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Motor Neurone Disease v1.24 TUBA4A Bryony Thompson Publications for gene: TUBA4A were set to 25374358; 25893256; 28069311; 38463699; 38884572; 26675813
Motor Neurone Disease v1.23 TUBA4A Bryony Thompson Publications for gene: TUBA4A were set to 28069311; 25374358; 26675813
Motor Neurone Disease v1.22 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Motor Neurone Disease v1.22 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Motor Neurone Disease v1.21 TUBA4A Bryony Thompson edited their review of gene: TUBA4A: Added comment: At least 13 probands reported with ALS or phenotype including motor neurone involvement. Limited segregation evidence and mechanism of disease not established - toxic gain of function, dominant negative, or loss of function suggested
PMID: 25374358 - 7 rare TUBA4A variants OR = 36 [95% CI: 10–210], p = 4.3 × 10−7, Pcorrected = 4.2 × 10−3 in an FALS cohort. Included 1 nonsense (W407X in last exon) and 6 missense variants. FALS cases n=635, controls n=5,510. T145P variant segregated with disease within the family, while K430N was not detected in an affected first cousin of the sequenced proband (?phenocopy). Functional analyses revealed that TUBA4A mutants destabilize the microtubule network, diminishing its repolymerization capability - suggesting a dominant negative mechanism of disease.
PMID: 25893256 - 4 Italian sporadic ALS cases with rare TUBA4A variants (3 missense & 1 splice variant). Minigene assay demonstrates c.226+4A>G causes exon 2 skipping which is expected to a frameshift and NMD. Loss of function is not an established mechanism of ALS in relation to TUBA4A.
PMID: 28069311 - rare missense (Thr381Met) detected in 2 siblings with ALS, but both had the C9orf72 expansion
PMID: 38463699 - reduced TUBA4A protein expression in familial and sporadic ALS brain tissue. Knockout zebrafish has a motor axonopathy and motor behavior defects reflecting a motor neuron disease phenotype
PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Amyotrophy or upper limb muscular weakness in 2/12, 16.6%.; Changed rating: GREEN; Changed publications: 25374358, 25893256, 28069311, 38463699, 38884572; Changed phenotypes: amyotrophic lateral sclerosis type 22 MONDO:0014531; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.21 OPTN Bryony Thompson Marked gene: OPTN as ready
Motor Neurone Disease v1.21 OPTN Bryony Thompson Gene: optn has been classified as Green List (High Evidence).
Motor Neurone Disease v1.21 OPTN Bryony Thompson Phenotypes for gene: OPTN were changed from to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)
Motor Neurone Disease v1.20 OPTN Bryony Thompson Publications for gene: OPTN were set to
Motor Neurone Disease v1.19 OPTN Bryony Thompson Mode of inheritance for gene: OPTN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Motor Neurone Disease v1.19 OPTN Bryony Thompson Mode of inheritance for gene: OPTN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Motor Neurone Disease v1.18 UBQLN2 Bryony Thompson Mode of inheritance for gene: UBQLN2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Motor Neurone Disease v1.18 UBQLN2 Bryony Thompson Mode of inheritance for gene: UBQLN2 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)
Motor Neurone Disease v1.17 NEFH Bryony Thompson Marked gene: NEFH as ready
Motor Neurone Disease v1.17 NEFH Bryony Thompson Gene: nefh has been classified as Red List (Low Evidence).
Motor Neurone Disease v1.17 NEFH Bryony Thompson gene: NEFH was added
gene: NEFH was added to Motor Neurone Disease. Sources: ClinGen
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEFH were set to amyotrophic lateral sclerosis MONDO:0004976
Review for gene: NEFH was set to RED
Added comment: Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 23/03/2023
https://search.clinicalgenome.org/CCID:005612
Sources: ClinGen
Motor Neurone Disease v1.16 SETX Bryony Thompson Marked gene: SETX as ready
Motor Neurone Disease v1.16 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Motor Neurone Disease v1.16 SETX Bryony Thompson Phenotypes for gene: SETX were changed from to Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
Motor Neurone Disease v1.15 SETX Bryony Thompson Publications for gene: SETX were set to
Motor Neurone Disease v1.14 SETX Bryony Thompson Mode of inheritance for gene: SETX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.13 FUS Bryony Thompson Marked gene: FUS as ready
Motor Neurone Disease v1.13 FUS Bryony Thompson Gene: fus has been classified as Green List (High Evidence).
Motor Neurone Disease v1.13 FUS Bryony Thompson Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)
Motor Neurone Disease v1.12 FUS Bryony Thompson Publications for gene: FUS were set to
Motor Neurone Disease v1.11 FUS Bryony Thompson Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.10 CYLD Zornitza Stark Marked gene: CYLD as ready
Motor Neurone Disease v1.10 CYLD Zornitza Stark Gene: cyld has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v1.10 CYLD Zornitza Stark Marked gene: CYLD as ready
Motor Neurone Disease v1.10 CYLD Zornitza Stark Gene: cyld has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v1.10 SS18L1 Zornitza Stark Phenotypes for gene: SS18L1 were changed from amyotrophic lateral sclerosis to amyotrophic lateral sclerosis (MONDO:0004976)
Motor Neurone Disease v1.9 SS18L1 Zornitza Stark Classified gene: SS18L1 as Amber List (moderate evidence)
Motor Neurone Disease v1.9 SS18L1 Zornitza Stark Gene: ss18l1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v1.8 SS18L1 Sangavi Sivagnanasundram reviewed gene: SS18L1: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006276; Phenotypes: amyotrophic lateral sclerosis (MONDO:0004976); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.8 CYLD Sangavi Sivagnanasundram reviewed gene: CYLD: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004615; Phenotypes: frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (MONDO:0030872); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.8 CHMP2B Sangavi Sivagnanasundram reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004450; Phenotypes: frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MONDO:0010936); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.8 DNAJC7 Sarah Leigh reviewed gene: DNAJC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31768050, 35039179, 34233860, 32897108, 37870677, 35456894; Phenotypes: amyotrophic lateral sclerosis; Mode of inheritance: None
Motor Neurone Disease v1.8 CCNF Zornitza Stark edited their review of gene: CCNF: Changed rating: AMBER
Motor Neurone Disease v1.8 DNAJB2 Elena Savva Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Motor Neurone Disease v1.7 DNAJB2 Lauren Rogers reviewed gene: DNAJB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881); Mode of inheritance: None
Motor Neurone Disease v1.7 MATR3 Bryony Thompson Publications for gene: MATR3 were set to
Motor Neurone Disease v1.6 MATR3 Bryony Thompson Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.5 SQSTM1 Bryony Thompson Mode of inheritance for gene: SQSTM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.4 CHMP2B Bryony Thompson Marked gene: CHMP2B as ready
Motor Neurone Disease v1.4 CHMP2B Bryony Thompson Gene: chmp2b has been classified as Green List (High Evidence).
