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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
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 v1.68 OPTN Arina Puzriakova Phenotypes for gene: OPTN were changed from Amyotrophic Lateral Sclerosis, Recessive; Glaucoma 1, open angle, E, 137760 to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435
Amyotrophic lateral sclerosis/motor neuron disease v1.67 SPAST Sarah Leigh Publications for gene: SPAST were set to 16832076; 18401025; 33589474
Amyotrophic lateral sclerosis/motor neuron disease v1.66 SPAST Sarah Leigh reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240363, 18401025, 33589474; Phenotypes: ; Mode of inheritance: None
Amyotrophic lateral sclerosis/motor neuron disease v1.66 SPAST Sarah Leigh Classified gene: SPAST as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.66 SPAST Sarah Leigh Gene: spast has been classified as Green List (High Evidence).
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 v1.64 NEK1 Sarah Leigh Phenotypes for gene: NEK1 were changed from Amyotrophic lateral sclerosis, susceptibility to, 24 to Amyotrophic lateral sclerosis, susceptibility to, 24, OMIM:617892; amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750
Amyotrophic lateral sclerosis/motor neuron disease v1.63 NEK1 Sarah Leigh reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Amyotrophic lateral sclerosis/motor neuron disease v1.63 NEK1 Sarah Leigh Classified gene: NEK1 as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.63 NEK1 Sarah Leigh Gene: nek1 has been classified as Green List (High Evidence).
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
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
Amyotrophic lateral sclerosis/motor neuron disease v1.62 KIF5A Sarah Leigh Phenotypes for gene: KIF5A were changed from Amyotrophic lateral sclerosis to {Amyotrophic lateral sclerosis, susceptibility to, 25}, OMIM:617921; amyotrophic lateral sclerosis, susceptibility to, 25, MONDO:0060670
Amyotrophic lateral sclerosis/motor neuron disease v1.61 KIF5A Sarah Leigh reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Amyotrophic lateral sclerosis/motor neuron disease v1.61 KIF5A Sarah Leigh Classified gene: KIF5A as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.61 KIF5A Sarah Leigh Gene: kif5a has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.60 SETX Arina Puzriakova Mode of inheritance for gene: SETX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amyotrophic lateral sclerosis/motor neuron disease v1.59 SETX Arina Puzriakova Tag Q2_22_MOI was removed from gene: SETX.
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 v1.59 SLC52A3 Arina Puzriakova Mode of inheritance for gene: SLC52A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
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 Tag Q2_22_MOI tag was added to gene: SETX.
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 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Amyotrophic lateral sclerosis/motor neuron disease v1.56 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease v1.56 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease v1.56 AR_CAG Ivone Leong commented on STR: AR_CAG
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.55 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.55 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
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 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.51 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.51 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
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)
Amyotrophic lateral sclerosis/motor neuron disease v1.50 UNC13A Sarah Leigh Publications for gene: UNC13A were set to
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
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 v1.46 C9orf72_GGGGCC Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Amyotrophic lateral sclerosis/motor neuron disease v1.45 C9orf72 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 v1.45 C9orf72 Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Amyotrophic lateral sclerosis/motor neuron disease v1.44 C9orf72 Arina Puzriakova Publications for gene: C9orf72 were set to PMID: 21944778; 21944779; 25638642; 27059391; 23597494
Amyotrophic lateral sclerosis/motor neuron disease v1.43 C9orf72 Arina Puzriakova Phenotypes for gene: C9orf72 were changed from Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3; Hexanucleotide repeat expansion; Frontotemporal Dementia, Amyotrophic Lateral Sclerosis; amyotrophic lateral sclerosis; frontotemporal dementia; Frontotemporal Dementia, Amyotrophic Lateral Sclerosis to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Amyotrophic lateral sclerosis/motor neuron disease v1.42 C9orf72 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: C9orf72.
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 v1.41 ATXN2 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 v1.41 ATXN2 Arina Puzriakova Mode of inheritance for gene: ATXN2 was changed from to Other
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 v1.39 ATXN2 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Amyotrophic lateral sclerosis/motor neuron disease v1.39 SOD1 Ivone Leong Phenotypes for gene: SOD1 were changed from Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 1, 105400; amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis 1, OMIM:105400
Amyotrophic lateral sclerosis/motor neuron disease v1.38 SOD1 Ivone Leong Publications for gene: SOD1 were set to 23687121
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.
