Activity
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| Adult onset neurodegenerative disorder v9.1 | LRSAM1 |
Oliver Ziff gene: LRSAM1 was added gene: LRSAM1 was added to Adult onset neurodegenerative disorder. Sources: Literature,Expert Review Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRSAM1 were set to 22781092; 28335037 Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436 Penetrance for gene: LRSAM1 were set to Complete Mode of pathogenicity for gene: LRSAM1 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: LRSAM1 was set to GREEN gene: LRSAM1 was marked as current diagnostic Added comment: Causes CMT2P with marked motor features out of proportion to sensory loss, presenting as an PMA mimic. Needs inclusion in R460.1 to avoid R78 reanalysis. Sources: Literature, Expert Review |
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| Adult onset neurodegenerative disorder v9.1 | MORC2 |
Oliver Ziff gene: MORC2 was added gene: MORC2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MORC2 were set to 26497905; 26659848 Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Penetrance for gene: MORC2 were set to Complete Mode of pathogenicity for gene: MORC2 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: MORC2 was set to GREEN gene: MORC2 was marked as current diagnostic Added comment: Causes CMT2Z. Presents with prominent SMA-like proximal and distal weakness in adults, mimicking PMA. Needs inclusion in R460.1 to avoid R78 reanalysis. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | MME |
Oliver Ziff gene: MME was added gene: MME was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: MME was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MME were set to 26924531 Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017 Penetrance for gene: MME were set to Complete Mode of pathogenicity for gene: MME 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: MME was set to GREEN gene: MME was marked as current diagnostic Added comment: MME variants frequently present as a late-onset >40 years motor-predominant axonal polyneuropathy. Because the clinical presentation features progressive distal lower motor neuron weakness and wasting in adulthood, it mimics Progressive Muscular Atrophy and LMN-variant MND. Adding it to the R460.1 panel is necessary to capture these mimics upfront and prevent sequential R78 WGS reanalysis for patients on the MND diagnostic pathway. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | UBA1 |
Oliver Ziff gene: UBA1 was added gene: UBA1 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: UBA1 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: UBA1 were set to 18179898; 31932168; 26456228; 27797960; 35919735; 33108101 Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, OMIM:301830 Penetrance for gene: UBA1 were set to Complete Mode of pathogenicity for gene: UBA1 was set to Other Review for gene: UBA1 was set to GREEN gene: UBA1 was marked as current diagnostic Added comment: Germline UBA1 variants cause SMAX2, an anterior horn cell disorder that presents with progressive lower motor neuron degeneration. It is a direct clinical and biological mimic of PMA/LMN-variant ALS and should be included on the MND panel to prevent diagnostic misses. Needs inclusion in R460.1 Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | ATP7A |
Oliver Ziff gene: ATP7A was added gene: ATP7A was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: ATP7A 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: ATP7A were set to 20170900 Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, X-linked 3, distal, OMIM:300489 Penetrance for gene: ATP7A were set to Complete Mode of pathogenicity for gene: ATP7A was set to Other Review for gene: ATP7A was set to GREEN gene: ATP7A was marked as current diagnostic Added comment: Specific missense variants cause X-linked distal motor neuropathy (SMAX3), mimicking adult LMN disease without systemic Menkes features. Needs inclusion in R460.1 to prevent R78 reanalysis. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | IGHMBP2 |
Oliver Ziff gene: IGHMBP2 was added gene: IGHMBP2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: IGHMBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IGHMBP2 were set to 26392352; 34726235 Phenotypes for gene: IGHMBP2 were set to Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 Penetrance for gene: IGHMBP2 were set to Incomplete Mode of pathogenicity for gene: IGHMBP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added comment: Causes a slowly progressive adult-onset distal SMA. Phenotypically overlaps with LMN-variant MND. Needs inclusion in R460.1 ALS panel to avoid R78 reanalysis. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | SORD |
Oliver Ziff gene: SORD was added gene: SORD was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SORD were set to 323670585; 33314640; 33397963 Phenotypes for gene: SORD were set to Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912; Neuropathy, distal hereditary motor, OMIM:158590 Penetrance for gene: SORD were set to Complete Mode of pathogenicity for gene: SORD 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: SORD was set to GREEN gene: SORD was marked as current diagnostic Added comment: Prevalent cause of recessive dHMN/CMT2. It frequently presents as progressive LMN weakness in adulthood, making it a critical, potentially treatable ALS mimic. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | SYT2 |
Oliver Ziff gene: SYT2 was added gene: SYT2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYT2 were set to 26519543; 30533528 Phenotypes for gene: SYT2 were set to Neuropathy, distal hereditary motor, OMIM:158590; Progressive muscular atrophy, OMIM:105400 Penetrance for gene: SYT2 were set to Complete Mode of pathogenicity for gene: SYT2 was set to Other Added comment: Presents as a slowly progressive distal motor neuropathy and LMN syndrome mimicking PMA. mimics LMN-predominant MND, necessitating upfront R460.1 screening. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | SLC5A7 |
Oliver Ziff gene: SLC5A7 was added gene: SLC5A7 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC5A7 were set to 29782645; 23141292 Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA Penetrance for gene: SLC5A7 were set to Complete Mode of pathogenicity for gene: SLC5A7 was set to Other Review for gene: SLC5A7 was set to GREEN gene: SLC5A7 was marked as current diagnostic Added comment: Dominant negative variants cause a distal hereditary motor neuropathy (dHMN7A) mimicking progressive isolated LMN degeneration. mimics LMN-predominant MND, necessitating upfront screening. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | TRPV4 |
Oliver Ziff gene: TRPV4 was added gene: TRPV4 was added to Adult onset neurodegenerative disorder. Sources: Literature,Expert Review Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV4 were set to 20037586 Phenotypes for gene: TRPV4 were set to Hereditary motor and sensory neuropathy, type IIc, 606071 Penetrance for gene: TRPV4 were set to Complete Mode of pathogenicity for gene: TRPV4 was set to Other Review for gene: TRPV4 was set to GREEN gene: TRPV4 was marked as current diagnostic Added comment: Causes scapuloperoneal SMA and dHMN. The progressive motor weakness frequently mimics LMN-predominant MND, necessitating upfront R460.1 screening. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Literature, Expert Review |
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| Adult onset neurodegenerative disorder v9.1 | PLEKHG5 |
Oliver Ziff gene: PLEKHG5 was added gene: PLEKHG5 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG5 were set to 23844677; 17564964 Phenotypes for gene: PLEKHG5 were set to Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Penetrance for gene: PLEKHG5 were set to Complete Mode of pathogenicity for gene: PLEKHG5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added comment: Causes a late-onset distal hereditary motor neuropathy and SMA with progressive LMN signs that mimic PMA. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | HSPB8 |
Oliver Ziff gene: HSPB8 was added gene: HSPB8 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HSPB8 were set to Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590; Neuropathy, distal hereditary motor, type IIA, 158590 Penetrance for gene: HSPB8 were set to Incomplete Mode of pathogenicity for gene: HSPB8 was set to Other Review for gene: HSPB8 was set to GREEN Added comment: Heat shock protein variant classically present with a late-onset, progressive lower motor neuron phenotype that clinically mimics progressive muscular atrophy. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v9.1 | HSPB1 |
Oliver Ziff gene: HSPB1 was added gene: HSPB1 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB1 were set to 15122254; 28379183 Phenotypes for gene: HSPB1 were set to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, type 2F, OMIM:606595 Penetrance for gene: HSPB1 were set to Incomplete Mode of pathogenicity for gene: HSPB1 was set to Other Review for gene: HSPB1 was set to GREEN gene: HSPB1 was marked as current diagnostic Added comment: HSPB1 variants (typically toxic gain-of-function missense mutations) frequently present with a late-onset, progressive lower motor neuron phenotype that clinically mimics progressive muscular atrophy (PMA) and ALS. Adding this target to the Adult onset neurodegenerative disorder component panel is necessary to capture these LMN mimics upfront on WGS requests for suspected MND (R460.1), preventing sequential and costly WGS reanalysis requests for the neuropathy panel (R78). Sources: Expert Review, Literature |
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| Adult onset neurodegenerative disorder v8.22 |
Achchuthan Shanmugasundram List of related panels changed from Neurodegenerative disorders - adult onset; R58 to Neurodegenerative disorders - adult onset; Young onset or familial dementia; Young onset or complex Parkinson disease; Amyotrophic lateral sclerosis; Cerebral amyloid angiopathy; R58 Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off |
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| Adult onset neurodegenerative disorder v8.15 | CST3 | Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewes note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.15 | CST3 | Achchuthan Shanmugasundram commented on gene: CST3: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewes note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.11 | JAM2 |
Lucy Jackson gene: JAM2 was added gene: JAM2 was added to Adult onset neurodegenerative disorder. Sources: Literature Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM2 were set to 31851307; 37446066 Phenotypes for gene: JAM2 were set to Basal ganglia calcification 7, 618317; Primary familial brain calcification; Fahr syndrome Review for gene: JAM2 was set to GREEN Added comment: Sources: Literature |
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| Adult onset neurodegenerative disorder v8.3 | SPTLC2 | Ida Ertmanska commented on gene: SPTLC2: Comment on list classification: There are at least 10 unrelated patients reported with juvenile onset ALS with monoallelic variants in SPTLC2 (9 de novo, 1 familial case with demonstrated autosomal dominant inheritance). Based on the available evidence, this gene should be rated Green for Adult onset neurodegenerative disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.3 | SPTLC2 |
Ida Ertmanska gene: SPTLC2 was added gene: SPTLC2 was added to Adult onset neurodegenerative disorder. Sources: Literature Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC2 were set to 38041684; 38041679; 38316966 Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, OMIM:613640; amyotrophic lateral sclerosis 27, juvenile, MONDO:0859529 Review for gene: SPTLC2 was set to GREEN Added comment: Monoallelic variants in SPTLC2 have been associated with juvenile-onset ;amyotrophic lateral sclerosis: PMID: 38041679 Syeda 2024 - 6 unrelated patients with a recurrent de novo variant p.Glu260Lys PMID: 38316966 Naruse 2024 - 2 unrelated families - p.Ala71Val, p.Met68Arg PMID: 38041684 Dohrn 2024 - 2 unrelated patients with the same de novo variant p.Met68Argetc Sources: Literature |
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| Adult onset neurodegenerative disorder v8.3 | SPTLC1 | Ida Ertmanska commented on gene: SPTLC1: Comment on list classification: There are at least 11 unrelated cases with juvenile-onset ALS with monoallelic SPTLC1 variants (age of onset between 3-16 years). Variants were confirmed as de novo in 9/11 families. According to functional studies, ALS causing variants tend to cluster in the N-terminal transmembrane domain. Based on the available evidence, SPTLC1 fits into the scope of this panel and should be rated Green for Adult onset neurodegenerative disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.3 | SPTLC1 |
Ida Ertmanska changed review comment from: As reviewed by James Polke, there are at least 11 unrelated cases with juvenile ALS with monoallelic SPTLC1 variants: PMID: 34059824 Mohassel et al., 2021 11 patients from seven independent families with 4 different SPTLC1 variants, with juvenile ALS (age of onset 3-16 years). Affected individuals presented with abnormal gait, toe walking, lower extremities spasticity, respiratory insufficiency, and progressive weakness. EMG signal amplitude and duration were elevated in 9/11 patients tested; compound muscle action potential in motor NCS was low in all 11 patients. Variants were either de novo (Families 1-6) or inherited in an autosomal dominant manner (Family 7), not present in gnomAD v4: Reported variants: c.58G>T, p.A20S; c.68A>T p.Y23F; c.115_117delCTT p.L39del; c.118_123delTTCTCT p.F40_S41del. PMID: 34459874 Johnson et al., 2021 Identified pathogenic SPTLC1 variants in 4 unrelated patients with juvenile ALS (age of onset: 4-15 years). Variants identified: p.Ala20Ser, p.Ser331Tyr, p.Leu39del - Method: WES; confirmed de novo in 3 / 4 individuals. Functional evidence: Evidence for pathogenicity of variants: PMID: 35900868 Lone et al., 2022. Authors tested HSAN1 variants C133W and S331F, and juvenile ALS variants Y23F, L39del, F40S41del. Study showed that pathogenic SPTLC1-ALS alleles disrupt the normal regulation of SPT, leading to increased synthesis of sphingolipids and potentially damaging motor neuronse. Results indicate a separate disease mechanism: variants in SPTLC1 may cause HSAN1 or juvenile ALS, depending on the variant. Mouse model: PMID: 40027730 Pant et al. 2025 (preprint) - novel mouse model with a CRISPR/Cas9-mediated deletion of exon 2 in Sptlc1. Heterozygous mice did not develop motor defects or ALS-like neuropathology, but homozygous mutants died prematurely. SPTLC1 is associated with AD Amyotrophic lateral sclerosis 27, juvenile, OMIM:620285 and AD Neuropathy, hereditary sensory and autonomic, type IA OMIM:162400 (accessed 10th Oct 2025). Based on the available evidence, SPTLC1 fits into the scope of this panel and should be rated Green for Adult onset neurodegenerative disorder.; to: As reviewed by James Polke, SPTLC1 variants are associated with juvenile-onset amyotrophic lateral sclerosis. There are at least 11 unrelated cases with juvenile ALS with monoallelic SPTLC1 variants: PMID: 34059824 Mohassel et al., 2021 11 patients from seven independent families with 4 different SPTLC1 variants, with juvenile ALS (age of onset 3-16 years). Affected individuals presented with abnormal gait, toe walking, lower extremities spasticity, respiratory insufficiency, and progressive weakness. EMG signal amplitude and duration were elevated in 9/11 patients tested; compound muscle action potential in motor NCS was low in all 11 patients. Variants were either de novo (Families 1-6) or inherited in an autosomal dominant manner (Family 7), none of them present in gnomAD v4. Reported variants: c.58G>T, p.A20S; c.68A>T p.Y23F; c.115_117delCTT p.L39del; c.118_123delTTCTCT p.F40_S41del. PMID: 34459874 Johnson et al., 2021 Identified pathogenic SPTLC1 variants in 4 unrelated patients with juvenile ALS (age of onset: 4-15 years). Variants identified: p.Ala20Ser (2 patients), p.Ser331Tyr, p.Leu39del - Method: WES; confirmed de novo in 3 / 4 individuals. Functional evidence: Evidence for pathogenicity of variants: PMID: 35900868 Lone et al., 2022. Authors tested HSAN1 variants C133W and S331F, and juvenile ALS variants Y23F, L39del, F40S41del. Study showed that pathogenic SPTLC1 ALS-related alleles disrupt the normal regulation of SPT, leading to increased synthesis of sphingolipids and potentially damaging motor neurons. ALS causing variants tend to cluster in the N-terminal transmembrane domain (TMD); variants in the cytosolic domain are largely associated with HSAN1. Mouse model: PMID: 40027730 Pant et al. 2025 (preprint) - novel mouse model with a CRISPR/Cas9-mediated deletion of exon 2 in Sptlc1. Heterozygous mice did not develop motor defects or ALS-like neuropathology, but homozygous mutants died prematurely. SPTLC1 is associated with AD Amyotrophic lateral sclerosis 27, juvenile, OMIM:620285 and AD Neuropathy, hereditary sensory and autonomic, type IA OMIM:162400 (accessed 10th Oct 2025). |
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| Adult onset neurodegenerative disorder v8.3 | SPTLC1 |