Motor Neurone Disease v1.4 CHMP2B Bryony Thompson Phenotypes for gene: CHMP2B were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936)
Motor Neurone Disease v1.3 CHMP2B Bryony Thompson Publications for gene: CHMP2B were set to
Motor Neurone Disease v1.2 CHMP2B Bryony Thompson Mode of pathogenicity for gene: CHMP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Motor Neurone Disease v1.1 CHMP2B Bryony Thompson Mode of inheritance for gene: CHMP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.0 Bryony Thompson promoted panel to version 1.0
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson changed review comment from: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes; to: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.193 EWSR1 Bryony Thompson Marked gene: EWSR1 as ready
Motor Neurone Disease v0.193 EWSR1 Bryony Thompson Gene: ewsr1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.193 ERLIN1 Bryony Thompson Marked gene: ERLIN1 as ready
Motor Neurone Disease v0.193 ERLIN1 Bryony Thompson Gene: erlin1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.193 DAO Bryony Thompson Marked gene: DAO as ready
Motor Neurone Disease v0.193 DAO Bryony Thompson Gene: dao has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.193 CCNF Bryony Thompson edited their review of gene: CCNF: Changed rating: AMBER
Motor Neurone Disease v0.193 ANG Bryony Thompson Classified gene: ANG as Amber List (moderate evidence)
Motor Neurone Disease v0.193 ANG Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.192 LRP12-ALS_CGG Zornitza Stark Marked STR: LRP12-ALS_CGG as ready
Motor Neurone Disease v0.192 LRP12-ALS_CGG Zornitza Stark Str: lrp12-als_cgg has been classified as Green List (High Evidence).
Motor Neurone Disease v0.192 LRP12-ALS_CGG Zornitza Stark Phenotypes for STR: LRP12-ALS_CGG were changed from Amyotrophic lateral sclerosis MONDO:0004976 to Amyotrophic lateral sclerosis MONDO:0004976; Amyotrophic lateral sclerosis 28, MIM# 620452
Motor Neurone Disease v0.191 LRP12-ALS_CGG Bryony Thompson Classified STR: LRP12-ALS_CGG as Green List (high evidence)
Motor Neurone Disease v0.191 LRP12-ALS_CGG Bryony Thompson Str: lrp12-als_cgg has been classified as Green List (High Evidence).
Motor Neurone Disease v0.190 LRP12-ALS_CGG Bryony Thompson STR: LRP12-ALS_CGG was added
STR: LRP12-ALS_CGG was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for STR: LRP12-ALS_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: LRP12-ALS_CGG were set to 37339631
Phenotypes for STR: LRP12-ALS_CGG were set to Amyotrophic lateral sclerosis MONDO:0004976
Review for STR: LRP12-ALS_CGG was set to GREEN
STR: LRP12-ALS_CGG was marked as clinically relevant
Added comment: The CGG repeat expansion in the 5’UTR of LRP12 was identified in 5 ALS families and 2 simplex cases. 61-100 repeats associated with ALS, whereas >100 repeats causes OPDM. Toxic gain-of-function is the mechanism of disease. Authors’ suggest the differences in the levels of toxic RNA and MBNL1 dysfunction, in turn dependent on repeat length, may determine whether the affected individual develops ALS or OPDM.
Sources: Literature
Motor Neurone Disease v0.189 SCA2 Bryony Thompson Marked STR: SCA2 as ready
Motor Neurone Disease v0.189 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.189 SCA2 Bryony Thompson Classified STR: SCA2 as Green List (high evidence)
Motor Neurone Disease v0.189 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.188 SCA2 Bryony Thompson STR: SCA2 was added
STR: SCA2 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA2 were set to 20301452
Phenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090
Review for STR: SCA2 was set to GREEN
STR: SCA2 was marked as clinically relevant
Added comment: NM_002973​.3:c.496_498CAG[X]
Toxic protein aggregation is mechanism of disease
Benign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)
Uncertain: 32 repeats
ALS risk allele: 30-32 repeats
Reduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life
Full penetrance: ≥35 repeats
Interruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat
Sources: Literature
Motor Neurone Disease v0.187 LGALSL Bryony Thompson Marked gene: LGALSL as ready
Motor Neurone Disease v0.187 LGALSL Bryony Thompson Gene: lgalsl has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.187 LGALSL Bryony Thompson Classified gene: LGALSL as Amber List (moderate evidence)
Motor Neurone Disease v0.187 LGALSL Bryony Thompson Gene: lgalsl has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.186 LGALSL Bryony Thompson gene: LGALSL was added
gene: LGALSL was added to Motor Neurone Disease. Sources: ClinGen
Mode of inheritance for gene: LGALSL was set to Unknown
Publications for gene: LGALSL were set to 30940688
Phenotypes for gene: LGALSL were set to amyotrophic lateral sclerosis MONDO:0004976
Review for gene: LGALSL was set to AMBER
Added comment: Limited gene-disease validity assessment by ClinGen ALS spectrum disorder GCEP - 14/02/2023. Significant enrichment in a cohort of 3,239 ALS cases compared to 11,808 controls - OR = 14.63; P = 2.29e-6.
Sources: ClinGen
Motor Neurone Disease v0.185 HNRNPA2B1 Bryony Thompson Marked gene: HNRNPA2B1 as ready
Motor Neurone Disease v0.185 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.185 HNRNPA2B1 Bryony Thompson gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Motor Neurone Disease. Sources: ClinGen
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA2B1 were set to 25299611
Phenotypes for gene: HNRNPA2B1 were set to amyotrophic lateral sclerosis MONDO:0004976
Review for gene: HNRNPA2B1 was set to RED
Added comment: Limited gene-disease validity assessment by ALS spectrum disorder GCEP - 15/12/2021. Only one variant in a single ALS proband scored.
