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| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | OPTN |
Arina Puzriakova Added comment: Comment on publications: 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." PMID: 26503823 PMID: 26303227 "We conclude that: (i) OPTN mutations are associated with ALS (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration." PMID: 26203661 PMID: 25943890 PMID: 25859013 - functional evidence PMID: 25681989 |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | OPTN | Arina Puzriakova Publications for gene: OPTN were set to 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."; PMID: 26503823; PMID: 26303227 "We conclude that: (i) OPTN mutations are associated with ALS; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration."; PMID: 26203661; PMID: 25943890; PMID: 25859013 - functional evidence; PMID: 25681989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.65 | SPAST | Sarah Leigh Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.62 | NEK1 |
Andrey Gagunashvili gene: NEK1 was added gene: NEK1 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature,Research,ClinGen Mode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEK1 were set to 26945885; 27455347 Phenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 Penetrance for gene: NEK1 were set to unknown Added comment: Definitive ALS gene according to both ALSoD (https://alsod.ac.uk) and ClinGen. Sources: Literature, Research, ClinGen |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.62 | SPAST |
Andrey Gagunashvili gene: SPAST was added gene: SPAST was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature,Research Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 16832076; 18401025; 33589474 Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant Penetrance for gene: SPAST were set to unknown Review for gene: SPAST was set to AMBER Added comment: Shall be added to "Amyotrophic lateral sclerosis/motor neuron disease" gene panel due to the phenotypic overlap of ALS/MND and spastic paraplegia. This gene is included in Sheffield's group ALS/MND gene panel (Sheffield Institute for Translational Neuroscience, The University of Sheffield). Sources: Literature, Research |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.59 | SLC52A3 | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'monoallelic' to 'biallelic' as I could not identify evidence supporting relevance of heterozygous variants in disease. This is consistent with the MOI in OMIM/G2P and other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.58 | SETX | Sarah Leigh edited their review of gene: SETX: Added comment: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is also relevant to this panel.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.58 | SETX | Sarah Leigh Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.57 | SETX | Sarah Leigh Added comment: Comment on publications: PMID: 23881933 (putative disease causing variants reported in Table 1) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.57 | SETX | Sarah Leigh Publications for gene: SETX were set to 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.56 | AR_CAG | Ivone Leong commented on STR: AR_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.54 | AR_CAG | Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.54 | AR_CAG | Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.51 | AR_CAG |
Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35. Source NHS GMS was added to STR: AR_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.49 | KIF5A |
Andrey Gagunashvili gene: KIF5A was added gene: KIF5A was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to 29566793; 29342275; 30581417; 33077544; 34873335 Phenotypes for gene: KIF5A were set to Amyotrophic lateral sclerosis Penetrance for gene: KIF5A were set to unknown Review for gene: KIF5A was set to GREEN Added comment: "...mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases." (Nicolas et al., 2018) Sources: Literature |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.49 | AR | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.49 | AR | Arina Puzriakova Mode of inheritance for gene: AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.48 | AR_CAG | Arina Puzriakova Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases, OMIM:313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.47 | NOP56_GGCCTG | Arina Puzriakova Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.42 | ATXN2_CAG | Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.40 | ATXN2 | Arina Puzriakova Phenotypes for gene: ATXN2 were changed from Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 to {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.37 | SOD1 |
Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal". PMID: 7647793 identified homozygous variants in SOD1 in 14 affected people from 4 unrelated families (some were consanguineous) from Sweden or Finland with ALS. All affected individuals are homozgyous for the the same variant (D90A). Heterozygous carriers were not affected. PMID: 9817920 studied 28 pedigrees with D90A from around the world. The authors found that 20 recessive familes have the same founder haplotype as PMID:7647793, regardless of location, and that heterozygous carriers in these families were also unaffected. In the dominant families, 5 were sporadic (no family history of ALS) and 3 were familial and several founders existed for these families. This study shows that D90A can cause disease in a dominant fashion just like all other SOD1 variants. Recessive inheritance of ALS caused by D90A has also been reported in families from Russia, Germany, Iran, Italy, France, Australia, Canada, and US (PMID: 18608106, 10809943, 12442272, 11284995, 11127534, 23062701). PMID: 11220750 identified a French family with ALS, where the affected individuals were compound heterozygous for D90A and D96N in SOD1. |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.35 | FIG4 | Sarah Leigh Phenotypes for gene: FIG4 were changed