Ida Ertmanska changed review comment from: As reviewed by James Polke, there are at least 11 unrelated cases with juvenile ALS with monoallelic SPTLC1 variants: PMID: 34059824 Mohassel et al., 2021 11 patients from seven independent families with 4 different SPTLC1 variants, with juvenile ALS (age of onset 3-16 years). Affected individuals presented with abnormal gait, toe walking, lower extremities spasticity, respiratory insufficiency, and progressive weakness. EMG signal amplitude and duration were elevated in 9/11 patients tested; compound muscle action potential in motor NCS was low in all 11 patients. Variants were either de novo (Families 1-6) or inherited in an autosomal dominant manner (Family 7), not present in gnomAD v4: Reported variants: c.58G>T, p.A20S; c.68A>T p.Y23F; c.115_117delCTT p.L39del; c.118_123delTTCTCT p.F40_S41del. PMID: 34459874 Johnson et al., 2021 Identified pathogenic SPTLC1 variants in 4 unrelated patients with juvenile ALS (age of onset: 4-15 years). Variants identified: p.Ala20Ser, p.Ser331Tyr, p.Leu39del - Method: WES; confirmed de novo in 3 / 4 individuals. Functional evidence: Evidence for pathogenicity of variants: PMID: 35900868 Lone et al., 2022. Authors tested HSAN1 variants C133W and S331F, and juvenile ALS variants Y23F, L39del, F40S41del. Study showed that pathogenic SPTLC1-ALS alleles disrupt the normal regulation of SPT, leading to increased synthesis of sphingolipids and potentially damaging motor neuronse. Results indicate a separate disease mechanism: variants in SPTLC1 may cause HSAN1 or juvenile ALS, depending on the variant. Mouse model: PMID: 40027730 Pant et al. 2025 (preprint) - novel mouse model with a CRISPR/Cas9-mediated deletion of exon 2 in Sptlc1. Heterozygous mice did not develop motor defects or ALS-like neuropathology, but homozygous mutants died prematurely. SPTLC1 is associated with AD Amyotrophic lateral sclerosis 27, juvenile, OMIM:620285 and AD Neuropathy, hereditary sensory and autonomic, type IA OMIM:162400. Based on the available evidence, SPTLC1 fits into the scope of this panel and should be rated Green for Adult onset neurodegenerative disorder.; to: As reviewed by James Polke, there are at least 11 unrelated cases with juvenile ALS with monoallelic SPTLC1 variants: PMID: 34059824 Mohassel et al., 2021 11 patients from seven independent families with 4 different SPTLC1 variants, with juvenile ALS (age of onset 3-16 years). Affected individuals presented with abnormal gait, toe walking, lower extremities spasticity, respiratory insufficiency, and progressive weakness. EMG signal amplitude and duration were elevated in 9/11 patients tested; compound muscle action potential in motor NCS was low in all 11 patients. Variants were either de novo (Families 1-6) or inherited in an autosomal dominant manner (Family 7), not present in gnomAD v4: Reported variants: c.58G>T, p.A20S; c.68A>T p.Y23F; c.115_117delCTT p.L39del; c.118_123delTTCTCT p.F40_S41del. PMID: 34459874 Johnson et al., 2021 Identified pathogenic SPTLC1 variants in 4 unrelated patients with juvenile ALS (age of onset: 4-15 years). Variants identified: p.Ala20Ser, p.Ser331Tyr, p.Leu39del - Method: WES; confirmed de novo in 3 / 4 individuals. Functional evidence: Evidence for pathogenicity of variants: PMID: 35900868 Lone et al., 2022. Authors tested HSAN1 variants C133W and S331F, and juvenile ALS variants Y23F, L39del, F40S41del. Study showed that pathogenic SPTLC1-ALS alleles disrupt the normal regulation of SPT, leading to increased synthesis of sphingolipids and potentially damaging motor neuronse. Results indicate a separate disease mechanism: variants in SPTLC1 may cause HSAN1 or juvenile ALS, depending on the variant. Mouse model: PMID: 40027730 Pant et al. 2025 (preprint) - novel mouse model with a CRISPR/Cas9-mediated deletion of exon 2 in Sptlc1. Heterozygous mice did not develop motor defects or ALS-like neuropathology, but homozygous mutants died prematurely. SPTLC1 is associated with AD Amyotrophic lateral sclerosis 27, juvenile, OMIM:620285 and AD Neuropathy, hereditary sensory and autonomic, type IA OMIM:162400 (accessed 10th Oct 2025). Based on the available evidence, SPTLC1 fits into the scope of this panel and should be rated Green for Adult onset neurodegenerative disorder. |
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| Adult onset neurodegenerative disorder v8.1 | ISCA-37446-Loss |
Lauren Turton Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Adult onset neurodegenerative disorder. Sources: NHS GMS Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37446-Loss were set to 24018986; 27017469 Phenotypes for Region: ISCA-37446-Loss were set to DIGEORGE SYNDROME; DGS (OMIM: 188400) Penetrance for Region: ISCA-37446-Loss were set to Complete Review for Region: ISCA-37446-Loss was set to AMBER Region: ISCA-37446-Loss was marked as current diagnostic Added comment: PMID: 24018986 159 adults diagnosed with 22q11.2DS. Four of 68 subjects (5.9%) aged 35 to 64 years with 22q11.2 deletions had been diagnosed as having PD (standardized morbidity ratio = 91.7; 95% CI, 25.0–234.8). Prevalence 5.9% in this cohort, however many of the individuals in 18-34 age group (n=90). PMID: 27017469 We included array-based copy number variation data from 9387 patients with Parkinson's disease and 13 863 controls. Eight patients with Parkinson's disease and none of the controls had 22q11.2 deletions (p=0·00082). In the 8451 patients for whom age at onset data were available, deletions at 22q11.2 were associated with Parkinson's disease age at onset (Mann-Whitney U test p=0·001). In Sheffield we also have a case with DiGeorge syndrome, that was referred for genetic testing due to parkinsonism as the primary referral reason. The patient also had other clinical features compatible with DiGeorge syndrome. Added as amber as it is likely these patients will have other features that make them eligible for alternative panels such as R29. Sources: NHS GMS |
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| Adult onset neurodegenerative disorder v7.15 | CST3 |
Achchuthan Shanmugasundram edited their review of gene: CST3: Added comment: PMID:38489591 reported 16 patients from eight families with a novel adult-onset leukodystrophy disorder and with one of four different stop-gain or frameshift monoallelic variants in the CST3 gene. The reported variants are c.360del, c.357+1del, c.340C>T and c.376C>T, and none of these variants are found in general population (gnomAD). Clinical and radiological features of these patients differ markedly from the previously described Icelandic cerebral amyloid angiopathy found in patients carrying p.Leu68Asn substitution in CST3. The clinical phenotype consists of recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits and slowly progressing motor symptoms and cognitive decline in mid to older adult ages. Cognitive decline and dementia were present in 11 patients from seven families, of which seven patients from four families were aged below 55. PMID:38729262 reported two unrelated Chinese individuals with adult-onset leukodystrophy and with monoallelic CST3 variants. One patient had the previously reported c.340C>T variant, while the other had novel c.357+1G>T variant. Memory deterioration and cognitive decline has been noted in the 48-year-old female patient with the novel variant. This gene has only been reported with Cerebral amyloid angiopathy (MIM #105150) and not yet with the adult-onset leukodystrophy phenotype in OMIM.; Changed rating: GREEN; Changed publications to: 38489591, 38729262; Changed phenotypes to: Cerebral amyloid angiopathy, OMIM:105150, leukodystrophy, MONDO:0019046; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Adult onset neurodegenerative disorder v7.13 | SGIP1 |
Arina Puzriakova gene: SGIP1 was added gene: SGIP1 was added to Adult onset neurodegenerative disorder. Sources: Literature Mode of inheritance for gene: SGIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGIP1 were set to 39332416 Phenotypes for gene: SGIP1 were set to Early-onset parkinsonism Added comment: PMID: 39332416 (2024) - consanguineous Arab family with two affected sisters who manifested young-onset parkinsonism (onset at age 19 and 22). Other features include intellectual/cognitive dysfunction, behavioral problems, and seizures (in one individual). WES revealed a homozygous missense variant (c.2080T>G (p.W694G)) in the SGIP1 gene. Functional studies in Drosophila demonstrated movement defects, synaptic transmission dysfunction, and neurodegeneration, including dopaminergic synapse loss. Rating Red as only a single family has been reported to date. Sources: Literature |
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| Adult onset neurodegenerative disorder v7.12 | SPR |
Arina Puzriakova Added comment: Comment on mode of inheritance: Sepiapterin reductase deficiency typically follows an autosomal recessive pattern of inheritance. Two cases with different heterozygous variants have been reported (PMID: 29147684, 15241655) although with reduced penetrance in the familial cases and mild form of the disorder in the singleton. Overall additional evidence is required to conclusively make an association with monoallelic variants and therefore updating the MOI from 'Both mono- and biallelic' to 'Biallelic' |
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| Adult onset neurodegenerative disorder v7.8 | POLG | Sarah Leigh changed review comment from: In their study of a 1185 Spanish Parkinson disease patients, PMID: 39498811 report eleven individuals carrying heterozygous POLG variants. Seven POLG variants were identified in the patients, including the co-occurrence of c.752C>T, p.Thr251Ile and c.1760C>Tp.Pro587Leu (NM_002693.3), which are in cis. The phenotypic features of these patients included motor fluctuations (81.8%), dyskinesias (70%), cognitive impairment (80%), rapid eye movement sleep behavior disorder (70%) and olfactory dysfunction (71.4%). Ataxia or peripheral neuropathy were not reported for these patients (PMID: 39498811).; to: In their study of a 1185 Spanish Parkinson disease patients, PMID: 39498811 report eleven individuals carrying heterozygous POLG variants. Seven POLG variants were identified in the patients, including the co-occurrence of c.752C>T, p.Thr251Ile and c.1760C>Tp.Pro587Leu (NM_002693.3), which are in cis. The phenotypic features of these patients included motor fluctuations (81.8%), dyskinesias (70%), cognitive impairment (80%), rapid eye movement sleep behavior disorder (70%) and olfactory dysfunction (71.4%). Ataxia or peripheral neuropathy were not reported for these patients (PMID: 39498811). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.2 | TWNK | Arina Puzriakova Phenotypes for gene: TWNK were changed from 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 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.1 | NOP56_GGCCTG |
Arina Puzriakova commented on STR: NOP56_GGCCTG: Heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene causes spinocerebellar ataxia-36 (SCA36), an adult-onset slowly progressive neurodegenerative disorder which is within the scope of this panel. Sufficient unrelated cases to support the gene-disease association. Flagging for additional GMS review to determine whether inclusion on this panel is beneficial as this STR was downgraded in 2020 due to omission from expert provided lists for this panel. Currently this STR is only included as part of the R54 Hereditary ataxia with onset in adulthood GMS panel (v7.0). |
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| Adult onset neurodegenerative disorder v5.7 | RAB32 |
Dmitrijs Rots gene: RAB32 was added gene: RAB32 was added to Adult onset neurodegenerative disorder. Sources: Literature Mode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB32 were set to PMID: 38858457 Phenotypes for gene: RAB32 were set to Parkinson’s disease Mode of pathogenicity for gene: RAB32 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: RAB32 was set to GREEN Added comment: The PMID: 38858457 paper describes: "Exome-wide analyses converged on RAB32 as a novel PD gene identifying c.213C > G/p.S71R as a high-risk variant presenting in ~0.7% of familial PD cases while observed in only 0.004% of controls (odds ratio of 65.5). This variant was confirmed in all cases via Sanger sequencing and segregated with PD in three families." + functional data. Enough evidence for the green rating. Sources: Literature |
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| Adult onset neurodegenerative disorder v5.6 | ATXN2_CAG | Sarah Leigh changed review comment from: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090)(PMID: 20740007;21479228;21537950;21562247;21610160).; to: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090), which is an adult onset neurodegenerative disorder (PMID: 20740007;21479228;21537950;21562247;21610160). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.47 | NAA60 | Sarah Leigh Entity copied from White matter disorders and cerebral calcification - narrow panel v3.35 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.47 | NAA60 |
Sarah Leigh gene: NAA60 was added gene: NAA60 was added to Adult onset neurodegenerative disorder. Sources: Literature,Expert Review Amber Q2_24_promote_green, Q2_24_NHS_review tags were added to gene: NAA60. Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAA60 were set to 38480682 Phenotypes for gene: NAA60 were set to NAA60 associated autosomal recessive primary familial brain calcifications |
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| Adult onset neurodegenerative disorder v4.41 | DAO | Ivone Leong Added comment: Comment on list classification: This gene has been demoted from Amber to Red. This gene has been refuted by ClinGen ALS spectrum disorders (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35ac00ac-3279-4c7e-89b6-8a75e3cae414-2022-04-12T103808.867Z?page=1&size=25&search=) (4/12/2022) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.61 | Arina Puzriakova List of related panels changed from Adult onset neurodegenerative disorder; Neurodegenerative disorders - adult onset; R58 to Neurodegenerative disorders - adult onset; R58 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.60 |
Eleanor Williams Panel name changed from Neurodegenerative disorders - adult onset to Adult onset neurodegenerative disorder List of related panels changed from R58; Adult onset neurodegenerative disorder to Adult onset neurodegenerative disorder; Neurodegenerative disorders - adult onset; R58 |
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| 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. |
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| 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. |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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| Adult onset neurodegenerative disorder v3.3 | TTR |
Eleanor Williams gene: TTR was added gene: TTR was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: TTR was set to |
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| Adult onset neurodegenerative disorder v3.3 | LAMB1 |
Eleanor Williams gene: LAMB1 was added gene: LAMB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: LAMB1 was set to |
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| Adult onset neurodegenerative disorder v3.3 | GSN |
Eleanor Williams gene: GSN was added gene: GSN was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GSN was set to |
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| Adult onset neurodegenerative disorder v3.3 | CST3 |
Eleanor Williams gene: CST3 was added gene: CST3 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: CST3 was set to |
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| Adult onset neurodegenerative disorder v3.3 | GLA |
Eleanor Williams gene: GLA was added gene: GLA was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GLA was set to |
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| Adult onset neurodegenerative disorder v3.3 | COL4A2 |
Eleanor Williams gene: COL4A2 was added gene: COL4A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: COL4A2 was set to |
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| Adult onset neurodegenerative disorder v3.3 | COL4A1 |
Eleanor Williams gene: COL4A1 was added gene: COL4A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: COL4A1 was set to |
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| Adult onset neurodegenerative disorder v3.3 | CTSA |
Eleanor Williams gene: CTSA was added gene: CTSA was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: CTSA was set to |
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| 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 v2.277 | 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 |
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| 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 |
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| 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 v2.232 | 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 v2.192 | 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 v2.182 | 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 v2.179 |
Ivone Leong List of related panels changed from R58 to R58; Adult onset neurodegenerative disorder Panel version 2.178 has been signed off on 2021-08-05 |
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| 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 |
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| 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 v2.42 | 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 |
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| Adult onset neurodegenerative disorder v2.39 | TOR1A | Arina Puzriakova Phenotypes for gene: TOR1A were changed from primary torsion dystonia (DYT1), early-onset isolated dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 |
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| 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 |
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| Adult onset neurodegenerative disorder v2.16 | DNAJB2 |
Zornitza Stark gene: DNAJB2 was added gene: DNAJB2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJB2 were set to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 Review for gene: DNAJB2 was set to GREEN Added comment: Young adult onset, progressive neurological disorder, phenotype resembles ALS. Sources: Expert list |
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| Adult onset neurodegenerative disorder v2.16 | DNAJC7 |