Sources: ClinGen
Motor Neurone Disease v0.184 GRN Bryony Thompson Marked gene: GRN as ready
Motor Neurone Disease v0.184 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Motor Neurone Disease v0.184 GRN Bryony Thompson Classified gene: GRN as Green List (high evidence)
Motor Neurone Disease v0.184 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Motor Neurone Disease v0.183 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Motor Neurone Disease. Sources: ClinGen
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRN were set to 18184915; 23596077
Phenotypes for gene: GRN were set to frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923
Review for gene: GRN was set to GREEN
gene: GRN was marked as current diagnostic
Added comment: Well-established FTD gene. ALS has been reported in association with some GRN variants, but appears to be a rare occurrence.
Sources: ClinGen
Motor Neurone Disease v0.182 GLT8D1 Bryony Thompson Marked gene: GLT8D1 as ready
Motor Neurone Disease v0.182 GLT8D1 Bryony Thompson Gene: glt8d1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.182 GLT8D1 Bryony Thompson Classified gene: GLT8D1 as Amber List (moderate evidence)
Motor Neurone Disease v0.182 GLT8D1 Bryony Thompson Gene: glt8d1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.181 FIG4 Bryony Thompson Marked gene: FIG4 as ready
Motor Neurone Disease v0.181 FIG4 Bryony Thompson Gene: fig4 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.181 FIG4 Bryony Thompson Phenotypes for gene: FIG4 were changed from to Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945; MIM#612577)
Motor Neurone Disease v0.180 FIG4 Bryony Thompson Mode of inheritance for gene: FIG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.179 FIG4 Bryony Thompson Classified gene: FIG4 as Amber List (moderate evidence)
Motor Neurone Disease v0.179 FIG4 Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 09/08/2022
Motor Neurone Disease v0.179 FIG4 Bryony Thompson Gene: fig4 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.178 EWSR1 Bryony Thompson Classified gene: EWSR1 as Red List (low evidence)
Motor Neurone Disease v0.178 EWSR1 Bryony Thompson Added comment: Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022
Motor Neurone Disease v0.178 EWSR1 Bryony Thompson Gene: ewsr1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.177 ERBB4 Bryony Thompson Classified gene: ERBB4 as Amber List (moderate evidence)
Motor Neurone Disease v0.177 ERBB4 Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorder GCEP - 30/09/2021
Motor Neurone Disease v0.177 ERBB4 Bryony Thompson Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.176 DAO Bryony Thompson Deleted their comment
Motor Neurone Disease v0.176 DAO Bryony Thompson Classified gene: DAO as Red List (low evidence)
Motor Neurone Disease v0.176 DAO Bryony Thompson Added comment: Comment on list classification: Refuted gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 21/04/2022
Motor Neurone Disease v0.176 DAO Bryony Thompson Gene: dao has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.176 DAO Bryony Thompson Classified gene: DAO as Red List (low evidence)
Motor Neurone Disease v0.176 DAO Bryony Thompson Added comment: Comment on list classification: Refuted gene-disease vailidity assessment by ClinGen ALS spectrum disorders GCEP - 21/04/2022
Motor Neurone Disease v0.176 DAO Bryony Thompson Gene: dao has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.175 CCNF Bryony Thompson Classified gene: CCNF as Amber List (moderate evidence)
Motor Neurone Disease v0.175 CCNF Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022
Motor Neurone Disease v0.175 CCNF Bryony Thompson Gene: ccnf has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.174 ARPP21 Bryony Thompson gene: ARPP21 was added
gene: ARPP21 was added to Motor Neurone Disease. Sources: ClinGen
Mode of inheritance for gene: ARPP21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPP21 were set to 30811981; 31653410; 35525134
Phenotypes for gene: ARPP21 were set to amyotrophic lateral sclerosis MONDO:0004976
Review for gene: ARPP21 was set to RED
Added comment: Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 10/01/2023
Sources: ClinGen
Motor Neurone Disease v0.173 ANG Bryony Thompson Classified gene: ANG as Red List (low evidence)
Motor Neurone Disease v0.173 ANG Bryony Thompson Gene: ang has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.172 ANG Bryony Thompson Deleted their comment
Motor Neurone Disease v0.172 ANG Bryony Thompson Classified gene: ANG as Amber List (moderate evidence)
Motor Neurone Disease v0.172 ANG Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity classification by ClinGen ALS GCEP - 08/02/2022
Motor Neurone Disease v0.172 ANG Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.171 ANG Bryony Thompson Classified gene: ANG as Amber List (moderate evidence)
Motor Neurone Disease v0.171 ANG Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity classification by ClinGen ALS GCEP - 08/02/2022
Motor Neurone Disease v0.171 ANG Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.170 SPTLC1 Bryony Thompson Marked gene: SPTLC1 as ready
Motor Neurone Disease v0.170 SPTLC1 Bryony Thompson Gene: sptlc1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.170 SPTLC1 Bryony Thompson Classified gene: SPTLC1 as Green List (high evidence)
Motor Neurone Disease v0.170 SPTLC1 Bryony Thompson Gene: sptlc1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.169 SPTLC1 Bryony Thompson gene: SPTLC1 was added
gene: SPTLC1 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 34059824; 35900868; 34459874
Phenotypes for gene: SPTLC1 were set to juvenile amyotrophic lateral sclerosis MONDO:0017593
Mode of pathogenicity for gene: SPTLC1 was set to Other
Review for gene: SPTLC1 was set to GREEN
Added comment: At least 10 unrelated probands/families reported with typically juvenile-onset ALS with missense or in-frame indels. Supporting in vitro functional assays demonstrate the mechanism of disease results in unregulated SPT activity and elevated levels of canonical SPT products, in contrast to the mechanism of disease for SPTLC1 variants that cause hereditary sensory and autonomic neuropathy (shift SPT amino acid usage from serine to alanine, resulting in elevated levels of deoxysphingolipids).