from Amyotrophic Lateral Sclerosis, Dominant; Charcot-Marie-Tooth disease, type 4J, 611228 to Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640; Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.34 | ALS2 | Arina Puzriakova Phenotypes for gene: ALS2 were changed from Amyotrophic Lateral Sclerosis, Recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.33 | AR_CAG | Arina Puzriakova Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases 313200 to Spinal and bulbar muscular atrophy or Kennedy diseases, OMIM:313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.32 | AR_CAG | Arina Puzriakova Publications for STR: AR_CAG were set to 20301508; 2481485 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.31 | AR | Arina Puzriakova changed review comment from: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases.; to: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene was downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.31 | AR | Arina Puzriakova Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy, 313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.30 | AR | Arina Puzriakova Classified gene: AR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.30 | AR | Arina Puzriakova Added comment: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.30 | AR | Arina Puzriakova Gene: ar has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.29 | SQSTM1 |
Agnese Zarina gene: SQSTM1 was added gene: SQSTM1 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SQSTM1 were set to doi:10.1001/archneurol.2011.250 Phenotypes for gene: SQSTM1 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Penetrance for gene: SQSTM1 were set to Complete Review for gene: SQSTM1 was set to AMBER Added comment: The gene is included in other panels, but one of the phenotypes is also ALS Sources: Literature |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.29 | SPG11 |
Agnese Zarina gene: SPG11 was added gene: SPG11 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: SPG11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPG11 were set to https://doi.org/10.1093/brain/awp325 Phenotypes for gene: SPG11 were set to Amyotrophic lateral sclerosis 5, juvenile Penetrance for gene: SPG11 were set to Complete Review for gene: SPG11 was set to AMBER Added comment: The gene is included in other panels (e.g., spastic paraplegia), but one of the phenotypes could be also ALS Sources: Literature |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.29 | MATR3 |
Agnese Zarina gene: MATR3 was added gene: MATR3 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MATR3 were set to https://doi.org/10.1038/nn.3688 https://doi.org/10.1002/ana.24255 Phenotypes for gene: MATR3 were set to Amyotrophic lateral sclerosis 21 Penetrance for gene: MATR3 were set to Complete Review for gene: MATR3 was set to AMBER Added comment: Gene is added to the "Neuromuscular diseases" super panel and "Dystal myopathies" sub-panel, but it should be added also to the "ALS" panel. Sources: Literature |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.27 | AR_CAG |
Louise Daugherty GRCh38 position for AR_CAG was changed from 67545318-67545383 to 67545316-67545383. Mode of inheritance for STR: AR_CAG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.26 | NOP56_GGCCTG | Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.23 | ATXN2_CAG | Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.21 | NOP56_GGCCTG | Arianna Tucci Marked STR: NOP56_GGCCTG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.21 | NOP56_GGCCTG | Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Arianna Tucci classified AR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Arianna Tucci marked STR: AR_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Ellen McDonagh commented on STR: AR_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Ellen McDonagh Added STR to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Arianna Tucci marked AR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Arianna Tucci classified AR as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Arianna Tucci added AR to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Arianna Tucci reviewed AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | NEFH | Alice Gardham marked NEFH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SIGMAR1 | Alice Gardham marked SIGMAR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SIGMAR1 | Alice Gardham commented on SIGMAR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SIGMAR1 | Alice Gardham classified SIGMAR1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SLC52A1 | Alice Gardham marked SLC52A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | TBK1 | Alice Gardham marked TBK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SLC52A3 | Alice Gardham marked SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SLC52A2 | Alice Gardham marked SLC52A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SETX | Alice Gardham marked SETX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | PFN1 | Alice Gardham marked PFN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | HNRNPA1 | Alice Gardham marked HNRNPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | ERBB4 | Alice Gardham marked ERBB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | TARDBP | Alice Gardham classified TARDBP as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | TARDBP | Alice Gardham reviewed TARDBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SIGMAR1 | Ellen McDonagh commented on SIGMAR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | SIGMAR1 | Ellen McDonagh classified SIGMAR1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | ATXN2 | Ellen McDonagh marked ATXN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | TARDBP | Ellen McDonagh classified TARDBP as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | DCTN1 | Ellen McDonagh marked DCTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | DCTN1 | Ellen McDonagh marked DCTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||