Zornitza Stark gene: DNAJC7 was added gene: DNAJC7 was added to Neurodegenerative disorders - adult onset. Sources: Literature Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC7 were set to https://doi.org/10.1212/NXG.0000000000000503 Phenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis Review for gene: DNAJC7 was set to AMBER Added comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. No segregation or functional data. A small number of individuals with LOF variants are present in gnomad albeit less than expected. Given these are cohort studies, and an adult-onset condition, potentially of variable penetrance, we have taken a cautious approach and rated Amber for now but would be interested in other expert opinions. No PMID yet. Sources: Literature |
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| Adult onset neurodegenerative disorder 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 |
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| 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 v1.99 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 v1.75 | 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 |
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| 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 |
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| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 v1.64 | VPS13C |
Louise Daugherty gene: VPS13C was added gene: VPS13C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: VPS13C was set to |
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| Adult onset neurodegenerative disorder v1.64 | DNAJC13 |
Louise Daugherty gene: DNAJC13 was added gene: DNAJC13 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: DNAJC13 was set to |
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| Adult onset neurodegenerative disorder v1.64 | COQ2 |
Louise Daugherty gene: COQ2 was added gene: COQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: COQ2 was set to |
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| Adult onset neurodegenerative disorder v1.64 | TUBA4A |
Louise Daugherty gene: TUBA4A was added gene: TUBA4A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: TUBA4A was set to |
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| Adult onset neurodegenerative disorder v1.64 | TAF15 |
Louise Daugherty gene: TAF15 was added gene: TAF15 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TAF15 was set to |
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| Adult onset neurodegenerative disorder v1.64 | PRPH |
Louise Daugherty gene: PRPH was added gene: PRPH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: PRPH was set to |
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| Adult onset neurodegenerative disorder v1.64 | NEK1 |
Louise Daugherty gene: NEK1 was added gene: NEK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: NEK1 was set to |
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| Adult onset neurodegenerative disorder v1.64 | MATR3 |
Louise Daugherty gene: MATR3 was added gene: MATR3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: MATR3 was set to |
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| Adult onset neurodegenerative disorder v1.64 | HNRNPA2B1 |
Louise Daugherty gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: HNRNPA2B1 was set to |
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| Adult onset neurodegenerative disorder v1.64 | EWSR1 |
Louise Daugherty gene: EWSR1 was added gene: EWSR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: EWSR1 was set to |
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| Adult onset neurodegenerative disorder v1.64 | DAO |
Louise Daugherty gene: DAO was added gene: DAO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DAO was set to |
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| Adult onset neurodegenerative disorder v1.64 | ARHGEF28 |
Louise Daugherty gene: ARHGEF28 was added gene: ARHGEF28 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: ARHGEF28 was set to |
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| Adult onset neurodegenerative disorder v1.64 | ANXA11 |
Louise Daugherty gene: ANXA11 was added gene: ANXA11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ANXA11 was set to |
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| Adult onset neurodegenerative disorder v1.64 | SS18L1 |
Louise Daugherty gene: SS18L1 was added gene: SS18L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SS18L1 was set to |
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| 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 v1.60 | 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 |
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| 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 v1.8 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Adult onset neurodegenerative disorder v1.8 | CCNF |
Louise Daugherty gene: CCNF was added gene: CCNF was added to Neurodegenerative disorders - adult onset. Sources: London North GLH Mode of inheritance for gene: CCNF was set to |
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| Adult onset neurodegenerative disorder v1.6 | COG5 | Anthony Dallosso reviewed gene: COG5: Rating: AMBER; 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 v1.3 | NT5C2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. 'Hereditary spastic paraplegia' is a component panel of 'Neurodegenerative disorders - adult onset'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.121 | SRD5A3 | Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.114 | TWNK | Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.78 | AR_CAG |
Louise Daugherty STR: AR_CAG was added STR: AR_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: AR_CAG. Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200 Added comment: Source PanelApp panels : Amyotrophic lateral sclerosis/motor neuron disease v1.26 Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.76 | ATN1_CAG |
Louise Daugherty STR: ATN1_CAG was added STR: ATN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Brain channelopathy v1.48, Parkinson Disease and Complex Parkinsonism v1.64. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.74 | ATXN10_ATTCT |
Louise Daugherty STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN Added comment: Source PanelApp panels :Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150 Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.72 | ATXN1_CAG |
Louise Daugherty STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN Added comment: Source PanelApp panels :Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Parkinson Disease and Complex Parkinsonism v1.64. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.70 | ATXN2_CAG |
Louise Daugherty STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090 Review for STR: ATXN2_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.65 | ATXN3_CAG |
Louise Daugherty STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150 Review for STR: ATXN3_CAG was set to GREEN Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.63 | CSTB_CCCCGCCCCGCG |
Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: CSTB_CCCCGCCCCGCG. Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN Added comment: Source PanelApp panels : Brain channelopathy v1.48, Hereditary ataxia v1.150. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.61 | FXN_GAA |
Louise Daugherty STR: FXN_GAA was added STR: FXN_GAA was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Hereditary ataxia v1.150 Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.59 | HTT_CAG |
Louise Daugherty STR: HTT_CAG was added STR: HTT_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150 Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.57 | ATXN7_CAG |
Louise Daugherty STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500 Review for STR: ATXN7_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.55 | C9orf72_GGGGCC |
Louise Daugherty STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: C9orf72_GGGGCC. Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 Review for STR: C9orf72_GGGGCC was set to GREEN Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Amyotrophic lateral sclerosis/motor neuron disease v1.26 Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.53 | CACNA1A_CAG |
Louise Daugherty STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: CACNA1A_CAG. Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086 Review for STR: CACNA1A_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Brain channelopathy v1.46, Hereditary spastic paraplegia v1.141. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.51 | JPH3_CTG |
Louise Daugherty STR: JPH3_CTG was added STR: JPH3_CTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: JPH3_CTG. Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438 Review for STR: JPH3_CTG was set to GREEN Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Early onset dystonia v1.76. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.49 | NOP56_GGCCTG |
Louise Daugherty STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153 Review for STR: NOP56_GGCCTG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Amyotrophic lateral sclerosis/motor neuron disease v1.26, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45. Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.38 | PPP2R2B_CAG |
Louise Daugherty STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PPP2R2B_CAG were set to 20301381 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148 Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.36 | TBP_CAG |
Louise Daugherty STR: TBP_CAG was added STR: TBP_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: TBP_CAG. Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TBP_CAG were set to 20301611 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Brain channelopathy v1.46, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45 Sources: Expert list |
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| Adult onset neurodegenerative disorder v0.24 | RAB3GAP2 |
Rebecca Foulger gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB3GAP2 were set to 24482476 Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia |
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| Adult onset neurodegenerative disorder v0.20 | KLC4 |
Rebecca Foulger gene: KLC4 was added gene: KLC4 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLC4 were set to 26423925 Phenotypes for gene: KLC4 were set to spastic paraplegia |
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| Adult onset neurodegenerative disorder v0.18 | KDM5C |
Rebecca Foulger gene: KDM5C was added gene: KDM5C was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: KDM5C 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: KDM5C were set to 10982473; 15586325; 26919706 Phenotypes for gene: KDM5C were set to Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism |
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| Adult onset neurodegenerative disorder v0.16 | HACE1 |
Rebecca Foulger gene: HACE1 was added gene: HACE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26424145; 26437029 Phenotypes for gene: HACE1 were set to Spastic paraplegia; psychomotor retardation; seizure |
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| Adult onset neurodegenerative disorder v0.14 | ERLIN1 |
Rebecca Foulger gene: ERLIN1 was added gene: ERLIN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN1 were set to 24482476 Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia |
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| Adult onset neurodegenerative disorder v0.12 | DARS |
Rebecca Foulger gene: DARS was added gene: DARS was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 23643384; 25527264 Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity |
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| Adult onset neurodegenerative disorder v0.6 | ARG1 |
Rebecca Foulger gene: ARG1 was added gene: ARG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 26310552; 23859858 Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia |
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| Adult onset neurodegenerative disorder v0.4 | ABCD1 |
Rebecca Foulger gene: ABCD1 was added gene: ABCD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: ABCD1 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: ABCD1 were set to 11810273; 27084228; 11739809; 26049658 Phenotypes for gene: ABCD1 were set to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation |
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| Adult onset neurodegenerative disorder v0.2 | ISCA-37478-Loss |
Rebecca Foulger Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation |
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| Adult onset neurodegenerative disorder v0.2 | ISCA-37478-Gain |
Rebecca Foulger Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome |
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| Adult onset neurodegenerative disorder v0.2 | ISCA-37468-Loss |
Rebecca Foulger Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) Publications for Region: ISCA-37468-Loss were set to 23414621; 22365943; 20485326 Phenotypes for Region: ISCA-37468-Loss were set to hypotonia; exiting behavior; autistic features; eleveated serotonin levels; stereotypical hand movements; severe intellectual disability; short stature; episodes of sudden loss of muscle tone; lip-smacking |
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| Adult onset neurodegenerative disorder v0.2 | ISCA-37404-Loss |
Rebecca Foulger Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 7611294; 22045295 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; 105831; Angelman syndrome; Prader-Willi syndrome; Mental retardation |
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| Adult onset neurodegenerative disorder v0.2 | ZNF592 |
Rebecca Foulger gene: ZNF592 was added gene: ZNF592 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5 |
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| Adult onset neurodegenerative disorder v0.2 | ZFYVE27 |
Rebecca Foulger gene: ZFYVE27 was added gene: ZFYVE27 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFYVE27 were set to Mannan AU (2006) Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | ZFYVE26 |
Rebecca Foulger gene: ZFYVE26 was added gene: ZFYVE26 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to PMID:25497598; 25842392; Hanein et al. (2008) Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | ZEB2 |
Rebecca Foulger gene: ZEB2 was added gene: ZEB2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ZEB2 was set to Unknown |
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| Adult onset neurodegenerative disorder v0.2 | YY1 |
Rebecca Foulger gene: YY1 was added gene: YY1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: YY1 were set to 28575647 Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557 |
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| Adult onset neurodegenerative disorder v0.2 | XRCC1 |
Rebecca Foulger gene: XRCC1 was added gene: XRCC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 28002403 Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia |
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| Adult onset neurodegenerative disorder v0.2 | WWOX |
Rebecca Foulger gene: WWOX was added gene: WWOX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322) |
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| Adult onset neurodegenerative disorder v0.2 | WFS1 |
Rebecca Foulger gene: WFS1 was added gene: WFS1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | WDR81 |
Rebecca Foulger gene: WDR81 was added gene: WDR81 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
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| Adult onset neurodegenerative disorder v0.2 | WDR73 |
Rebecca Foulger gene: WDR73 was added gene: WDR73 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome |
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| Adult onset neurodegenerative disorder v0.2 | WDR48 |
Rebecca Foulger gene: WDR48 was added gene: WDR48 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR48 were set to Novarino et al. (2014) |
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| Adult onset neurodegenerative disorder v0.2 | WDR45B |
Rebecca Foulger gene: WDR45B was added gene: WDR45B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR45B were set to 21937992; 28503735 Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. |
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| Adult onset neurodegenerative disorder v0.2 | WDR45 |
Rebecca Foulger gene: WDR45 was added gene: WDR45 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: WDR45 were set to Dystonia; beta-propeller protein-associated neurodegeneration |
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| Adult onset neurodegenerative disorder v0.2 | WASHC5 |
Rebecca Foulger gene: WASHC5 was added gene: WASHC5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WASHC5 were set to Valdmanis et al. (2007) Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | VRK1 |
Rebecca Foulger gene: VRK1 was added gene: VRK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596) |
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| Adult onset neurodegenerative disorder v0.2 | VPS53 |
Rebecca Foulger gene: VPS53 was added gene: VPS53 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744 Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851) |
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| Adult onset neurodegenerative disorder v0.2 | VPS37A |
Rebecca Foulger gene: VPS37A was added gene: VPS37A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012) Phenotypes for gene: VPS37A were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | VPS35 |
Rebecca Foulger gene: VPS35 was added gene: VPS35 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS35 were set to 27777137; 22517097; 23408866; 26547032; 21763482; 22991136; 21763483; 24854799 Phenotypes for gene: VPS35 were set to Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease; PARKINSON DISEASE 17; PARK17 |