Sources: Literature
Motor Neurone Disease v0.168 SMN1 Bryony Thompson Marked gene: SMN1 as ready
Motor Neurone Disease v0.168 SMN1 Bryony Thompson Gene: smn1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.168 SMN1 Bryony Thompson Classified gene: SMN1 as Green List (high evidence)
Motor Neurone Disease v0.168 SMN1 Bryony Thompson Gene: smn1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.166 SMN1 Bryony Thompson gene: SMN1 was added
gene: SMN1 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMN1 were set to 20301623
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, MIM# 253300
Added comment: Differential diagnosis for ALS
Sources: Literature
Motor Neurone Disease v0.165 ANG Zornitza Stark Marked gene: ANG as ready
Motor Neurone Disease v0.165 ANG Zornitza Stark Gene: ang has been classified as Green List (High Evidence).
Motor Neurone Disease v0.165 ANG Zornitza Stark Phenotypes for gene: ANG were changed from to Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753; MIM#611895)
Motor Neurone Disease v0.164 ANG Zornitza Stark Publications for gene: ANG were set to
Motor Neurone Disease v0.163 ANG Zornitza Stark Mode of inheritance for gene: ANG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.162 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Motor Neurone Disease v0.162 ALS2 Zornitza Stark Gene: als2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.162 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from to Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780)
Motor Neurone Disease v0.161 ALS2 Zornitza Stark Publications for gene: ALS2 were set to
Motor Neurone Disease v0.160 ALS2 Zornitza Stark Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.159 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Motor Neurone Disease v0.159 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.159 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from to spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807; MIM#616867)
Motor Neurone Disease v0.158 ASCC1 Zornitza Stark Publications for gene: ASCC1 were set to
Motor Neurone Disease v0.157 ASCC1 Zornitza Stark Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.156 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Motor Neurone Disease v0.156 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.156 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from to Amytrophic Lateral Sclerosis (ALS); Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)
Motor Neurone Disease v0.155 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Motor Neurone Disease v0.154 SLC52A3 Zornitza Stark Mode of inheritance for gene: SLC52A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.153 TARDBP Zornitza Stark Marked gene: TARDBP as ready
Motor Neurone Disease v0.153 TARDBP Zornitza Stark Gene: tardbp has been classified as Green List (High Evidence).
Motor Neurone Disease v0.153 TARDBP Zornitza Stark Phenotypes for gene: TARDBP were changed from to Amyotrophic lateral sclerosis 10, with or without FTD; Frontotemporal lobar degeneration, TARDBP-related (MIM#612069; MONDO: 0012790)
Motor Neurone Disease v0.152 TARDBP Zornitza Stark Publications for gene: TARDBP were set to
Motor Neurone Disease v0.151 TARDBP Zornitza Stark Mode of inheritance for gene: TARDBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.150 TBK1 Zornitza Stark Marked gene: TBK1 as ready
Motor Neurone Disease v0.150 TBK1 Zornitza Stark Gene: tbk1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.150 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from to Amyotrophic lateral sclerosis 4 (MIM#616439; MONDO:0011223)
Motor Neurone Disease v0.149 TBK1 Zornitza Stark Publications for gene: TBK1 were set to
Motor Neurone Disease v0.148 TBK1 Zornitza Stark Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.147 UBQLN2 Zornitza Stark Marked gene: UBQLN2 as ready
Motor Neurone Disease v0.147 UBQLN2 Zornitza Stark Gene: ubqln2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.147 UBQLN2 Zornitza Stark Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis type 15 (MONDO:0010459; MIM#300857)
Motor Neurone Disease v0.146 UBQLN2 Zornitza Stark Publications for gene: UBQLN2 were set to
Motor Neurone Disease v0.145 UBQLN2 Zornitza Stark Mode of inheritance for gene: UBQLN2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.144 VAPB Zornitza Stark Marked gene: VAPB as ready
Motor Neurone Disease v0.144 VAPB Zornitza Stark Gene: vapb has been classified as Green List (High Evidence).
Motor Neurone Disease v0.144 VAPB Zornitza Stark Phenotypes for gene: VAPB were changed from to Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980); Amyotrophic lateral sclerosis 8
Motor Neurone Disease v0.143 VAPB Zornitza Stark Publications for gene: VAPB were set to
Motor Neurone Disease v0.142 VAPB Zornitza Stark Mode of inheritance for gene: VAPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.141 VAPB Zornitza Stark Tag founder tag was added to gene: VAPB.
Motor Neurone Disease v0.141 VCP Zornitza Stark Marked gene: VCP as ready
Motor Neurone Disease v0.141 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Motor Neurone Disease v0.141 VCP Zornitza Stark Phenotypes for gene: VCP were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954)
Motor Neurone Disease v0.140 VCP Zornitza Stark Publications for gene: VCP were set to
Motor Neurone Disease v0.139 VCP Zornitza Stark Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 VCP Sangavi Sivagnanasundram reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301649, 20301623, 21145000; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 VAPB Sangavi Sivagnanasundram reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623, 15372378; Phenotypes: Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980), Amyotrophic lateral sclerosis 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 UBQLN2 Sangavi Sivagnanasundram reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623, 21857683; Phenotypes: Amyotrophic lateral sclerosis type 15 (MONDO:0010459, MIM#300857); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.138 TBK1 Sangavi Sivagnanasundram reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623, 25803835; Phenotypes: Amyotrophic lateral sclerosis 4 (MIM#616439, mMONDO:0011223); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 TARDBP Sangavi Sivagnanasundram reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301761, 18309045, 19609911; Phenotypes: Amyotrophic lateral sclerosis 10, with or without FTD, Frontotemporal lobar degeneration, TARDBP-related (MIM#612069, MONDO: 0012790); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 SLC52A3 Sangavi Sivagnanasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072523; Phenotypes: Amytrophic Lateral Sclerosis (ALS), Brown-Vialetto-van Laere syndrome 1 (MIM# 211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.138 SLC52A2 Sangavi Sivagnanasundram changed review comment from: Well established gene causative of ALS - Phenotypic features typically seen with an early age of onset (within the first few years of life)

PMID: 22864630
HEK293 in vitro functional assay was conducted that showed the reduced transporter activity compared to the wildtype in the presence of a SLC52A2 mutation.; to: Well established gene with overlapping phenotypic features consistent with ALS - Phenotypic features typically seen with an early age of onset (within the first few years of life)

PMID: 22864630
HEK293 in vitro functional assay was conducted that showed the reduced transporter activity compared to the wildtype in the presence of a SLC52A2 mutation.
