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| Neurodegenerative disorders, adult onset v9.3 | FIG4 |
Ida Ertmanska changed review comment from: PMID: 38695966 Ferreira et al., 2024 Case report of a 34yo European male with ALS and a het FIG4:c.122T>C, p.Ile41Thr variant - fairly high gnomAD freq in the European population = 0.001949 (includes 2 homozygotes); known Pathogenic variant in recessive CMT cases. PMID: 36090855 Yilihamu et al., 2022 Het FIG4 c.350dupC, p.Asp118GlyfsTer9 variant reported in a 55yo Chinese patient with rapidly progressive ALS. PMID: 35021275 Liu et al., 2021 Cohort of 15 familial ALS (FALS) indexes and 275 sporadic ALS (SALS) patients of Han Chinese origin. Only sequenced FIG4. 2 SALS patients had het FIG4 variants: c.352G>T [p.D118Y] - labelled VUS, 1 allele in gnomAD v4; c.2158G>T [p.E720X] - classified LP, not in gnomAD v4. PMID: 29464931 Bertolin et al., 2018 Case report of a 27yo Caucasian female. EMG and NCS did not show peripheral neuropathy or denervation signs. Spinal cord MRI was normal, while brain MRI showed cortical and CC atrophy. She was diagnosed with juvenile ALS. Genetic testing detected comp het FIG4 variants c.122T>C, p.Ile41Thr & c.1667C>T, p.Thr556Ile. PMID: 28051077 Osmanovic et al., 2017 German family with 2 individuals affected by ALS. Index patient and his father harboured FIG4:c.759delG, p.(F254Sfs*8). Index patient had ALS onset at 40yrs, but father was unaffected at 75yrs. Paternal great aunt affected but not genotyped (deceased). No good evidence of segregation. Method: WES. 5 sporadic patients also detected with het missense variants in FIG4: c.122T>C, p.(I41T); c.1619C>T, p.(T540I); c.919G>A, p.(D307N); c.1940A>G, p.(Y647C); c.2558C>T, p.(S853L). FIG4 is associated with AD Amyotrophic lateral sclerosis 11, MIM:612577 in OMIM (accessed 28th Jul 2026). The association between FIG4 and AD amyotrophic lateral sclerosis type 11 was classified as Limited in ClinGen (Amyotrophic Lateral Sclerosis Spectrum Disorders GCEP, Aug 2022).; to: PMID: 38695966 Ferreira et al., 2024 Case report of a 34yo European male with ALS and a het FIG4:c.122T>C, p.Ile41Thr variant - fairly high gnomAD freq in the European population = 0.001949 (includes 2 homozygotes); known Pathogenic variant in recessive CMT cases. PMID: 36090855 Yilihamu et al., 2022 Het FIG4 c.350dupC, p.Asp118GlyfsTer9 variant reported in a 55yo Chinese patient with rapidly progressive ALS. PMID: 35021275 Liu et al., 2021 Cohort of 15 familial ALS (FALS) indexes and 275 sporadic ALS (SALS) patients of Han Chinese origin. Only sequenced FIG4. 2 SALS patients had het FIG4 variants: c.352G>T [p.D118Y] - labelled VUS, 1 allele in gnomAD v4; c.2158G>T [p.E720X] - classified LP, not in gnomAD v4. PMID: 29464931 Bertolin et al., 2018 Case report of a 27yo Caucasian female. EMG and NCS did not show peripheral neuropathy or denervation signs. Spinal cord MRI was normal, while brain MRI showed cortical and CC atrophy. She was diagnosed with juvenile ALS. Genetic testing detected comp het FIG4 variants c.122T>C, p.Ile41Thr & c.1667C>T, p.Thr556Ile. PMID: 28051077 Osmanovic et al., 2017 German family with 2 individuals affected by ALS. Index patient and his father harboured FIG4:c.759delG, p.(F254Sfs*8). Index patient had ALS onset at 40yrs, but father was unaffected at 75yrs. Paternal great aunt affected but not genotyped (deceased). No good evidence of segregation. Method: WES. 5 sporadic patients also detected with het missense variants in FIG4: c.122T>C, p.(I41T); c.1619C>T, p.(T540I); c.919G>A, p.(D307N); c.1940A>G, p.(Y647C); c.2558C>T, p.(S853L). FIG4 is associated with AD Amyotrophic lateral sclerosis 11, MIM:612577 in OMIM (accessed 28th Jul 2026). The association between FIG4 and AD amyotrophic lateral sclerosis type 11 was classified as Limited in ClinGen (Amyotrophic Lateral Sclerosis Spectrum Disorders GCEP, Aug 2022). |
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| Neurodegenerative disorders, adult onset v9.3 | FIG4 |
Ida Ertmanska changed review comment from: PMID: 38695966 Ferreira et al., 2024 Case report of a 34yo European male with ALS and a het FIG4:c.122T>C, p.Ile41Thr variant - fairly high gnomAD freq in the European population = 0.001949 (includes 2 homozygotes); known Pathogenic variant in recessive CMT cases. PMID: 36090855 Yilihamu et al., 2022 Het FIG4 c.350dupC, p.Asp118GlyfsTer9 variant reported in a 55yo Chinese patient with rapidly progressive ALS. PMID: 35021275 Liu et al., 2021 Cohort of 15 familial ALS (FALS) indexes and 275 sporadic ALS (SALS) patients of Han Chinese origin. Only sequenced FIG4. 