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| Adult onset neurodegenerative disorder v0.2 | VPS13D |
Rebecca Foulger gene: VPS13D was added gene: VPS13D was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13D were set to spastic ataxia |
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| Adult onset neurodegenerative disorder v0.2 | VPS13A |
Rebecca Foulger gene: VPS13A was added gene: VPS13A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13A were set to 11381253 Phenotypes for gene: VPS13A were set to complex parkinsonism |
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| Adult onset neurodegenerative disorder v0.2 | VLDLR |
Rebecca Foulger gene: VLDLR was added gene: VLDLR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | VEGFA |
Rebecca Foulger gene: VEGFA was added gene: VEGFA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: VEGFA was set to Unknown |
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| Adult onset neurodegenerative disorder v0.2 | VCP |
Rebecca Foulger gene: VCP was added gene: VCP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VCP were set to 26511028; 25618255; 27178390; 25457024; 23881933; 25492614 Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; familial amyotrophic lateral sclerosis (ALS14); Amyotrophic Lateral Sclerosis, Dominant |
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| Adult onset neurodegenerative disorder v0.2 | VAPB |
Rebecca Foulger gene: VAPB was added gene: VAPB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VAPB were set to Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant |
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| Adult onset neurodegenerative disorder v0.2 | VAMP1 |
Rebecca Foulger gene: VAMP1 was added gene: VAMP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP1 were set to 22958904 Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600 |
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| Adult onset neurodegenerative disorder v0.2 | VAC14 |
Rebecca Foulger gene: VAC14 was added gene: VAC14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054 |
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| Adult onset neurodegenerative disorder v0.2 | USP8 |
Rebecca Foulger gene: USP8 was added gene: USP8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP8 were set to Novarino et al. (2014) |
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| Adult onset neurodegenerative disorder v0.2 | UNC13A |
Rebecca Foulger gene: UNC13A was added gene: UNC13A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: UNC13A was set to Unknown |
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| Adult onset neurodegenerative disorder v0.2 | UCHL1 |
Rebecca Foulger gene: UCHL1 was added gene: UCHL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to PMID: 23359680 Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to} |
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| Adult onset neurodegenerative disorder v0.2 | UBR4 |
Rebecca Foulger gene: UBR4 was added gene: UBR4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBR4 were set to PMID: 23982692 Phenotypes for gene: UBR4 were set to Episodic ataxia |
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| Adult onset neurodegenerative disorder v0.2 | UBQLN2 |
Rebecca Foulger gene: UBQLN2 was added gene: UBQLN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: UBQLN2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: UBQLN2 were set to Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 |
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| Adult onset neurodegenerative disorder v0.2 | TYROBP |
Rebecca Foulger gene: TYROBP was added gene: TYROBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYROBP were set to 15049507 Phenotypes for gene: TYROBP were set to Dementia |
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| Adult onset neurodegenerative disorder v0.2 | TWNK |
Rebecca Foulger gene: TWNK was added gene: TWNK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) |
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| Adult onset neurodegenerative disorder v0.2 | TUBB4A |
Rebecca Foulger gene: TUBB4A was added gene: TUBB4A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to PMID: 25497598; 27809427 Phenotypes for gene: TUBB4A were set to Dystonia; hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101 |
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| Adult onset neurodegenerative disorder v0.2 | TTPA |
Rebecca Foulger gene: TTPA was added gene: TTPA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency; Ataxia with Vitamin E Deficiency |
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| Adult onset neurodegenerative disorder v0.2 | TTC19 |
Rebecca Foulger gene: TTC19 was added gene: TTC19 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157) |
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| Adult onset neurodegenerative disorder v0.2 | TTBK2 |
Rebecca Foulger gene: TTBK2 was added gene: TTBK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11 |
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| Adult onset neurodegenerative disorder v0.2 | TSEN54 |
Rebecca Foulger gene: TSEN54 was added gene: TSEN54 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) |
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| Adult onset neurodegenerative disorder v0.2 | TSEN34 |
Rebecca Foulger gene: TSEN34 was added gene: TSEN34 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia 2C (612390) |
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| Adult onset neurodegenerative disorder v0.2 | TSEN2 |
Rebecca Foulger gene: TSEN2 was added gene: TSEN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389) |
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| Adult onset neurodegenerative disorder v0.2 | TREX1 |
Rebecca Foulger gene: TREX1 was added gene: TREX1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TREX1 was set to Unknown Phenotypes for gene: TREX1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | TREM2 |
Rebecca Foulger gene: TREM2 was added gene: TREM2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TREM2 was set to Unknown Phenotypes for gene: TREM2 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | TPP1 |
Rebecca Foulger gene: TPP1 was added gene: TPP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) |
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| Adult onset neurodegenerative disorder v0.2 | TPK1 |
Rebecca Foulger gene: TPK1 was added gene: TPK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TPK1 was set to Unknown Phenotypes for gene: TPK1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | TOR1A |
Rebecca Foulger gene: TOR1A was added gene: TOR1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOR1A were set to 17503336; 16537570; 11523564; 9288096; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301665 Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | TMEM240 |
Rebecca Foulger gene: TMEM240 was added gene: TMEM240 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21 (#616101) |
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| Adult onset neurodegenerative disorder v0.2 | TIMM8A |
Rebecca Foulger gene: TIMM8A was added gene: TIMM8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TIMM8A was set to Unknown Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome |
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| Adult onset neurodegenerative disorder v0.2 | THAP1 |
Rebecca Foulger gene: THAP1 was added gene: THAP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THAP1 were set to 21793105; http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: THAP1 were set to Dystonia; Dystonia 6, torsion, 602629 |
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| Adult onset neurodegenerative disorder v0.2 | TH |
Rebecca Foulger gene: TH was added gene: TH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: TH were set to infantile parkinsonism; Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia |
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| Adult onset neurodegenerative disorder v0.2 | TGM6 |
Rebecca Foulger gene: TGM6 was added gene: TGM6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35 |
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| Adult onset neurodegenerative disorder v0.2 | TFG |
Rebecca Foulger gene: TFG was added gene: TFG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFG were set to Beetz et al. (2013) |
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| Adult onset neurodegenerative disorder v0.2 | TECPR2 |
Rebecca Foulger gene: TECPR2 was added gene: TECPR2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824; 26542466 Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031 |
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| Adult onset neurodegenerative disorder v0.2 | TDP1 |
Rebecca Foulger gene: TDP1 was added gene: TDP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy |
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| Adult onset neurodegenerative disorder v0.2 | TBP |
Rebecca Foulger gene: TBP was added gene: TBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBP were set to Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600 |
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| Adult onset neurodegenerative disorder v0.2 | TBK1 |
Rebecca Foulger gene: TBK1 was added gene: TBK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBK1 were set to 26350399; 25803835; 26581300; 26476236; 25700176; 27260353 Phenotypes for gene: TBK1 were set to ALS; FTLD |
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| Adult onset neurodegenerative disorder v0.2 | TARDBP |
Rebecca Foulger gene: TARDBP was added gene: TARDBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TARDBP were set to 23881933; 20697052 Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Amyotrophic Lateral Sclerosis, Dominant |
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| Adult onset neurodegenerative disorder v0.2 | TAF1 |
Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TAF1 were set to PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812 Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250 |
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| Adult onset neurodegenerative disorder v0.2 | SYT14 |
Rebecca Foulger gene: SYT14 was added gene: SYT14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229 |
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| Adult onset neurodegenerative disorder v0.2 | SYNJ1 |
Rebecca Foulger gene: SYNJ1 was added gene: SYNJ1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNJ1 were set to 23804577; 23804563; 27435091; 26149920; 27496670 Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset |
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| Adult onset neurodegenerative disorder v0.2 | SYNE1 |
Rebecca Foulger gene: SYNE1 was added gene: SYNE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8 |
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| Adult onset neurodegenerative disorder v0.2 | SUOX |
Rebecca Foulger gene: SUOX was added gene: SUOX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SUOX was set to Unknown Phenotypes for gene: SUOX were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | SUCLA2 |
Rebecca Foulger gene: SUCLA2 was added gene: SUCLA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SUCLA2 was set to Unknown Phenotypes for gene: SUCLA2 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | STUB1 |
Rebecca Foulger gene: STUB1 was added gene: STUB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16 |
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| Adult onset neurodegenerative disorder v0.2 | SRD5A3 |
Rebecca Foulger gene: SRD5A3 was added gene: SRD5A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | SPTBN2 |
Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPTBN2 were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia, autosomal recessive 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia 5 |
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| Adult onset neurodegenerative disorder v0.2 | SPR |
Rebecca Foulger gene: SPR was added gene: SPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443 Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | SPG7 |
Rebecca Foulger gene: SPG7 was added gene: SPG7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to PMID: 25681447; Casari et al (1998) Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | SPG21 |
Rebecca Foulger gene: SPG21 was added gene: SPG21 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG21 were set to Simpson et al. (2003) Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive |
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| Adult onset neurodegenerative disorder v0.2 | SPG11 |
Rebecca Foulger gene: SPG11 was added gene: SPG11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 19224311; 27820618; Stevanin et al. (2007); 21381113 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | SPAST |
Rebecca Foulger gene: SPAST was added gene: SPAST was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to Hazan et al (1999) Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | SPART |
Rebecca Foulger gene: SPART was added gene: SPART was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to Patel et al. (2002 |
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| Adult onset neurodegenerative disorder v0.2 | SOD1 |
Rebecca Foulger gene: SOD1 was added gene: SOD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOD1 were set to 23687121 Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis 1, 105400; amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis, Dominant |
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| Adult onset neurodegenerative disorder v0.2 | SNX14 |
Rebecca Foulger gene: SNX14 was added gene: SNX14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354) |
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| Adult onset neurodegenerative disorder v0.2 | SNCB |
Rebecca Foulger gene: SNCB was added gene: SNCB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SNCB was set to Unknown Phenotypes for gene: SNCB were set to Dementia, Lewy body, 127750 |
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| Adult onset neurodegenerative disorder v0.2 | SNCAIP |
Rebecca Foulger gene: SNCAIP was added gene: SNCAIP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive |
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| Adult onset neurodegenerative disorder v0.2 | SNCA |
Rebecca Foulger gene: SNCA was added gene: SNCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Parkinson disease 4, 605543; Parkinson disease 1, 168601; Dementia, Lewy body, 127750 |
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| Adult onset neurodegenerative disorder v0.2 | SLC9A6 |
Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Adult onset neurodegenerative disorder v0.2 | SLC6A5 |
Rebecca Foulger gene: SLC6A5 was added gene: SLC6A5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A5 were set to 16751771 Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3 |
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| Adult onset neurodegenerative disorder v0.2 | SLC6A3 |
Rebecca Foulger gene: SLC6A3 was added gene: SLC6A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A3 were set to PMID: 24613933 Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 |
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| Adult onset neurodegenerative disorder v0.2 | SLC52A3 |
Rebecca Foulger gene: SLC52A3 was added gene: SLC52A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC52A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 |
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| Adult onset neurodegenerative disorder v0.2 | SLC52A2 |
Rebecca Foulger gene: SLC52A2 was added gene: SLC52A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 |
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| Adult onset neurodegenerative disorder v0.2 | SLC52A1 |
Rebecca Foulger gene: SLC52A1 was added gene: SLC52A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency (condition resembling childhood-onset motor neurone disease) |
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| Adult onset neurodegenerative disorder v0.2 | SLC46A1 |
Rebecca Foulger gene: SLC46A1 was added gene: SLC46A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC46A1 was set to Unknown Phenotypes for gene: SLC46A1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | SLC41A1 |
Rebecca Foulger gene: SLC41A1 was added gene: SLC41A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC41A1 was set to Unknown Publications for gene: SLC41A1 were set to 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632) |
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| Adult onset neurodegenerative disorder v0.2 | SLC39A14 |
Rebecca Foulger gene: SLC39A14 was added gene: SLC39A14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013 |
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| Adult onset neurodegenerative disorder v0.2 | SLC33A1 |
Rebecca Foulger gene: SLC33A1 was added gene: SLC33A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC33A1 were set to Lin et al. (2008) Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant, |
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| Adult onset neurodegenerative disorder v0.2 | SLC30A10 |
Rebecca Foulger gene: SLC30A10 was added gene: SLC30A10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to 25778823; 22341972; 22934317; 22926781; 22341971 Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 |
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| Adult onset neurodegenerative disorder v0.2 | SLC2A1 |
Rebecca Foulger gene: SLC2A1 was added gene: SLC2A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546 |
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| Adult onset neurodegenerative disorder v0.2 | SLC25A46 |
Rebecca Foulger gene: SLC25A46 was added gene: SLC25A46 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 26168012; 28369803 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB 616505 |