Motor Neurone Disease v0.138 SLC52A2 Sangavi Sivagnanasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072523, 22864630, 22740598, 20206331, 21110228; Phenotypes: Amyotrophic lateral sclerosis (ALS), Brown-Vialetto-van Laere syndrome 2 (MIM#614707) (BVVLS2); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.138 SIGMAR1 Sangavi Sivagnanasundram reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26078401; Phenotypes: ?Spinal muscular atrophy, distal, autosomal recessive, 2 (MIM#605726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.138 SETX Sangavi Sivagnanasundram reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 15106121, 9497266; Phenotypes: Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Motor Neurone Disease v0.138 OPTN Sangavi Sivagnanasundram reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20428114, 31838784, 27493188; Phenotypes: Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v0.138 FUS Sangavi Sivagnanasundram reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: None; Publications: 19251628, 19251627; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 ASCC1 Sangavi Sivagnanasundram reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529, 28218388; Phenotypes: spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807, MIM#616867); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.138 FIG4 Sangavi Sivagnanasundram reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118816, 20301623; Phenotypes: Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945, MIM#612577); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 DCTN1 Sangavi Sivagnanasundram reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15326253, 12062019; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to} - MIM# 105400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v0.138 ANG Sangavi Sivagnanasundram reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: None; Publications: 17886298, 16501576, 18087731, 20301623; Phenotypes: Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753, MIM#611895); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.138 ALS2 Sangavi Sivagnanasundram reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24562058, 11586298; Phenotypes: Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100, MONDO: MONDO:0008780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.138 GLT8D1 Sarah Leigh reviewed gene: GLT8D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30811981, 35525134:33581933:31653410:33714647:34746377; Phenotypes: familial amyotrophic lateral sclerosis, MONDO:0005144; Mode of inheritance: None
Motor Neurone Disease v0.138 RNF13 Alison Yeung Marked gene: RNF13 as ready
Motor Neurone Disease v0.138 RNF13 Alison Yeung Gene: rnf13 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.138 RNF13 Alison Yeung Classified gene: RNF13 as Amber List (moderate evidence)
Motor Neurone Disease v0.138 RNF13 Alison Yeung Gene: rnf13 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.138 RNF13 Alison Yeung Classified gene: RNF13 as Amber List (moderate evidence)
Motor Neurone Disease v0.138 RNF13 Alison Yeung Gene: rnf13 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.137 RNF13 Melanie Marty changed review comment from: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies on patients cells showed an absence of protein.
Sources: Literature; to: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies showed an absence of protein.
Sources: Literature
Motor Neurone Disease v0.137 RNF13 Melanie Marty gene: RNF13 was added
gene: RNF13 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: RNF13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF13 were set to PMID: 35879052
Phenotypes for gene: RNF13 were set to Amyotrophic lateral sclerosis
Review for gene: RNF13 was set to AMBER
Added comment: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies on patients cells showed an absence of protein.
Sources: Literature
Motor Neurone Disease v0.137 HNRNPA1 Zornitza Stark Marked gene: HNRNPA1 as ready
Motor Neurone Disease v0.137 HNRNPA1 Zornitza Stark Gene: hnrnpa1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.137 HNRNPA1 Zornitza Stark Phenotypes for gene: HNRNPA1 were changed from to Amyotrophic lateral sclerosis 20 MIM#615426
Motor Neurone Disease v0.136 HNRNPA1 Zornitza Stark Publications for gene: HNRNPA1 were set to
Motor Neurone Disease v0.135 HNRNPA1 Zornitza Stark Mode of inheritance for gene: HNRNPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.134 HNRNPA1 Zornitza Stark reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23455423, 34291734; Phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.134 PRPH Zornitza Stark Marked gene: PRPH as ready
Motor Neurone Disease v0.134 PRPH Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.134 PRPH Zornitza Stark Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Motor Neurone Disease v0.133 PRPH Zornitza Stark Publications for gene: PRPH were set to
Motor Neurone Disease v0.132 PRPH Zornitza Stark Mode of inheritance for gene: PRPH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v0.132 PRPH Zornitza Stark Mode of inheritance for gene: PRPH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v0.131 Bryony Thompson removed STR:NIID from the panel
Motor Neurone Disease v0.130 FTDALS Bryony Thompson Marked STR: FTDALS as ready
Motor Neurone Disease v0.130 FTDALS Bryony Thompson Str: ftdals has been classified as Green List (High Evidence).
Motor Neurone Disease v0.130 FTDALS Bryony Thompson Classified STR: FTDALS as Green List (high evidence)
Motor Neurone Disease v0.130 FTDALS Bryony Thompson Str: ftdals has been classified as Green List (High Evidence).
Motor Neurone Disease v0.129 FTDALS Bryony Thompson STR: FTDALS was added
STR: FTDALS was added to Motor Neurone Disease. Sources: Expert list
Mode of inheritance for STR: FTDALS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FTDALS were set to 25577942; 21944779; 21944778
Phenotypes for STR: FTDALS were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Review for STR: FTDALS was set to GREEN
STR: FTDALS was marked as clinically relevant
Added comment: NG_031977​.1:g.5321GGGGCC[X]
Repeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation
Normal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal
Pathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic
Note: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units.
