 Louise Daugherty Source London North GLH was added to AP4S1.
Adult onset neurodegenerative disorder v1.8 AP4M1 Louise Daugherty Source London North GLH was added to AP4M1.
Adult onset neurodegenerative disorder v1.8 AP4E1 Louise Daugherty Source London North GLH was added to AP4E1.
Adult onset neurodegenerative disorder v1.8 AP4B1 Louise Daugherty Source London North GLH was added to AP4B1.
Adult onset neurodegenerative disorder v1.8 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.8 ANO3 Louise Daugherty Source London North GLH was added to ANO3.
Adult onset neurodegenerative disorder v1.8 ANO10 Louise Daugherty Source London North GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.8 AMPD2 Louise Daugherty Source London North GLH was added to AMPD2.
Adult onset neurodegenerative disorder v1.8 ALDH18A1 Louise Daugherty Source London North GLH was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.8 AIMP1 Louise Daugherty Source London North GLH was added to AIMP1.
Adult onset neurodegenerative disorder v1.8 ADCY5 Louise Daugherty Source London North GLH was added to ADCY5.
Adult onset neurodegenerative disorder v1.8 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Adult onset neurodegenerative disorder v1.8 ABHD12 Louise Daugherty Source London North GLH was added to ABHD12.
Adult onset neurodegenerative disorder v1.8 ABCB7 Louise Daugherty Source London North GLH was added to ABCB7.
Adult onset neurodegenerative disorder v1.8 AAAS Louise Daugherty Source London North GLH was added to AAAS.
Adult onset neurodegenerative disorder v1.8 CHCHD10 Louise Daugherty Source London North GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.8 XPR1 Louise Daugherty gene: XPR1 was added
gene: XPR1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: XPR1 was set to
Adult onset neurodegenerative disorder v1.8 WDR45 Louise Daugherty Source London North GLH was added to WDR45.
Adult onset neurodegenerative disorder v1.8 VPS35 Louise Daugherty Source London North GLH was added to VPS35.
Adult onset neurodegenerative disorder v1.8 VPS13A Louise Daugherty Source London North GLH was added to VPS13A.
Adult onset neurodegenerative disorder v1.8 VCP Louise Daugherty Source London North GLH was added to VCP.
Adult onset neurodegenerative disorder v1.8 VAPB Louise Daugherty Source London North GLH was added to VAPB.
Adult onset neurodegenerative disorder v1.8 UBQLN2 Louise Daugherty Source London North GLH was added to UBQLN2.
Adult onset neurodegenerative disorder v1.8 TYROBP Louise Daugherty Source London North GLH was added to TYROBP.
Adult onset neurodegenerative disorder v1.8 TUBB4A Louise Daugherty Source London North GLH was added to TUBB4A.
Adult onset neurodegenerative disorder v1.8 TTC19 Louise Daugherty Source London North GLH was added to TTC19.
Adult onset neurodegenerative disorder v1.8 TREM2 Louise Daugherty Source London North GLH was added to TREM2.
Adult onset neurodegenerative disorder v1.8 TMEM240 Louise Daugherty Source London North GLH was added to TMEM240.
Adult onset neurodegenerative disorder v1.8 TBK1 Louise Daugherty Source London North GLH was added to TBK1.
Adult onset neurodegenerative disorder v1.8 TARDBP Louise Daugherty Source London North GLH was added to TARDBP.
Adult onset neurodegenerative disorder v1.8 TAF1 Louise Daugherty Source London North GLH was added to TAF1.
Adult onset neurodegenerative disorder v1.8 SYNJ1 Louise Daugherty Source London North GLH was added to SYNJ1.
Adult onset neurodegenerative disorder v1.8 SQSTM1 Louise Daugherty gene: SQSTM1 was added
gene: SQSTM1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: SQSTM1 was set to
Adult onset neurodegenerative disorder v1.8 SPG21 Louise Daugherty Source London North GLH was added to SPG21.
Adult onset neurodegenerative disorder v1.8 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Adult onset neurodegenerative disorder v1.8 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.8 SOD1 Louise Daugherty Source London North GLH was added to SOD1.
Adult onset neurodegenerative disorder v1.8 SNCA Louise Daugherty Source London North GLH was added to SNCA.
Adult onset neurodegenerative disorder v1.8 SLC6A3 Louise Daugherty Source London North GLH was added to SLC6A3.
Adult onset neurodegenerative disorder v1.8 SLC30A10 Louise Daugherty Source London North GLH was added to SLC30A10.