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| Adult onset neurodegenerative disorder v0.2 | SLC20A2 |
Rebecca Foulger gene: SLC20A2 was added gene: SLC20A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC20A2 was set to Unknown Phenotypes for gene: SLC20A2 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | SLC1A4 |
Rebecca Foulger gene: SLC1A4 was added gene: SLC1A4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 29989513; 26138499; 27193218; 26041762; 25930971 Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 |
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| Adult onset neurodegenerative disorder v0.2 | SLC1A3 |
Rebecca Foulger gene: SLC1A3 was added gene: SLC1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A3 were set to 16116111; 27829685; 19139306 Phenotypes for gene: SLC1A3 were set to EPISODIC ATAXIA, TYPE 6 |
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| Adult onset neurodegenerative disorder v0.2 | SLC19A3 |
Rebecca Foulger gene: SLC19A3 was added gene: SLC19A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SLC19A3 was set to Unknown Phenotypes for gene: SLC19A3 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | SLC16A2 |
Rebecca Foulger gene: SLC16A2 was added gene: SLC16A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to Friesema et al. (2003) |
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| Adult onset neurodegenerative disorder v0.2 | SIL1 |
Rebecca Foulger gene: SIL1 was added gene: SIL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | SIGMAR1 |
Rebecca Foulger gene: SIGMAR1 was added gene: SIGMAR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIGMAR1 were set to 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 Phenotypes for gene: SIGMAR1 were set to Amyotrophic lateral sclerosis 16, juvenile, 614373 |
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| Adult onset neurodegenerative disorder v0.2 | SGCE |
Rebecca Foulger gene: SGCE was added gene: SGCE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: SGCE were set to 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078 Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900 |
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| Adult onset neurodegenerative disorder v0.2 | SETX |
Rebecca Foulger gene: SETX was added gene: SETX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SETX were set to 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1). Phenotypes for gene: SETX were set to Ataxia-ocular apraxia-2; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia |
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| Adult onset neurodegenerative disorder v0.2 | SERAC1 |
Rebecca Foulger gene: SERAC1 was added gene: SERAC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 22683713; 28778788; 27604308; 16527507; 28482397; 29205472; 27186703 Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 |
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| Adult onset neurodegenerative disorder v0.2 | SEPSECS |
Rebecca Foulger gene: SEPSECS was added gene: SEPSECS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D (613811) |
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| Adult onset neurodegenerative disorder v0.2 | SDHAF1 |
Rebecca Foulger gene: SDHAF1 was added gene: SDHAF1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SDHAF1 was set to Unknown Phenotypes for gene: SDHAF1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | SCP2 |
Rebecca Foulger gene: SCP2 was added gene: SCP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SCP2 was set to Unknown Publications for gene: SCP2 were set to PMID: 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724 |
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| Adult onset neurodegenerative disorder v0.2 | SCN9A |
Rebecca Foulger gene: SCN9A was added gene: SCN9A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Erythermalgia, primary, 133020; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Dysosteosclerosis; Insensitivity to pain, channelopathy-associated, 243000; Hereditary Sensory Neuropathy; Paroxysmal extreme pain disorder, 167400; Febrile seizures, familial, 3B, 613863; Erythermalgia, Primary |
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| Adult onset neurodegenerative disorder v0.2 | SCN8A |
Rebecca Foulger gene: SCN8A was added gene: SCN8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias |
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| Adult onset neurodegenerative disorder v0.2 | SCN1A |
Rebecca Foulger gene: SCN1A was added gene: SCN1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 16054936; 19332696 Phenotypes for gene: SCN1A were set to several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome |
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| Adult onset neurodegenerative disorder v0.2 | SAR1B |
Rebecca Foulger gene: SAR1B was added gene: SAR1B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease 246700 |
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| Adult onset neurodegenerative disorder v0.2 | SAMHD1 |
Rebecca Foulger gene: SAMHD1 was added gene: SAMHD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SAMHD1 was set to Unknown Phenotypes for gene: SAMHD1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | SACS |
Rebecca Foulger gene: SACS was added gene: SACS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type |
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| Adult onset neurodegenerative disorder v0.2 | RUBCN |
Rebecca Foulger gene: RUBCN was added gene: RUBCN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUBCN were set to PMID: 20826435 |
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| Adult onset neurodegenerative disorder v0.2 | RTN2 |
Rebecca Foulger gene: RTN2 was added gene: RTN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RTN2 were set to Montenegro et al. (2012) Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | RNF216 |
Rebecca Foulger gene: RNF216 was added gene: RNF216 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 |
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| Adult onset neurodegenerative disorder v0.2 | RNF170 |
Rebecca Foulger gene: RNF170 was added gene: RNF170 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | RNASEH2C |
Rebecca Foulger gene: RNASEH2C was added gene: RNASEH2C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2C was set to Unknown Phenotypes for gene: RNASEH2C were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | RNASEH2B |
Rebecca Foulger gene: RNASEH2B was added gene: RNASEH2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2B was set to Unknown Phenotypes for gene: RNASEH2B were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | RNASEH2A |
Rebecca Foulger gene: RNASEH2A was added gene: RNASEH2A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2A was set to Unknown Phenotypes for gene: RNASEH2A were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | RELN |
Rebecca Foulger gene: RELN was added gene: RELN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | REEP2 |
Rebecca Foulger gene: REEP2 was added gene: REEP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: REEP2 were set to 24388663 Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625 |
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| Adult onset neurodegenerative disorder v0.2 | REEP1 |
Rebecca Foulger gene: REEP1 was added gene: REEP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REEP1 were set to Zuchner et al. (2006) Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | RARS2 |
Rebecca Foulger gene: RARS2 was added gene: RARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia |
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| Adult onset neurodegenerative disorder v0.2 | RAB39B |
Rebecca Foulger gene: RAB39B was added gene: RAB39B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: RAB39B 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: RAB39B were set to 26399558; 27066548; 27459931; 2639955; 25434005; 27694831 Phenotypes for gene: RAB39B were set to early-onset parkinsonism and intellectual disability; ?Waisman syndrome |
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| Adult onset neurodegenerative disorder v0.2 | QDPR |
Rebecca Foulger gene: QDPR was added gene: QDPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: QDPR was set to Unknown Phenotypes for gene: QDPR were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | PTS |
Rebecca Foulger gene: PTS was added gene: PTS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PTS was set to Unknown Phenotypes for gene: PTS were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | PTEN |
Rebecca Foulger gene: PTEN was added gene: PTEN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PTEN was set to Unknown Phenotypes for gene: PTEN were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | PSEN2 |
Rebecca Foulger gene: PSEN2 was added gene: PSEN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN2 were set to 22503161; 23028126 Phenotypes for gene: PSEN2 were set to Dementia |
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| Adult onset neurodegenerative disorder v0.2 | PSEN1 |
Rebecca Foulger gene: PSEN1 was added gene: PSEN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 22503161; 23028126 Phenotypes for gene: PSEN1 were set to 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; Dementia, frontotemporal, 600274; Pick disease, 172700; Clinical syndrome Alzheimer disease; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694 |
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| Adult onset neurodegenerative disorder v0.2 | PRRT2 |
Rebecca Foulger gene: PRRT2 was added gene: PRRT2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRT2 were set to 22120146; 22399141; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22744660 Phenotypes for gene: PRRT2 were set to Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200 |
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| Adult onset neurodegenerative disorder v0.2 | PRNP |
Rebecca Foulger gene: PRNP was added gene: PRNP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRNP were set to 20583301; 26791950 Phenotypes for gene: PRNP were set to Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial |
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| Adult onset neurodegenerative disorder v0.2 | PRKRA |
Rebecca Foulger gene: PRKRA was added gene: PRKRA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287 Phenotypes for gene: PRKRA were set to Dystonia 16; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease |
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| Adult onset neurodegenerative disorder v0.2 | PRKN |
Rebecca Foulger gene: PRKN was added gene: PRKN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKN were set to PMID: 22956510 Phenotypes for gene: PRKN were set to Parkinson Disease 2, Autosomal Recessive Juvenile; Parkinson Disease, Juvenile |
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| Adult onset neurodegenerative disorder v0.2 | PRKCG |
Rebecca Foulger gene: PRKCG was added gene: PRKCG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14 |
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| Adult onset neurodegenerative disorder v0.2 | PRICKLE1 |
Rebecca Foulger gene: PRICKLE1 was added gene: PRICKLE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia |
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| Adult onset neurodegenerative disorder v0.2 | PPP2R2B |
Rebecca Foulger gene: PPP2R2B was added gene: PPP2R2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PPP2R2B was set to Unknown Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326 |
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| Adult onset neurodegenerative disorder v0.2 | POLR3A |
Rebecca Foulger gene: POLR3A was added gene: POLR3A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 25655951; 21855841 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia |
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| Adult onset neurodegenerative disorder v0.2 | POLG |
Rebecca Foulger gene: POLG was added gene: POLG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) |
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| Adult onset neurodegenerative disorder v0.2 | PNPT1 |
Rebecca Foulger gene: PNPT1 was added gene: PNPT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PNPT1 was set to Unknown Phenotypes for gene: PNPT1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | PNPLA6 |
Rebecca Foulger gene: PNPLA6 was added gene: PNPLA6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to Rainier et al. (2008) Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome (#603197); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients |
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| Adult onset neurodegenerative disorder v0.2 | PNKP |
Rebecca Foulger gene: PNKP was added gene: PNKP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267) |
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| Adult onset neurodegenerative disorder v0.2 | PNKD |
Rebecca Foulger gene: PNKD was added gene: PNKD was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNKD were set to 15262732; 15496428; 15824259; http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
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| Adult onset neurodegenerative disorder v0.2 | PMPCA |
Rebecca Foulger gene: PMPCA was added gene: PMPCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to PMID:25808372 Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. |
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| Adult onset neurodegenerative disorder v0.2 | PLP1 |
Rebecca Foulger gene: PLP1 was added gene: PLP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to Saugier-Veber et al (1994) Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked |
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| Adult onset neurodegenerative disorder v0.2 | PLA2G6 |
Rebecca Foulger gene: PLA2G6 was added gene: PLA2G6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, 612953; Early Onset Complex Disease |
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| Adult onset neurodegenerative disorder v0.2 | PINK1 |
Rebecca Foulger gene: PINK1 was added gene: PINK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PINK1 were set to Parkinson disease 6, early onset Phenotypes for gene: PINK1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | PIK3R5 |
Rebecca Foulger gene: PIK3R5 was added gene: PIK3R5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3 |
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| Adult onset neurodegenerative disorder v0.2 | PGAP1 |
Rebecca Foulger gene: PGAP1 was added gene: PGAP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP1 were set to Novarino et al. (2014) |
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| Adult onset neurodegenerative disorder v0.2 | PFN1 |
Rebecca Foulger gene: PFN1 was added gene: PFN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PFN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PFN1 were set to Amyotrophic lateral sclerosis 18, 614808 |
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| Adult onset neurodegenerative disorder v0.2 | PEX16 |
Rebecca Foulger gene: PEX16 was added gene: PEX16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis |
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| Adult onset neurodegenerative disorder v0.2 | PDYN |
Rebecca Foulger gene: PDYN was added gene: PDYN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23 |
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| Adult onset neurodegenerative disorder v0.2 | PDHX |
Rebecca Foulger gene: PDHX was added gene: PDHX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PDHX was set to Unknown Phenotypes for gene: PDHX were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | PDGFRB |
Rebecca Foulger gene: PDGFRB was added gene: PDGFRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PDGFRB was set to Unknown Phenotypes for gene: PDGFRB were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | PCLO |
Rebecca Foulger gene: PCLO was added gene: PCLO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCLO were set to PMID: 25832664 Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. |
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| Adult onset neurodegenerative disorder v0.2 | PCDH12 |
Rebecca Foulger gene: PCDH12 was added gene: PCDH12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities |
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| Adult onset neurodegenerative disorder v0.2 | PAX6 |
Rebecca Foulger gene: PAX6 was added gene: PAX6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation |
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| Adult onset neurodegenerative disorder v0.2 | PAX2 |
Rebecca Foulger gene: PAX2 was added gene: PAX2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PAX2 was set to Unknown Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2) |
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| Adult onset neurodegenerative disorder v0.2 | PARK7 |
Rebecca Foulger gene: PARK7 was added gene: PARK7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PARK7 were set to Parkinson disease 7 autosomal recessive early-onset; 606324 |
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| Adult onset neurodegenerative disorder v0.2 | PANK2 |
Rebecca Foulger gene: PANK2 was added gene: PANK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Dystonia; pantothenate kinase-associated neurodegeneration |
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| Adult onset neurodegenerative disorder v0.2 | OPTN |
Rebecca Foulger gene: OPTN was added gene: OPTN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: OPTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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. Phenotypes for gene: OPTN were set to Glaucoma 1, open angle, E, 137760; Amyotrophic Lateral Sclerosis, Recessive |