Sources: Expert list
Motor Neurone Disease v0.128 Bryony Thompson removed STR:C9orf72 from the panel
Motor Neurone Disease v0.127 NIID Zornitza Stark Phenotypes for STR: NIID were changed from Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866 to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866; Oculopharyngodistal myopathy 3, MIM# 619473
Motor Neurone Disease v0.126 NIID Zornitza Stark reviewed STR: NIID: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 3, MIM# 619473; Mode of inheritance: None
Motor Neurone Disease v0.126 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from Distal hereditary motor neuropathy; dHMN/dSMA to Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia; Distal hereditary motor neuropathy; dHMN/dSMA
Motor Neurone Disease v0.125 VRK1 Zornitza Stark Publications for gene: VRK1 were set to 31560180; 32242460; 31178479; 31837156; 30847374
Motor Neurone Disease v0.124 VRK1 Zornitza Stark Classified gene: VRK1 as Amber List (moderate evidence)
Motor Neurone Disease v0.124 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.123 VRK1 Michelle Torres reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34169149, 26583493, 31837156; Phenotypes: Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.123 VRK1 Michelle Torres Deleted their review
Motor Neurone Disease v0.123 VRK1 Michelle Torres commented on gene: VRK1
Motor Neurone Disease v0.123 NIID Bryony Thompson Marked STR: NIID as ready
Motor Neurone Disease v0.123 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Motor Neurone Disease v0.123 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Motor Neurone Disease v0.123 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Motor Neurone Disease v0.122 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Motor Neurone Disease v0.122 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Motor Neurone Disease v0.121 NIID Bryony Thompson edited their review of STR: NIID: Changed rating: GREEN
Motor Neurone Disease v0.121 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Motor Neurone Disease v0.120 CYLD Bryony Thompson Classified gene: CYLD as Amber List (moderate evidence)
Motor Neurone Disease v0.120 CYLD Bryony Thompson Gene: cyld has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.119 CYLD Bryony Thompson gene: CYLD was added
gene: CYLD was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYLD were set to 32666117; 32666099; 32185393
Phenotypes for gene: CYLD were set to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Mode of pathogenicity for gene: CYLD was set to Other
Review for gene: CYLD was set to AMBER
Added comment: Original study (PMID: 32185393) identified a gain of function missense segregating 7 FTD cases (1 also with ALS) and 1 ALS case in an Australian family, that has a previously identified linkage peak in this region. Extensive genomic studies were conducted to exclude structural variation and repeats as causes. Supporting immunohistochemical evidence in brain tissue and extensive in vitro assays on the missense variant (M719V), showing a different mechanism of disease to loss of function that is associated with cutaneous phenotypes. Also, demonstrated a significant enrichment of rare missense variants in the deubiquitinase domain of CYLD (amino acids 593–948) in an FTD cohort, but not an ALS cohort. A subsequent Portuguese FTD study has identified two missense VUS in 2 FTD cases. Segregation studies or functional studies were not conducted (PMID: 32666117).
Sources: Literature
Motor Neurone Disease v0.118 CCNF Zornitza Stark Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Motor Neurone Disease v0.117 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.117 TIA1 Zornitza Stark Phenotypes for gene: TIA1 were changed from to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133
Motor Neurone Disease v0.116 TIA1 Zornitza Stark reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.116 Bryony Thompson Panel name changed from Motor Neuron Disease to Motor Neurone Disease
Motor Neurone Disease v0.115 HEXB Bryony Thompson Marked gene: HEXB as ready
Motor Neurone Disease v0.115 HEXB Bryony Thompson Gene: hexb has been classified as Green List (High Evidence).
Motor Neurone Disease v0.115 HEXB Bryony Thompson Classified gene: HEXB as Green List (high evidence)
Motor Neurone Disease v0.115 HEXB Bryony Thompson Gene: hexb has been classified as Green List (High Evidence).
Motor Neurone Disease v0.114 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXB were set to 31995250; 24263030
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms MIM#268800
Review for gene: HEXB was set to GREEN
Added comment: In cases with adult onset disease, lower motor neuron disorder has been reported as a presenting feature of the condition. Has been reported as a differential diagnosis for ALS/MND.
Sources: Literature
Motor Neurone Disease v0.113 HEXA Bryony Thompson Marked gene: HEXA as ready
Motor Neurone Disease v0.113 HEXA Bryony Thompson Gene: hexa has been classified as Green List (High Evidence).
Motor Neurone Disease v0.113 HEXA Bryony Thompson Classified gene: HEXA as Green List (high evidence)
Motor Neurone Disease v0.113 HEXA Bryony Thompson Gene: hexa has been classified as Green List (High Evidence).
Motor Neurone Disease v0.112 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXA were set to 31995250; 31076878
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800
Review for gene: HEXA was set to GREEN
Added comment: In cases with adult onset disease, lower motor neuron disorder has been reported as a presenting feature of the condition. Has been reported as a differential diagnosis for ALS/MND.
Sources: Literature
Motor Neurone Disease v0.111 PFN1 Ain Roesley reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141414, 22801503, 25499087, 24309268, 22801503, 26908597; Phenotypes: Amyotrophic lateral sclerosis 18 (MIM# 614808); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.111 SBMA Zornitza Stark Marked STR: SBMA as ready
Motor Neurone Disease v0.111 SBMA Zornitza Stark Str: sbma has been classified as Green List (High Evidence).
Motor Neurone Disease v0.110 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Motor Neurone Disease v0.110 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.110 DNAJB2 Zornitza Stark Phenotypes for gene: DNAJB2 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Motor Neurone Disease v0.109 DNAJB2 Zornitza Stark Mode of inheritance for gene: DNAJB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.107 IGHMBP2 Zornitza Stark Classified gene: IGHMBP2 as Red List (low evidence)
Motor Neurone Disease v0.107 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.106 IGHMBP2 Zornitza Stark changed review comment from: SMA-like disorder with prominent diaphragmatic involvement but onset is in infancy.; to: SMA-like disorder with prominent diaphragmatic involvement but onset is in infancy. Included in Hereditary Neuropathy_Isolated panel.
Motor Neurone Disease v0.106 IGHMBP2 Zornitza Stark edited their review of gene: IGHMBP2: Changed rating: RED
Motor Neurone Disease v0.106 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Motor Neurone Disease v0.106 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.106 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081
Motor Neurone Disease v0.105 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Motor Neurone Disease v0.104 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.103 EXOSC8 Zornitza Stark Classified gene: EXOSC8 as Red List (low evidence)
Motor Neurone Disease v0.103 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.102 EXOSC8 Zornitza Stark changed review comment from: This disorder includes a spinal muscular atrophy component in addition to the PCH, but onset is typically in infancy.; to: This disorder includes a spinal muscular atrophy component in addition to the PCH, but onset is typically in infancy. Gene is included in Hereditary Neuropathy_Complex panel.