2 SALS patients had het FIG4 variants: c.352G>T [p.D118Y] - labelled VUS; c.2158G>T [p.E720X] - classified LP. PMID: 29464931 Bertolin et al., 2018 Case report of a 27yo Caucasian female. EMG and NCS did not show peripheral neuropathy or denervation signs. Spinal cord MRI was normal, while brain MRI showed cortical and CC atrophy. She was diagnosed with juvenile ALS. Genetic testing detected comp het FIG4 variants c.122T>C, p.Ile41Thr & c.1667C>T, p.Thr556Ile. PMID: 28051077 Osmanovic et al., 2017 German family with 2 individuals affected by ALS. Index patient and his father harboured FIG4:c.759delG, p.(F254Sfs*8). Index patient had ALS onset at 40yrs, but father was unaffected at 75yrs. Paternal great aunt affected but not genotyped (deceased). No good evidence of segregation. Method: WES. 5 sporadic patients also detected with het missense variants in FIG4: c.122T>C, p.(I41T); c.1619C>T, p.(T540I); c.919G>A, p.(D307N); c.1940A>G, p.(Y647C); c.2558C>T, p.(S853L). FIG4 is associated with AD Amyotrophic lateral sclerosis 11, MIM:612577 in OMIM (accessed 28th Jul 2026). The association between FIG4 and AD amyotrophic lateral sclerosis type 11 was classified as Limited in ClinGen (Amyotrophic Lateral Sclerosis Spectrum Disorders GCEP, Aug 2022).; to: PMID: 38695966 Ferreira et al., 2024 Case report of a 34yo European male with ALS and a het FIG4:c.122T>C, p.Ile41Thr variant - fairly high gnomAD freq in the European population = 0.001949 (includes 2 homozygotes); known Pathogenic variant in recessive CMT cases. PMID: 36090855 Yilihamu et al., 2022 Het FIG4 c.350dupC, p.Asp118GlyfsTer9 variant reported in a 55yo Chinese patient with rapidly progressive ALS. PMID: 35021275 Liu et al., 2021 Cohort of 15 familial ALS (FALS) indexes and 275 sporadic ALS (SALS) patients of Han Chinese origin. Only sequenced FIG4. 2 SALS patients had het FIG4 variants: c.352G>T [p.D118Y] - labelled VUS, 1 allele in gnomAD v4; c.2158G>T [p.E720X] - classified LP, not in gnomAD v4. PMID: 29464931 Bertolin et al., 2018 Case report of a 27yo Caucasian female. EMG and NCS did not show peripheral neuropathy or denervation signs. Spinal cord MRI was normal, while brain MRI showed cortical and CC atrophy. She was diagnosed with juvenile ALS. Genetic testing detected comp het FIG4 variants c.122T>C, p.Ile41Thr & c.1667C>T, p.Thr556Ile. PMID: 28051077 Osmanovic et al., 2017 German family with 2 individuals affected by ALS. Index patient and his father harboured FIG4:c.759delG, p.(F254Sfs*8). Index patient had ALS onset at 40yrs, but father was unaffected at 75yrs. Paternal great aunt affected but not genotyped (deceased). No good evidence of segregation. Method: WES. 5 sporadic patients also detected with het missense variants in FIG4: c.122T>C, p.(I41T); c.1619C>T, p.(T540I); c.919G>A, p.(D307N); c.1940A>G, p.(Y647C); c.2558C>T, p.(S853L). FIG4 is associated with AD Amyotrophic lateral sclerosis 11, MIM:612577 in OMIM (accessed 28th Jul 2026). The association between FIG4 and AD amyotrophic lateral sclerosis type 11 was classified as Limited in ClinGen (Amyotrophic Lateral Sclerosis Spectrum Disorders GCEP, Aug 2022). |
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| Neurodegenerative disorders, adult onset v9.3 | FIG4 | Ida Ertmanska reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28051077, 29464931, 35021275, 36090855, 38695966; Phenotypes: Amyotrophic lateral sclerosis 11, OMIM:612577; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v8.21 | FIG4 | Anjali Lloyd-Jani reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 19118816; Phenotypes: Autosomal recessive Yunis-Varon syndrome and CMT4J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v3.49 | FIG4 | Arina Puzriakova Tag Q3_21_MOI was removed from gene: FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v3.49 | FIG4 | Arina Puzriakova commented on gene: FIG4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v3.48 | FIG4 | Arina Puzriakova Mode of inheritance for gene FIG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.263 | FIG4 |
Eleanor Williams Tag Q3_21_NHS_review was removed from gene: FIG4. Tag Q4_21_expert_review was removed from gene: FIG4. |
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| Neurodegenerative disorders, adult onset v2.263 | FIG4 | Sarah Leigh commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.262 | FIG4 |
Eleanor Williams Source Expert Review Red was added to FIG4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Neurodegenerative disorders, adult onset v2.201 | FIG4 |
Sarah Leigh changed review comment from: In with respect to Ian Berry's proposed demotion of FIG4, after reviewing PMID:19118816. Helen Brittain (Genomics England Clinical Fellow) has suggested the rating of this gene should be considered by TEWG oversight committee, as there is a lack of evidence for ALS.; to: Q4_21_expert_review tag has been added to this gene. Helen Brittain (Genomics England Clinical Fellow) has suggested that the rating of this gene should be considered by TEWG oversight committee, in response to Ian Berry's proposed demotion of FIG4, after reviewing PMID:19118816, which shows a lack of evidence for ALS. |