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| Adult onset neurodegenerative disorder v0.2 | OPHN1 |
Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Adult onset neurodegenerative disorder v0.2 | OPA3 |
Rebecca Foulger gene: OPA3 was added gene: OPA3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 25657044; 11668429; 20301646; 24944951 Phenotypes for gene: OPA3 were set to Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501 |
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| Adult onset neurodegenerative disorder v0.2 | NT5C2 |
Rebecca Foulger gene: NT5C2 was added gene: NT5C2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C2 were set to 28884889; 24482476; 29123918; 28327087 Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162 |
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| Adult onset neurodegenerative disorder v0.2 | NR4A2 |
Rebecca Foulger gene: NR4A2 was added gene: NR4A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NR4A2 were set to 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to) |
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| Adult onset neurodegenerative disorder v0.2 | NPC2 |
Rebecca Foulger gene: NPC2 was added gene: NPC2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625) |
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| Adult onset neurodegenerative disorder v0.2 | NPC1 |
Rebecca Foulger gene: NPC1 was added gene: NPC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220) |
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| Adult onset neurodegenerative disorder v0.2 | NOTCH3 |
Rebecca Foulger gene: NOTCH3 was added gene: NOTCH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH3 were set to Dementia |
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| Adult onset neurodegenerative disorder v0.2 | NOP56 |
Rebecca Foulger gene: NOP56 was added gene: NOP56 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153 |
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| Adult onset neurodegenerative disorder v0.2 | NKX6-2 |
Rebecca Foulger gene: NKX6-2 was added gene: NKX6-2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 15601927; 28575651 Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 |
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| Adult onset neurodegenerative disorder v0.2 | NKX2-1 |
Rebecca Foulger gene: NKX2-1 was added gene: NKX2-1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 24555207 Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 |
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| Adult onset neurodegenerative disorder v0.2 | NIPA1 |
Rebecca Foulger gene: NIPA1 was added gene: NIPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPA1 were set to Rainier et al. (2003) Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6, autosomal dominant; Spasticparaplegia6,autosomaldominant,600363 |
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| Adult onset neurodegenerative disorder v0.2 | NHLRC1 |
Rebecca Foulger gene: NHLRC1 was added gene: NHLRC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC1 were set to 12958597; 15781812 Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780 |
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| Adult onset neurodegenerative disorder v0.2 | NEFH |
Rebecca Foulger gene: NEFH was added gene: NEFH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEFH were set to PMID: 24488689 Phenotypes for gene: NEFH were set to susceptibility to amyotrophic lateral sclerosis (ALS) |
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| Adult onset neurodegenerative disorder v0.2 | NDUFA12 |
Rebecca Foulger gene: NDUFA12 was added gene: NDUFA12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 21617257 Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency 256000 |
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| Adult onset neurodegenerative disorder v0.2 | NAGLU |
Rebecca Foulger gene: NAGLU was added gene: NAGLU was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to PMID: 25818867 Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) |
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| Adult onset neurodegenerative disorder v0.2 | MVK |
Rebecca Foulger gene: MVK was added gene: MVK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 24896178; 26503795 Phenotypes for gene: MVK were set to Mevalonic aciduria 610377 |
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| Adult onset neurodegenerative disorder v0.2 | MTTP |
Rebecca Foulger gene: MTTP was added gene: MTTP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 |
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| Adult onset neurodegenerative disorder v0.2 | MTPAP |
Rebecca Foulger gene: MTPAP was added gene: MTPAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | MT-ND6 |
Rebecca Foulger gene: MT-ND6 was added gene: MT-ND6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | MT-ATP6 |
Rebecca Foulger gene: MT-ATP6 was added gene: MT-ATP6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa |
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| Adult onset neurodegenerative disorder v0.2 | MRE11 |
Rebecca Foulger gene: MRE11 was added gene: MRE11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder; Ataxia-Telangiectasia-Like Disorder |
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| Adult onset neurodegenerative disorder v0.2 | MR1 |
Rebecca Foulger gene: MR1 was added gene: MR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MR1 were set to Dystonia; Paroxysmal/Episodic dystonia |
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| Adult onset neurodegenerative disorder v0.2 | MPV17 |
Rebecca Foulger gene: MPV17 was added gene: MPV17 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MPV17 was set to Unknown Phenotypes for gene: MPV17 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | MMADHC |
Rebecca Foulger gene: MMADHC was added gene: MMADHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MMADHC was set to Unknown Phenotypes for gene: MMADHC were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | MMACHC |
Rebecca Foulger gene: MMACHC was added gene: MMACHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to PMID: 26283149 Phenotypes for gene: MMACHC were set to Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) |
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| Adult onset neurodegenerative disorder v0.2 | MECR |
Rebecca Foulger gene: MECR was added gene: MECR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 |
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| Adult onset neurodegenerative disorder v0.2 | MCOLN1 |
Rebecca Foulger gene: MCOLN1 was added gene: MCOLN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MCOLN1 was set to Unknown Phenotypes for gene: MCOLN1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | MAT1A |
Rebecca Foulger gene: MAT1A was added gene: MAT1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MAT1A was set to Unknown Phenotypes for gene: MAT1A were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | MARS2 |
Rebecca Foulger gene: MARS2 was added gene: MARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to PubMed: 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | MARS |
Rebecca Foulger gene: MARS was added gene: MARS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to Novarino et al. (2014) |
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| Adult onset neurodegenerative disorder v0.2 | MAPT |
Rebecca Foulger gene: MAPT was added gene: MAPT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPT were set to 20301678; 28334843 Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism, 600274; Clinical syndrome FTLD (Frontotemporal lobar degeneration) |
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| Adult onset neurodegenerative disorder v0.2 | MAG |
Rebecca Foulger gene: MAG was added gene: MAG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 24482476; 26179919 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680 |
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| Adult onset neurodegenerative disorder v0.2 | LYST |
Rebecca Foulger gene: LYST was added gene: LYST was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679 Phenotypes for gene: LYST were set to Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism |
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| Adult onset neurodegenerative disorder v0.2 | LRRK2 |
Rebecca Foulger gene: LRRK2 was added gene: LRRK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRRK2 were set to 28395804; 28395803; 25391693; 27090875; 28395805; 28395802 Phenotypes for gene: LRRK2 were set to 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 |
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| Adult onset neurodegenerative disorder v0.2 | L2HGDH |
Rebecca Foulger gene: L2HGDH was added gene: L2HGDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: L2HGDH was set to Unknown Phenotypes for gene: L2HGDH were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | L1CAM |
Rebecca Foulger gene: L1CAM was added gene: L1CAM was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to PMID: 7920659 Phenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia |
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| Adult onset neurodegenerative disorder v0.2 | KMT2B |
Rebecca Foulger gene: KMT2B was added gene: KMT2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2B were set to 27992417 Phenotypes for gene: KMT2B were set to early-onset dystonia |
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| Adult onset neurodegenerative disorder v0.2 | KIF5A |
Rebecca Foulger gene: KIF5A was added gene: KIF5A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to Reid et al. (2002) Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | KIF1C |
Rebecca Foulger gene: KIF1C was added gene: KIF1C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1C were set to 24482476; 17273843; 24319291 Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | KIF1A |
Rebecca Foulger gene: KIF1A was added gene: KIF1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1A were set to Erlich et al. (2011) Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | KIDINS220 |
Rebecca Foulger gene: KIDINS220 was added gene: KIDINS220 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 |
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| Adult onset neurodegenerative disorder v0.2 | KCNQ3 |
Rebecca Foulger gene: KCNQ3 was added gene: KCNQ3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201 |
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| Adult onset neurodegenerative disorder v0.2 | KCNQ2 |
Rebecca Foulger gene: KCNQ2 was added gene: KCNQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ2 were set to Myokymia, 121200 |
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| Adult onset neurodegenerative disorder v0.2 | KCNK18 |
Rebecca Foulger gene: KCNK18 was added gene: KCNK18 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: KCNK18 was set to Unknown Publications for gene: KCNK18 were set to 22355750; 20871611 Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 |
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| Adult onset neurodegenerative disorder v0.2 | KCNJ10 |
Rebecca Foulger gene: KCNJ10 was added gene: KCNJ10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome |
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| Adult onset neurodegenerative disorder v0.2 | KCND3 |
Rebecca Foulger gene: KCND3 was added gene: KCND3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19,607346 |
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| Adult onset neurodegenerative disorder v0.2 | KCNC3 |
Rebecca Foulger gene: KCNC3 was added gene: KCNC3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 |
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| Adult onset neurodegenerative disorder v0.2 | KCNA1 |
Rebecca Foulger gene: KCNA1 was added gene: KCNA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA1 were set to 17575281 Phenotypes for gene: KCNA1 were set to myokymia with periodic ataxia; EPISODIC ATAXIA, TYPE 1 |
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| Adult onset neurodegenerative disorder v0.2 | JPH3 |
Rebecca Foulger gene: JPH3 was added gene: JPH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JPH3 were set to Huntington disease-like 2 606438 |
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| Adult onset neurodegenerative disorder v0.2 | ITPR1 |
Rebecca Foulger gene: ITPR1 was added gene: ITPR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 29; Spinocerebellar ataxia 15 |
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| Adult onset neurodegenerative disorder v0.2 | ITM2B |
Rebecca Foulger gene: ITM2B was added gene: ITM2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ITM2B were set to Dementia, familial British, 176500 |
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| Adult onset neurodegenerative disorder v0.2 | IPPK |
Rebecca Foulger gene: IPPK was added gene: IPPK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IPPK were set to Early Onset Complex Disease |
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| Adult onset neurodegenerative disorder v0.2 | IBA57 |
Rebecca Foulger gene: IBA57 was added gene: IBA57 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 25609768; 30258207 Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451 |
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| Adult onset neurodegenerative disorder v0.2 | HTT |
Rebecca Foulger gene: HTT was added gene: HTT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HTT were set to Huntington disease 143100 |
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| Adult onset neurodegenerative disorder v0.2 | HTRA2 |
Rebecca Foulger gene: HTRA2 was added gene: HTRA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HTRA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 15961413; 27696117; 23462481; 18364387; 27208207; 18401856 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248 |
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| Adult onset neurodegenerative disorder v0.2 | HTRA1 |
Rebecca Foulger gene: HTRA1 was added gene: HTRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HTRA1 was set to Unknown Phenotypes for gene: HTRA1 were set to Dementia |
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| Adult onset neurodegenerative disorder v0.2 | HSPD1 |
Rebecca Foulger gene: HSPD1 was added gene: HSPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPD1 were set to Hansen et al. (2002) Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | HPRT1 |
Rebecca Foulger gene: HPRT1 was added gene: HPRT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HPRT1 was set to Unknown Phenotypes for gene: HPRT1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | HPCA |
Rebecca Foulger gene: HPCA was added gene: HPCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPCA were set to 30145809; 25799108 Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; adolescence-onset segmental dystonia; childhood-onset generalized dystonia |
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| Adult onset neurodegenerative disorder v0.2 | HNRNPA1 |
Rebecca Foulger gene: HNRNPA1 was added gene: HNRNPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal |
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| Adult onset neurodegenerative disorder v0.2 | HFE |
Rebecca Foulger gene: HFE was added gene: HFE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HFE was set to Unknown |
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| Adult onset neurodegenerative disorder v0.2 | HEXB |
Rebecca Foulger gene: HEXB was added gene: HEXB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | HEXA |
Rebecca Foulger gene: HEXA was added gene: HEXA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | GRN |
Rebecca Foulger gene: GRN was added gene: GRN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRN were set to 20301545; 17923627 Phenotypes for gene: GRN were set to Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration) |
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| Adult onset neurodegenerative disorder v0.2 | GRM1 |
Rebecca Foulger gene: GRM1 was added gene: GRM1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13 |
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| Adult onset neurodegenerative disorder v0.2 | GRID2 |
Rebecca Foulger gene: GRID2 was added gene: GRID2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRID2 were set to PMID: 25841024 Phenotypes for gene: GRID2 were set to Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204) |
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| Adult onset neurodegenerative disorder v0.2 | GPAA1 |
Rebecca Foulger gene: GPAA1 was added gene: GPAA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095; 24896178 Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 |
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| Adult onset neurodegenerative disorder v0.2 | GOSR2 |
Rebecca Foulger gene: GOSR2 was added gene: GOSR2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOSR2 were set to 24285620; 21549339; 20301317 Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 |
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| Adult onset neurodegenerative disorder v0.2 | GNAO1 |
Rebecca Foulger gene: GNAO1 was added gene: GNAO1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAO1 were set to 25966631; 27068059; 27625011; 28357411; 26060304 Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493 |
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| Adult onset neurodegenerative disorder v0.2 | GNAL |
Rebecca Foulger gene: GNAL was added gene: GNAL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAL were set to 25847575; 24729450; 24535567; 24408567; 26365774; 26810727; 27093447; 27123488; 23222958; 26506956; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23449625; 23759320; 25382112; 24151159; 26725140 Phenotypes for gene: GNAL were set to Dystonia 25, 615073 |