Motor Neurone Disease v0.102 EXOSC8 Zornitza Stark edited their review of gene: EXOSC8: Changed rating: RED
Motor Neurone Disease v0.102 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Motor Neurone Disease v0.102 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.102 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600
Motor Neurone Disease v0.101 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.100 DYNC1H1 Zornitza Stark Classified gene: DYNC1H1 as Red List (low evidence)
Motor Neurone Disease v0.100 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.99 DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.99 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Motor Neurone Disease v0.99 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Motor Neurone Disease v0.99 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.99 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Motor Neurone Disease v0.98 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.97 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Motor Neurone Disease v0.97 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.96 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.96 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Motor Neurone Disease v0.96 ATP7A Zornitza Stark Gene: atp7a has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.96 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Spinal muscular atrophy, distal, X-linked 3, 300489
Motor Neurone Disease v0.95 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.94 ATP7A Zornitza Stark Classified gene: ATP7A as Red List (low evidence)
Motor Neurone Disease v0.94 ATP7A Zornitza Stark Gene: atp7a has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.93 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, X-linked 3, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.93 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Motor Neurone Disease v0.93 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.93 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Motor Neurone Disease v0.92 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.91 ASAH1 Zornitza Stark Classified gene: ASAH1 as Red List (low evidence)
Motor Neurone Disease v0.91 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.90 ASAH1 Zornitza Stark changed review comment from: Early childhood onset, included in Peripheral Neuropathy panels.; to: Early childhood onset, included in Hereditary Neuropathy panels.
Motor Neurone Disease v0.90 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, 159950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.90 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Motor Neurone Disease v0.90 VRK1 Zornitza Stark Gene: vrk1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.90 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to Distal hereditary motor neuropathy; dHMN/dSMA
Motor Neurone Disease v0.89 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Motor Neurone Disease v0.88 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.87 VRK1 Zornitza Stark Classified gene: VRK1 as Red List (low evidence)
Motor Neurone Disease v0.87 VRK1 Zornitza Stark Gene: vrk1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.86 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: None; Publications: 31560180, 32242460, 31178479, 31837156, 30847374; Phenotypes: Distal hereditary motor neuropathy, dHMN/dSMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.85 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Motor Neurone Disease v0.85 UBA1 Zornitza Stark Gene: uba1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.85 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Motor Neurone Disease v0.84 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Motor Neurone Disease v0.83 UBA1 Zornitza Stark Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.82 UBA1 Zornitza Stark Classified gene: UBA1 as Red List (low evidence)
Motor Neurone Disease v0.82 UBA1 Zornitza Stark Gene: uba1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.81 UBA1 Zornitza Stark reviewed gene: UBA1: Rating: RED; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.81 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Motor Neurone Disease v0.81 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.81 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from to Spinal muscular atrophy, distal, congenital nonprogressive, 600175
Motor Neurone Disease v0.80 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.79 TRPV4 Zornitza Stark Classified gene: TRPV4 as Red List (low evidence)
Motor Neurone Disease v0.79 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.78 TRPV4 Zornitza Stark reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Motor Neurone Disease v0.78 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Motor Neurone Disease v0.78 TRIP4 Zornitza Stark Gene: trip4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.78 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Motor Neurone Disease v0.77 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Motor Neurone Disease v0.76 TRIP4 Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.75 TRIP4 Zornitza Stark Classified gene: TRIP4 as Red List (low evidence)
Motor Neurone Disease v0.75 TRIP4 Zornitza Stark Gene: trip4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.74 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: RED; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.74 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Motor Neurone Disease v0.74 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.74 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from to Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099
Motor Neurone Disease v0.73 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Marked STR: C9orf72 as ready
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Tag STR tag was added to STR: C9orf72.
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Classified STR: C9orf72 as Green List (high evidence)
Motor Neurone Disease v0.72 C9orf72 Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.71 C9orf72 Bryony Thompson STR: C9orf72 was added
STR: C9orf72 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: C9orf72 were set to 25577942
Phenotypes for STR: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Review for STR: C9orf72 was set to GREEN
STR: C9orf72 was marked as clinically relevant
Added comment: NG_031977​.1:g.5321GGGGCC[X]
Repeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation
Normal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal
Pathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic
Note: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units.
Sources: Expert list
Motor Neurone Disease v0.70 SPG11 Zornitza Stark Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.69 SPG11 Zornitza Stark reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20110243; Phenotypes: Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.69 PLEKHG5 Zornitza Stark Marked gene: PLEKHG5 as ready
Motor Neurone Disease v0.69 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.69 PLEKHG5 Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Motor Neurone Disease v0.68 PLEKHG5 Zornitza Stark Publications for gene: PLEKHG5 were set to
Motor Neurone Disease v0.67 PLEKHG5 Zornitza Stark Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.66 PLEKHG5 Zornitza Stark Classified gene: PLEKHG5 as Red List (low evidence)
Motor Neurone Disease v0.66 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.65 PLEKHG5 Zornitza Stark reviewed gene: PLEKHG5: Rating: RED; Mode of pathogenicity: None; Publications: 17564964; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.65 LAS1L Zornitza Stark Phenotypes for gene: LAS1L were changed from Wilson-Turner syndrome, MIM# 309585 to congenital lethal motor neuron disease
Motor Neurone Disease v0.64 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed phenotypes: congenital lethal motor neuron disease
Motor Neurone Disease v0.64 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Motor Neurone Disease v0.64 LAS1L Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.64 LAS1L Zornitza Stark Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Motor Neurone Disease v0.63 LAS1L Zornitza Stark Publications for gene: LAS1L were set to
Motor Neurone Disease v0.62 LAS1L Zornitza Stark Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.61 LAS1L Zornitza Stark Classified gene: LAS1L as Red List (low evidence)
Motor Neurone Disease v0.61 LAS1L Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.60 LAS1L Zornitza Stark reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: None; Publications: 24647030; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Motor Neurone Disease v0.60 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Motor Neurone Disease v0.60 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.60 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from to Neuronopathy, distal hereditary motor, type VI 604320
Motor Neurone Disease v0.59 IGHMBP2 Zornitza Stark Mode of inheritance for gene: IGHMBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.58 IGHMBP2 Zornitza Stark reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type VI 604320; Mode of inheritance: None
Motor Neurone Disease v0.58 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.58 DNAJB2 Zornitza Stark reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Motor Neurone Disease v0.58 TUBA4A Zornitza Stark Marked gene: TUBA4A as ready
Motor Neurone Disease v0.58 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.58 TUBA4A Zornitza Stark Phenotypes for gene: TUBA4A were changed from to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208
Motor Neurone Disease v0.57 TUBA4A Zornitza Stark Publications for gene: TUBA4A were set to
Motor Neurone Disease v0.56 TUBA4A Zornitza Stark Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.55 TUBA4A Zornitza Stark Classified gene: TUBA4A as Amber List (moderate evidence)
Motor Neurone Disease v0.55 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.54 TUBA4A Zornitza Stark reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28069311, 25374358, 26675813; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.54 DNAJC7 Zornitza Stark reviewed gene: DNAJC7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Marked gene: NEK1 as ready
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Gene: nek1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Classified gene: NEK1 as Green List (high evidence)
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Gene: nek1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.53 NEK1 Bryony Thompson gene: NEK1 was added
gene: NEK1 was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEK1 were set to 31768050; 26945885; 27455347; 29929116
Phenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892
Review for gene: NEK1 was set to GREEN
Added comment: Exome-wide significant burden of heterozygous loss-of-function identified in ALS case-control studies that is replicated in both familial and simplex cohorts. Segregation of a PTV reported in 2 affected first-degree relatives in a single family. A loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Sources: Literature
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Marked gene: DNAJC7 as ready
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Classified gene: DNAJC7 as Amber List (moderate evidence)
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.51 DNAJC7 Seb Lunke gene: DNAJC7 was added
gene: DNAJC7 was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJC7 were set to 31768050
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. However gene described as risk factor, unclear why.