Amyotrophic lateral sclerosis/motor neuron disease v1.37 SOD1 Ivone Leong Mode of inheritance for gene: SOD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amyotrophic lateral sclerosis/motor neuron disease v1.36 FIG4 Sarah Leigh Mode of inheritance for gene: FIG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amyotrophic lateral sclerosis/motor neuron disease v1.35 FIG4 Sarah Leigh reviewed gene: FIG4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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
Amyotrophic lateral sclerosis/motor neuron disease v1.29 ANXA11 Agnese Zarina gene: ANXA11 was added
gene: ANXA11 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to DOI: 10.1126/scitranslmed.aad9157
Phenotypes for gene: ANXA11 were set to Amyotrophic lateral sclerosis 23
Penetrance for gene: ANXA11 were set to Complete
Review for gene: ANXA11 was set to AMBER
Added comment: gene is added to "Neurodegenerative disorders - adult onset" panel, but one of the phenotype is also ALS
Sources: Literature
Amyotrophic lateral sclerosis/motor neuron disease v1.29 TUBA4A Agnese Zarina gene: TUBA4A was added
gene: TUBA4A was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to https://doi.org/10.1016/j.neuron.2014.09.027
Phenotypes for gene: TUBA4A were set to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Penetrance for gene: TUBA4A were set to Complete
Review for gene: TUBA4A was set to AMBER
Added comment: Gene is added to "Neurodegenerative disorders - adult onset" panel, but the phenotype can be also amyotrophic lateral sclerosis with or without frontotemporal dementia
Sources: Literature
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
Amyotrophic lateral sclerosis/motor neuron disease v1.29 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
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)
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 v1.25 NOP56_GGCCTG Arianna Tucci Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.24 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 NOP56_GGCCTG Louise Daugherty Tag STR tag was added to STR: NOP56_GGCCTG.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as No list
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 v1.23 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been removed from the panel.
Amyotrophic lateral sclerosis/motor neuron disease v1.22 NOP56_GGCCTG Arianna Tucci Classified STR: NOP56_GGCCTG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.22 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
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 v1.21 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Red List (Low Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Expert Review
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Arianna Tucci classified C9orf72 as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Arianna Tucci classified C9orf72 as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Arianna Tucci classified C9orf72 as Red List (low evidence)
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 ATXN2 Ellen McDonagh reviewed STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh commented on STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease AR Ellen McDonagh commented on STR: AR_CAG
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh edited their review of STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh Added STR to panel
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh commented on STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh Added STR to panel
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 SETX Sarah Leigh commented on SETX
Amyotrophic lateral sclerosis/motor neuron disease Alice Gardham promoted panel to version 1
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 SLC52A1 Alice Gardham commented on SLC52A1
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Alice Gardham classified SLC52A1 as red
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham marked TBK1 as ready
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham classified TBK1 as green
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham marked SLC52A3 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham classified SLC52A3 as green
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham marked SLC52A2 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham classified SLC52A2 as green
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham marked SETX as ready
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham classified SETX as green
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham marked PFN1 as ready
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham classified PFN1 as green
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham marked HNRNPA1 as ready
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham classified HNRNPA1 as green
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham commented on HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham marked ERBB4 as ready
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham classified ERBB4 as red
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Arianna Tucci reviewed PFN1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Arianna Tucci reviewed NEFH
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Arianna Tucci reviewed HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Arianna Tucci reviewed ERBB4
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham reviewed SLC52A3
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham reviewed SLC52A2
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham reviewed TBK1
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 SETX Alice Gardham reviewed SETX
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham reviewed PFN1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Alice Gardham reviewed NEFH
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham reviewed ERBB4
Amyotrophic lateral sclerosis/motor neuron disease VCP Ellen McDonagh classified VCP as green
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Ellen McDonagh classified TBK1 as amber
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Ellen McDonagh commented on TBK1
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Ellen McDonagh classified SIGMAR1 as amber
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Ellen McDonagh commented on SIGMAR1
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Ellen McDonagh classified PFN1 as amber
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Ellen McDonagh commented on PFN1
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Ellen McDonagh classified HNRNPA1 as amber
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Ellen McDonagh commented on HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Ellen McDonagh classified ERBB4 as amber
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Ellen McDonagh commented on ERBB4
Amyotrophic lateral sclerosis/motor neuron disease CHCHD10 Ellen McDonagh classified CHCHD10 as red
Amyotrophic lateral sclerosis/motor neuron disease CHCHD10 Ellen McDonagh commented on CHCHD10
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh marked ATXN2 as ready
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh classified ATXN2 as red
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Ellen McDonagh classified SLC52A3 as amber
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Ellen McDonagh commented on SLC52A2
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Ellen McDonagh classified SLC52A2 as amber
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Ellen McDonagh classified SLC52A1 as amber
Amyotrophic lateral sclerosis/motor neuron disease TARDBP Ellen McDonagh classified TARDBP as amber
Amyotrophic lateral sclerosis/motor neuron disease SETX Ellen McDonagh edited their review of SETX
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