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| Adult onset neurodegenerative disorder v0.2 | GLRB |
Rebecca Foulger gene: GLRB was added gene: GLRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRB were set to 23238346; 11929858; 21391991 Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2 |
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| Adult onset neurodegenerative disorder v0.2 | GLRA1 |
Rebecca Foulger gene: GLRA1 was added gene: GLRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 20301437 Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1 |
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| Adult onset neurodegenerative disorder v0.2 | GJC2 |
Rebecca Foulger gene: GJC2 was added gene: GJC2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009) Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia |
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| Adult onset neurodegenerative disorder v0.2 | GIGYF2 |
Rebecca Foulger gene: GIGYF2 was added gene: GIGYF2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GIGYF2 was set to Unknown Publications for gene: GIGYF2 were set to 20044296; 26134514; 18923002; 19279319; 19250854; 19321232; 20060621; 19449032; 201788319; 18358451; 19429085; 20685231; 19482505 Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688 |
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| Adult onset neurodegenerative disorder v0.2 | GFAP |
Rebecca Foulger gene: GFAP was added gene: GFAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GFAP were set to Autosomal Dominant Ataxia; Alexander disease |
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| Adult onset neurodegenerative disorder v0.2 | GCH1 |
Rebecca Foulger gene: GCH1 was added gene: GCH1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD) |
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| Adult onset neurodegenerative disorder v0.2 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GCDH was set to Unknown Phenotypes for gene: GCDH were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | GBA2 |
Rebecca Foulger gene: GBA2 was added gene: GBA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to Martin et al. (2013) Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | GBA |
Rebecca Foulger gene: GBA was added gene: GBA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GBA were set to 29400127; 27779773; 27632223; 27648471; 27717005 Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600 |
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| Adult onset neurodegenerative disorder v0.2 | GAMT |
Rebecca Foulger gene: GAMT was added gene: GAMT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GAMT was set to Unknown Phenotypes for gene: GAMT were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | GAD1 |
Rebecca Foulger gene: GAD1 was added gene: GAD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GAD1 was set to Unknown Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513 |
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| Adult onset neurodegenerative disorder v0.2 | FXN |
Rebecca Foulger gene: FXN was added gene: FXN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300 |
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| Adult onset neurodegenerative disorder v0.2 | FUS |
Rebecca Foulger gene: FUS was added gene: FUS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FUS were set to Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal; Amyotrophic Lateral Sclerosis, Dominant |
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| Adult onset neurodegenerative disorder v0.2 | FTL |
Rebecca Foulger gene: FTL was added gene: FTL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTL were set to 24209436; http://www.ncbi.nlm.nih.gov/pubmed/24209436 Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3; movement disorder |
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| Adult onset neurodegenerative disorder v0.2 | FOXRED1 |
Rebecca Foulger gene: FOXRED1 was added gene: FOXRED1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: FOXRED1 was set to Unknown Phenotypes for gene: FOXRED1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | FOXG1 |
Rebecca Foulger gene: FOXG1 was added gene: FOXG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: FOXG1 was set to Unknown Phenotypes for gene: FOXG1 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | FOLR1 |
Rebecca Foulger gene: FOLR1 was added gene: FOLR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | FMR1 |
Rebecca Foulger gene: FMR1 was added gene: FMR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to 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 |
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| Adult onset neurodegenerative disorder v0.2 | FLVCR1 |
Rebecca Foulger gene: FLVCR1 was added gene: FLVCR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa, |
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| Adult onset neurodegenerative disorder v0.2 | FIG4 |
Rebecca Foulger gene: FIG4 was added gene: FIG4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FIG4 were set to PMID: 19118816 Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic Lateral Sclerosis, Dominant |
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| Adult onset neurodegenerative disorder v0.2 | FGF14 |
Rebecca Foulger gene: FGF14 was added gene: FGF14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 |
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| Adult onset neurodegenerative disorder v0.2 | FBXO7 |
Rebecca Foulger gene: FBXO7 was added gene: FBXO7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXO7 were set to Dystonia; juvenile parkinsonism |
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| Adult onset neurodegenerative disorder v0.2 | FASTKD2 |
Rebecca Foulger gene: FASTKD2 was added gene: FASTKD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: FASTKD2 was set to Unknown Phenotypes for gene: FASTKD2 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | FARS2 |
Rebecca Foulger gene: FARS2 was added gene: FARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 26553276; 29126765; 30250868; 25851414 Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046 |
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| Adult onset neurodegenerative disorder v0.2 | FA2H |
Rebecca Foulger gene: FA2H was added gene: FA2H was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to Edvardson et al. (2008) Phenotypes for gene: FA2H were set to Dystonia; fatty acid hydroxylase-associated neurodegeneration |
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| Adult onset neurodegenerative disorder v0.2 | EXOSC3 |
Rebecca Foulger gene: EXOSC3 was added gene: EXOSC3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | ERLIN2 |
Rebecca Foulger gene: ERLIN2 was added gene: ERLIN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 21796390; 21330303; 23085305; 27824013; 25977983; 29528531; 23897027; 23109142; 28832565; 22554690; 23109145 Phenotypes for gene: ERLIN2 were set to neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | ERCC6 |
Rebecca Foulger gene: ERCC6 was added gene: ERCC6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ERCC6 was set to Unknown Phenotypes for gene: ERCC6 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | ERBB4 |
Rebecca Foulger gene: ERBB4 was added gene: ERBB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19, 615515 |
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| Adult onset neurodegenerative disorder v0.2 | EPM2A |
Rebecca Foulger gene: EPM2A was added gene: EPM2A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308; 10932264; 14722920 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
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| Adult onset neurodegenerative disorder v0.2 | ENTPD1 |
Rebecca Foulger gene: ENTPD1 was added gene: ENTPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to Novarino et al. (2014) Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683 |
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| Adult onset neurodegenerative disorder v0.2 | ELOVL5 |
Rebecca Foulger gene: ELOVL5 was added gene: ELOVL5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 (#615957) |
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| Adult onset neurodegenerative disorder v0.2 | ELOVL4 |
Rebecca Foulger gene: ELOVL4 was added gene: ELOVL4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELOVL4 were set to 24566826; 26010696 Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190 |
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| Adult onset neurodegenerative disorder v0.2 | EIF4G1 |
Rebecca Foulger gene: EIF4G1 was added gene: EIF4G1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: EIF4G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EIF4G1 were set to Parkinsons disease 18, 614251 |
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| Adult onset neurodegenerative disorder v0.2 | EIF2B5 |
Rebecca Foulger gene: EIF2B5 was added gene: EIF2B5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Adult onset neurodegenerative disorder v0.2 | EIF2B4 |
Rebecca Foulger gene: EIF2B4 was added gene: EIF2B4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Adult onset neurodegenerative disorder v0.2 | EIF2B3 |
Rebecca Foulger gene: EIF2B3 was added gene: EIF2B3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Adult onset neurodegenerative disorder v0.2 | EIF2B2 |
Rebecca Foulger gene: EIF2B2 was added gene: EIF2B2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Adult onset neurodegenerative disorder v0.2 | EIF2B1 |
Rebecca Foulger gene: EIF2B1 was added gene: EIF2B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
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| Adult onset neurodegenerative disorder v0.2 | EARS2 |
Rebecca Foulger gene: EARS2 was added gene: EARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: EARS2 was set to Unknown Phenotypes for gene: EARS2 were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | DYNC1H1 |
Rebecca Foulger gene: DYNC1H1 was added gene: DYNC1H1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability |
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| Adult onset neurodegenerative disorder v0.2 | DSTYK |
Rebecca Foulger gene: DSTYK was added gene: DSTYK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSTYK were set to 28157540 Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 |
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| Adult onset neurodegenerative disorder v0.2 | DRD5 |
Rebecca Foulger gene: DRD5 was added gene: DRD5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DRD5 was set to Unknown Publications for gene: DRD5 were set to PMID: 17133500 Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798 |
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| Adult onset neurodegenerative disorder v0.2 | DRD2 |
Rebecca Foulger gene: DRD2 was added gene: DRD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DRD2 was set to Unknown Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/ Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900 |
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| Adult onset neurodegenerative disorder v0.2 | DNMT1 |
Rebecca Foulger gene: DNMT1 was added gene: DNMT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNMT1 were set to 23365052 Phenotypes for gene: DNMT1 were set to Dementia, Deafness, and Sensory Neuropathy |
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| Adult onset neurodegenerative disorder v0.2 | DNAJC6 |
Rebecca Foulger gene: DNAJC6 was added gene: DNAJC6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC6 were set to 22563501; 26528954; 23211418; 26703368; 27687717 Phenotypes for gene: DNAJC6 were set to Parkinson disease 19b, early-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19a, juvenile-onset |
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| Adult onset neurodegenerative disorder v0.2 | DNAJC5 |
Rebecca Foulger gene: DNAJC5 was added gene: DNAJC5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099 Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 |
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| Adult onset neurodegenerative disorder v0.2 | DNAJC19 |
Rebecca Foulger gene: DNAJC19 was added gene: DNAJC19 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778 Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome |
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| Adult onset neurodegenerative disorder v0.2 | DMXL2 |
Rebecca Foulger gene: DMXL2 was added gene: DMXL2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680 Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; ORPHA90636; OMIM:612186 |
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| Adult onset neurodegenerative disorder v0.2 | DLAT |
Rebecca Foulger gene: DLAT was added gene: DLAT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DLAT was set to Unknown Phenotypes for gene: DLAT were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | DDHD2 |
Rebecca Foulger gene: DDHD2 was added gene: DDHD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012) Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | DDHD1 |
Rebecca Foulger gene: DDHD1 was added gene: DDHD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to Tesson et al. (2012) Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | DDC |
Rebecca Foulger gene: DDC was added gene: DDC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DDC was set to Unknown Phenotypes for gene: DDC were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | DCTN1 |
Rebecca Foulger gene: DCTN1 was added gene: DCTN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764 Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB, 607641; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400 |
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| Adult onset neurodegenerative disorder v0.2 | DCAF17 |
Rebecca Foulger gene: DCAF17 was added gene: DCAF17 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF17 were set to Dystonia; Woodhouse-Sakati syndrome |
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| Adult onset neurodegenerative disorder v0.2 | DARS2 |
Rebecca Foulger gene: DARS2 was added gene: DARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | DAB1 |
Rebecca Foulger gene: DAB1 was added gene: DAB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAB1 were set to 28686858 Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 615945 |
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| Adult onset neurodegenerative disorder v0.2 | CYP7B1 |
Rebecca Foulger gene: CYP7B1 was added gene: CYP7B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | CYP2U1 |
Rebecca Foulger gene: CYP2U1 was added gene: CYP2U1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to Tesson et al. (2012) Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. |
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| Adult onset neurodegenerative disorder v0.2 | CYP27A1 |
Rebecca Foulger gene: CYP27A1 was added gene: CYP27A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | CWF19L1 |
Rebecca Foulger gene: CWF19L1 was added gene: CWF19L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | CSTB |
Rebecca Foulger gene: CSTB was added gene: CSTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 26843564 Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A, 254800; microcephaly and severe dyskinesia (26843564) |
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| Adult onset neurodegenerative disorder v0.2 | CSF1R |
Rebecca Foulger gene: CSF1R was added gene: CSF1R was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF1R were set to 23787135 Phenotypes for gene: CSF1R were set to Dementia |
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| Adult onset neurodegenerative disorder v0.2 | CP |
Rebecca Foulger gene: CP was added gene: CP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Dystonia; Aceruloplasminemia |
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| Adult onset neurodegenerative disorder v0.2 | COX20 |
Rebecca Foulger gene: COX20 was added gene: COX20 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.2 | COQ8A |
Rebecca Foulger gene: COQ8A was added gene: COQ8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
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| Adult onset neurodegenerative disorder v0.2 | COG5 |
Rebecca Foulger gene: COG5 was added gene: COG5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG5 were set to 19690088; 28960046 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612 |
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| Adult onset neurodegenerative disorder v0.2 | COASY |
Rebecca Foulger gene: COASY was added gene: COASY was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 27021474 Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 |
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| Adult onset neurodegenerative disorder v0.2 | CLP1 |
Rebecca Foulger gene: CLP1 was added gene: CLP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803) |
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| Adult onset neurodegenerative disorder v0.2 | CLN6 |
Rebecca Foulger gene: CLN6 was added gene: CLN6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) |
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| Adult onset neurodegenerative disorder v0.2 | CLCN2 |
Rebecca Foulger gene: CLCN2 was added gene: CLCN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 19191339; 23707145 Phenotypes for gene: CLCN2 were set to {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 |
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| Adult onset neurodegenerative disorder v0.2 | CIZ1 |
Rebecca Foulger gene: CIZ1 was added gene: CIZ1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: CIZ1 was set to Unknown Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860 |
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| Adult onset neurodegenerative disorder v0.2 | CHMP2B |