Adult onset neurodegenerative disorder v1.8 SLC20A2 Louise Daugherty Source London North GLH was added to SLC20A2.
Adult onset neurodegenerative disorder v1.8 SIGMAR1 Louise Daugherty Source London North GLH was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.8 SGCE Louise Daugherty Source London North GLH was added to SGCE.
Adult onset neurodegenerative disorder v1.8 SETX Louise Daugherty Source London North GLH was added to SETX.
Adult onset neurodegenerative disorder v1.8 RNF216 Louise Daugherty Source London North GLH was added to RNF216.
Adult onset neurodegenerative disorder v1.8 PSEN2 Louise Daugherty Source London North GLH was added to PSEN2.
Adult onset neurodegenerative disorder v1.8 PSEN1 Louise Daugherty Source London North GLH was added to PSEN1.
Adult onset neurodegenerative disorder v1.8 PRNP Louise Daugherty Source London North GLH was added to PRNP.
Adult onset neurodegenerative disorder v1.8 PRKRA Louise Daugherty Source London North GLH was added to PRKRA.
Adult onset neurodegenerative disorder v1.8 PRKN Louise Daugherty Source London North GLH was added to PRKN.
Adult onset neurodegenerative disorder v1.8 PLA2G6 Louise Daugherty Source London North GLH was added to PLA2G6.
Adult onset neurodegenerative disorder v1.8 PINK1 Louise Daugherty Source London North GLH was added to PINK1.
Adult onset neurodegenerative disorder v1.8 PFN1 Louise Daugherty Source London North GLH was added to PFN1.
Adult onset neurodegenerative disorder v1.8 PDGFRB Louise Daugherty Source London North GLH was added to PDGFRB.
Adult onset neurodegenerative disorder v1.8 PDGFB Louise Daugherty gene: PDGFB was added
gene: PDGFB was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: PDGFB was set to
Adult onset neurodegenerative disorder v1.8 PARK7 Louise Daugherty Source London North GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.8 PANK2 Louise Daugherty Source London North GLH was added to PANK2.
Adult onset neurodegenerative disorder v1.8 OPTN Louise Daugherty Source London North GLH was added to OPTN.
Adult onset neurodegenerative disorder v1.8 NPC2 Louise Daugherty Source London North GLH was added to NPC2.
Adult onset neurodegenerative disorder v1.8 NPC1 Louise Daugherty Source London North GLH was added to NPC1.
Adult onset neurodegenerative disorder v1.8 NOTCH3 Louise Daugherty Source London North GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.8 NHLRC1 Louise Daugherty Source London North GLH was added to NHLRC1.
Adult onset neurodegenerative disorder v1.8 KIAA1161 Louise Daugherty gene: KIAA1161 was added
gene: KIAA1161 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIAA1161 was set to
Adult onset neurodegenerative disorder v1.8 MAPT Louise Daugherty Source London North GLH was added to MAPT.
Adult onset neurodegenerative disorder v1.8 LYST Louise Daugherty Source London North GLH was added to LYST.
Adult onset neurodegenerative disorder v1.8 LRRK2 Louise Daugherty Source London North GLH was added to LRRK2.
Adult onset neurodegenerative disorder v1.8 KIF5A Louise Daugherty Source London North GLH was added to KIF5A.
Adult onset neurodegenerative disorder v1.8 KCND3 Louise Daugherty Source London North GLH was added to KCND3.
Adult onset neurodegenerative disorder v1.8 KCNC3 Louise Daugherty Source London North GLH was added to KCNC3.
Adult onset neurodegenerative disorder v1.8 ITM2B Louise Daugherty Source London North GLH was added to ITM2B.
Adult onset neurodegenerative disorder v1.8 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Adult onset neurodegenerative disorder v1.8 HTRA1 Louise Daugherty Source London North GLH was added to HTRA1.
Adult onset neurodegenerative disorder v1.8 HNRNPA1 Louise Daugherty Source London North GLH was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.8 HEXB Louise Daugherty Source London North GLH was added to HEXB.
Adult onset neurodegenerative disorder v1.8 HEXA Louise Daugherty Source London North GLH was added to HEXA.
Adult onset neurodegenerative disorder v1.8 GRN Louise Daugherty Source London North GLH was added to GRN.
Adult onset neurodegenerative disorder v1.8 GFAP Louise Daugherty Source London North GLH was added to GFAP.
Adult onset neurodegenerative disorder v1.8 GBA2 Louise Daugherty Source London North GLH was added to GBA2.
Adult onset neurodegenerative disorder v1.8 GBA Louise Daugherty Source London North GLH was added to GBA.