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| Neurodegenerative disorders, adult onset v2.201 | FIG4 | Sarah Leigh edited their review of gene: FIG4: Added comment: In with respect to Ian Berry's proposed demotion of FIG4, after reviewing PMID:19118816. Helen Brittain (Genomics England Clinical Fellow) has suggested the rating of this gene should be considered by TEWG oversight committee, as there is a lack of evidence for ALS.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.201 | FIG4 | Sarah Leigh Tag Q4_21_expert_review tag was added to gene: FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.188 | FIG4 | Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.187 | FIG4 | Sarah Leigh changed review comment from: The Q3_21_MOI tag has been added as Amyotrophic lateral sclerosis 11 (OMIM:612577) is monoallelic Charcot-Marie-Tooth disease, type 4J (OMIM:611228) is biallelic.; to: The Q3_21_MOI tag has been added as Amyotrophic lateral sclerosis 11 (OMIM:612577) is monoallelic and Charcot-Marie-Tooth disease, type 4J (OMIM:611228) is biallelic, therefore the mode of inheritance should be - BOTH monoallelic and biallelic, autosomal or pseudoautosomal for this gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.182 | FIG4 | Sarah Leigh commented on gene: FIG4: The Q3_21_MOI tag has been added as Amyotrophic lateral sclerosis 11 (OMIM:612577) is monoallelic Charcot-Marie-Tooth disease, type 4J (OMIM:611228) is biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.182 | FIG4 | Sarah Leigh Tag Q3_21_MOI tag was added to gene: FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.182 | FIG4 | Sarah Leigh edited their review of gene: FIG4: Added comment: Associated with relevant phenotype in OMIM, but not associated with Amyotrophic lateral sclerosis 11 (OMIM:612577) or Charcot-Marie-Tooth disease, type 4J (OMIM:611228) in Gen2Phen. At least three variants reported in three cases of Amyotrophic lateral sclerosis 11 (OMIM:612577)(PMID: 19118816), and two variants in at least one case of Charcot-Marie-Tooth disease, type 4J (OMIM:611228)(PMID: 21705420).; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.182 | FIG4 | Sarah Leigh Phenotypes for gene: FIG4 were changed from Amyotrophic lateral sclerosis 11, OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640 to Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.181 | FIG4 | Sarah Leigh Publications for gene: FIG4 were set to 19118816; 23888880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.180 | FIG4 | Sarah Leigh Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Amyotrophic lateral sclerosis 11, OMIM:612577 to Amyotrophic lateral sclerosis 11, OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.174 | FIG4 | Ian Berry reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19118816; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v2.83 | FIG4 | Ivone Leong Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic Lateral Sclerosis, Dominant to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Amyotrophic lateral sclerosis 11, OMIM:612577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.101 | FIG4 | Louise Daugherty commented on gene: FIG4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.100 | FIG4 | Louise Daugherty Source Wessex and West Midlands GLH was added to FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.99 | FIG4 | Tracy Lester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | FIG4 | Louise Daugherty Publications for gene FIG4 were changed from PMID: 19118816 to 19118816; 23888880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FIG4 | Louise Daugherty commented on gene: FIG4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | FIG4 | Nick Beauchamp reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19118816, 23888880; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.67 | FIG4 | Louise Daugherty Source Yorkshire and North East GLH was added to FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.11 | FIG4 | Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.10 | FIG4 | James Polke reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.9 | FIG4 | Louise Daugherty Source NHS GMS was added to FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.8 | FIG4 | Louise Daugherty Source London North GLH was added to FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset 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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