Rebecca Foulger gene: CHMP2B was added gene: CHMP2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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. Phenotypes for gene: CHMP2B were set to Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696; Frontotemporal Dementia |
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| Adult onset neurodegenerative disorder v0.2 | CHMP1A |
Rebecca Foulger gene: CHMP1A was added gene: CHMP1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961) |
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| Adult onset neurodegenerative disorder v0.2 | CHCHD2 |
Rebecca Foulger gene: CHCHD2 was added gene: CHCHD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to 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 Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant; 616710 |
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| Adult onset neurodegenerative disorder v0.2 | CHCHD10 |
Rebecca Foulger gene: CHCHD10 was added gene: CHCHD10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CHCHD10 was set to Unknown Phenotypes for gene: CHCHD10 were set to ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 |
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| Adult onset neurodegenerative disorder v0.2 | CDK16 |
Rebecca Foulger gene: CDK16 was added gene: CDK16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CDK16 were set to 26350204; 25644381 Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia |
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| Adult onset neurodegenerative disorder v0.2 | CCT5 |
Rebecca Foulger gene: CCT5 was added gene: CCT5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia |
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| Adult onset neurodegenerative disorder v0.2 | CCDC88C |
Rebecca Foulger gene: CCDC88C was added gene: CCDC88C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC88C were set to PMID: 25062847 Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia |
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| Adult onset neurodegenerative disorder v0.2 | CASK |
Rebecca Foulger gene: CASK was added gene: CASK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Adult onset neurodegenerative disorder v0.2 | CAPN1 |
Rebecca Foulger gene: CAPN1 was added gene: CAPN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive 616907 |
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| Adult onset neurodegenerative disorder v0.2 | CAMTA1 |
Rebecca Foulger gene: CAMTA1 was added gene: CAMTA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 |
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| Adult onset neurodegenerative disorder v0.2 | CACNB4 |
Rebecca Foulger gene: CACNB4 was added gene: CACNB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNB4 were set to 10762541; PMC1378014 Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5 |
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| Adult onset neurodegenerative disorder v0.2 | CACNA1G |
Rebecca Foulger gene: CACNA1G was added gene: CACNA1G was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Adult onset neurodegenerative disorder v0.2 | CACNA1A |
Rebecca Foulger gene: CACNA1A was added gene: CACNA1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 21734179; 17575281 Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6; Episodic ataxia, type 2 |
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| Adult onset neurodegenerative disorder v0.2 | CA8 |
Rebecca Foulger gene: CA8 was added gene: CA8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 |
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| Adult onset neurodegenerative disorder v0.2 | C9orf72 |
Rebecca Foulger gene: C9orf72 was added gene: C9orf72 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 Phenotypes for gene: C9orf72 were set to clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism; (Hexanucleotideexpansion) |
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| Adult onset neurodegenerative disorder v0.2 | C19orf12 |
Rebecca Foulger gene: C19orf12 was added gene: C19orf12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to Landoure (2013) Phenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 4 |
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| Adult onset neurodegenerative disorder v0.2 | C12orf65 |
Rebecca Foulger gene: C12orf65 was added gene: C12orf65 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf65 were set to Shimazaki et al. (2012) Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035 |
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| Adult onset neurodegenerative disorder v0.2 | BSCL2 |
Rebecca Foulger gene: BSCL2 was added gene: BSCL2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BSCL2 were set to Windpassinger et al. (2004) Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome, |
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| Adult onset neurodegenerative disorder v0.2 | BEAN1 |
Rebecca Foulger gene: BEAN1 was added gene: BEAN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BEAN1 were set to 19878914 Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210 |
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| Adult onset neurodegenerative disorder v0.2 | BCAP31 |
Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: BCAP31 was set to Unknown Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475 |
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| Adult onset neurodegenerative disorder v0.2 | B4GALNT1 |
Rebecca Foulger gene: B4GALNT1 was added gene: B4GALNT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to Boukhris et al. (2013) Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | AUH |
Rebecca Foulger gene: AUH was added gene: AUH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: AUH was set to Unknown Phenotypes for gene: AUH were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | ATXN8 |
Rebecca Foulger gene: ATXN8 was added gene: ATXN8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN8 were set to 10192387 Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768 |
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| Adult onset neurodegenerative disorder v0.2 | ATXN7 |
Rebecca Foulger gene: ATXN7 was added gene: ATXN7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN7 was set to Unknown Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia7,164500 |
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| Adult onset neurodegenerative disorder v0.2 | ATXN3 |
Rebecca Foulger gene: ATXN3 was added gene: ATXN3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Adult onset neurodegenerative disorder v0.2 | ATXN2 |
Rebecca Foulger gene: ATXN2 was added gene: ATXN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN2 were set to 24488689 Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 |
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| Adult onset neurodegenerative disorder v0.2 | ATXN10 |
Rebecca Foulger gene: ATXN10 was added gene: ATXN10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN10 was set to Unknown Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10,603516 |
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| Adult onset neurodegenerative disorder v0.2 | ATXN1 |
Rebecca Foulger gene: ATXN1 was added gene: ATXN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN1 was set to Unknown Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400 |
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| Adult onset neurodegenerative disorder v0.2 | ATP8A2 |
Rebecca Foulger gene: ATP8A2 was added gene: ATP8A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to PMID: 22892528 |
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| Adult onset neurodegenerative disorder v0.2 | ATP7B |
Rebecca Foulger gene: ATP7B was added gene: ATP7B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 20301685 Phenotypes for gene: ATP7B were set to Wilson disease 277900 |
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| Adult onset neurodegenerative disorder v0.2 | ATP6AP2 |
Rebecca Foulger gene: ATP6AP2 was added gene: ATP6AP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP2 were set to 23595882 Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 |
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| Adult onset neurodegenerative disorder v0.2 | ATP2B3 |
Rebecca Foulger gene: ATP2B3 was added gene: ATP2B3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATP2B3 was set to Unknown Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1 |
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| Adult onset neurodegenerative disorder v0.2 | ATP1A3 |
Rebecca Foulger gene: ATP1A3 was added gene: ATP1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A3 were set to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 Phenotypes for gene: ATP1A3 were set to Dystonia-12, 128235; Rapid-Onset Dystonia-Parkinsonism |
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| Adult onset neurodegenerative disorder v0.2 | ATP1A2 |
Rebecca Foulger gene: ATP1A2 was added gene: ATP1A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 18056581; 12953268 Phenotypes for gene: ATP1A2 were set to alternating hemiplegia of childhood 104290; familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481 |
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| Adult onset neurodegenerative disorder v0.2 | ATP13A2 |
Rebecca Foulger gene: ATP13A2 was added gene: ATP13A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to Dystonia; Kufor-Rakeb syndrome; Parkinson disease |
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| Adult onset neurodegenerative disorder v0.2 | ATN1 |
Rebecca Foulger gene: ATN1 was added gene: ATN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370 |
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| Adult onset neurodegenerative disorder v0.2 | ATM |
Rebecca Foulger gene: ATM was added gene: ATM was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia,; Ataxia-Telangiectasia |
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| Adult onset neurodegenerative disorder v0.2 | ATL1 |
Rebecca Foulger gene: ATL1 was added gene: ATL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to PMID: 11685207 Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant; Spastic paraplegia 3A, autosomal dominant |
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| Adult onset neurodegenerative disorder v0.2 | ATCAY |
Rebecca Foulger gene: ATCAY was added gene: ATCAY was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type; Cerebellar Ataxia, Cayman type |
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| Adult onset neurodegenerative disorder v0.2 | ARX |
Rebecca Foulger gene: ARX was added gene: ARX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ARX was set to Unknown Phenotypes for gene: ARX were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | ARSI |
Rebecca Foulger gene: ARSI was added gene: ARSI was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSI were set to Novarino et al. (2014) |
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| Adult onset neurodegenerative disorder v0.2 | ARSA |
Rebecca Foulger gene: ARSA was added gene: ARSA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (#250100) |
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| Adult onset neurodegenerative disorder v0.2 | ARL6IP1 |
Rebecca Foulger gene: ARL6IP1 was added gene: ARL6IP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to Novarino et al. (2014) |
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| Adult onset neurodegenerative disorder v0.2 | AR |
Rebecca Foulger gene: AR was added gene: AR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to Spinal and bulbar muscular atrophy of Kennedy, 313200 |
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| Adult onset neurodegenerative disorder v0.2 | APTX |
Rebecca Foulger gene: APTX was added gene: APTX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Dystonia |
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| Adult onset neurodegenerative disorder v0.2 | APP |
Rebecca Foulger gene: APP was added gene: APP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APP were set to 22503161; 23028126 Phenotypes for gene: APP were set to Clinical syndrome Alzheimer disease; Dementia |
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| Adult onset neurodegenerative disorder v0.2 | AP5Z1 |
Rebecca Foulger gene: AP5Z1 was added gene: AP5Z1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i Phenotypes for gene: AP5Z1 were set to Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | AP4S1 |
Rebecca Foulger gene: AP4S1 was added gene: AP4S1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4S1 were set to Abou Jamra et al. (2011) Phenotypes for gene: AP4S1 were set to developmental delay; seizures; Spastic paraplegia 52, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | AP4M1 |
Rebecca Foulger gene: AP4M1 was added gene: AP4M1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to Verkerk et al. (2009) Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | AP4E1 |
Rebecca Foulger gene: AP4E1 was added gene: AP4E1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011) Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | AP4B1 |
Rebecca Foulger gene: AP4B1 was added gene: AP4B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | AP1S2 |
Rebecca Foulger gene: AP1S2 was added gene: AP1S2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Adult onset neurodegenerative disorder v0.2 | ANO3 |
Rebecca Foulger gene: ANO3 was added gene: ANO3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANO3 were set to 25847575; 24442708; 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863 Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia |
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| Adult onset neurodegenerative disorder v0.2 | ANO10 |
Rebecca Foulger gene: ANO10 was added gene: ANO10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10, |
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| Adult onset neurodegenerative disorder v0.2 | ANG |
Rebecca Foulger gene: ANG was added gene: ANG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ANG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANG were set to 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 Phenotypes for gene: ANG were set to Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9) |
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| Adult onset neurodegenerative disorder v0.2 | AMPD2 |
Rebecca Foulger gene: AMPD2 was added gene: AMPD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to Novarino et al. (2014); PMID: 24482476 Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809) |
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| Adult onset neurodegenerative disorder v0.2 | ALS2 |
Rebecca Foulger gene: ALS2 was added gene: ALS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALS2 were set to 12145748; 23881933; 25474699; 24503148 Phenotypes for gene: ALS2 were set to Spastic paralysis, infantile onset ascending, 607225; Amyotrophic Lateral Sclerosis, Recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 |
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| Adult onset neurodegenerative disorder v0.2 | ALDH18A1 |
Rebecca Foulger gene: ALDH18A1 was added gene: ALDH18A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to 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 |
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| Adult onset neurodegenerative disorder v0.2 | ALAS2 |
Rebecca Foulger gene: ALAS2 was added gene: ALAS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Adult onset neurodegenerative disorder v0.2 | AIMP1 |
Rebecca Foulger gene: AIMP1 was added gene: AIMP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP1 were set to 21092922 Phenotypes for gene: AIMP1 were set to 260600 |
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| Adult onset neurodegenerative disorder v0.2 | AFG3L2 |
Rebecca Foulger gene: AFG3L2 was added gene: AFG3L2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive |
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| Adult onset neurodegenerative disorder v0.2 | ADCY5 |
Rebecca Foulger gene: ADCY5 was added gene: ADCY5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY5 were set to 11310626; 24700542 Phenotypes for gene: ADCY5 were set to dystonia; Dyskinesia, familial, with facial myokymia, 606703 |
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| Adult onset neurodegenerative disorder v0.2 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 28139822; 25243380 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010; dystonia |
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| Adult onset neurodegenerative disorder v0.2 | ACTB |
Rebecca Foulger gene: ACTB was added gene: ACTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ACTB was set to Unknown Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 |
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| Adult onset neurodegenerative disorder v0.2 | ABHD12 |
Rebecca Foulger gene: ABHD12 was added gene: ABHD12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
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| Adult onset neurodegenerative disorder v0.2 | ABCB7 |
Rebecca Foulger gene: ABCB7 was added gene: ABCB7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia |
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| Adult onset neurodegenerative disorder v0.2 | AARS |
Rebecca Foulger gene: AARS was added gene: AARS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Adult onset neurodegenerative disorder v0.2 | AAAS |
Rebecca Foulger gene: AAAS was added gene: AAAS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal |
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| Adult onset neurodegenerative disorder v0.0 |
Ellen McDonagh Added Panel Neurodegenerative disorders - adult onset Set panel types to: GMS Rare Disease Virtual |
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