DOI: https://doi.org/10.1212/NXG.0000000000000503
Sources: Literature
Motor Neurone Disease v0.50 SBMA Bryony Thompson Classified STR: SBMA as Green List (high evidence)
Motor Neurone Disease v0.50 SBMA Bryony Thompson Str: sbma has been classified as Green List (High Evidence).
Motor Neurone Disease v0.49 SBMA Bryony Thompson STR: SBMA was added
STR: SBMA was added to Motor Neuron Disease. Sources: Expert list
STR tags were added to STR: SBMA.
Mode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SBMA were set to 20301508; 29325606
Phenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Review for STR: SBMA was set to GREEN
STR: SBMA was marked as clinically relevant
Added comment: NM_000044.4:c.172_174CAG[X]
Toxic gain of function mechanism of disease
Normal: ≤34 repeats
Unknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members
Reduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members.
Full-penetrance: ≥38 repeats
Sources: Expert list
Motor Neurone Disease v0.48 SPG7 Bryony Thompson Marked gene: SPG7 as ready
Motor Neurone Disease v0.48 SPG7 Bryony Thompson Gene: spg7 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.48 SPG7 Bryony Thompson Classified gene: SPG7 as Green List (high evidence)
Motor Neurone Disease v0.48 SPG7 Bryony Thompson Gene: spg7 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.47 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 16765570; 19364936
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive MIM#607259
Review for gene: SPG7 was set to GREEN
Added comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. There are multiple reports of the condition mimicking MND.
Sources: Literature
Motor Neurone Disease v0.46 SPAST Bryony Thompson Marked gene: SPAST as ready
Motor Neurone Disease v0.46 SPAST Bryony Thompson Gene: spast has been classified as Green List (High Evidence).
Motor Neurone Disease v0.46 SPAST Bryony Thompson Classified gene: SPAST as Green List (high evidence)
Motor Neurone Disease v0.46 SPAST Bryony Thompson Gene: spast has been classified as Green List (High Evidence).
Motor Neurone Disease v0.45 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPAST were set to 16765570; 19364936
Review for gene: SPAST was set to GREEN
Added comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. There are multiple reports of the condition mimicking MND.
Sources: Expert list
Motor Neurone Disease v0.44 REEP1 Bryony Thompson Marked gene: REEP1 as ready
Motor Neurone Disease v0.44 REEP1 Bryony Thompson Gene: reep1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.44 REEP1 Bryony Thompson Classified gene: REEP1 as Green List (high evidence)
Motor Neurone Disease v0.44 REEP1 Bryony Thompson Gene: reep1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.43 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REEP1 were set to 23108492; 22703882
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant MIM#610250
Review for gene: REEP1 was set to GREEN
Added comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper and lower motor neurons.
Sources: Expert list
Motor Neurone Disease v0.42 GBE1 Bryony Thompson Classified gene: GBE1 as Green List (high evidence)
Motor Neurone Disease v0.42 GBE1 Bryony Thompson Gene: gbe1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.41 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Motor Neuron Disease. 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
Motor Neurone Disease v0.40 BSCL2 Bryony Thompson Classified gene: BSCL2 as Green List (high evidence)
Motor Neurone Disease v0.40 BSCL2 Bryony Thompson Gene: bscl2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.39 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BSCL2 were set to 16765570
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Neuropathy, distal hereditary motor, type VA MIM#600794
Review for gene: BSCL2 was set to GREEN
Added comment: The HSP and distal HMN caused by this gene can be classified as a non-ALS MND, affecting both upper and lower motor neurons.
Sources: Expert list
Motor Neurone Disease v0.38 ATL1 Bryony Thompson Classified gene: ATL1 as Green List (high evidence)
Motor Neurone Disease v0.38 ATL1 Bryony Thompson Gene: atl1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.37 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL1 were set to 16765570
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant MIM#182600
Review for gene: ATL1 was set to GREEN
Added comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons.
Sources: Expert list
Motor Neurone Disease v0.36 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Motor Neurone Disease v0.35 UBQLN4 Bryony Thompson Classified gene: UBQLN4 as Amber List (moderate evidence)
Motor Neurone Disease v0.35 UBQLN4 Bryony Thompson Gene: ubqln4 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.34 UBQLN4 Bryony Thompson gene: UBQLN4 was added
gene: UBQLN4 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: UBQLN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBQLN4 were set to 28463112; 30804504
Phenotypes for gene: UBQLN4 were set to Amyotrophic lateral sclerosis
Review for gene: UBQLN4 was set to AMBER
Added comment: A single familial case and supporting functional studies and animal model.
Sources: Expert list
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Marked gene: TIA1 as ready
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Classified gene: TIA1 as Amber List (moderate evidence)
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.32 TIA1 Bryony Thompson gene: TIA1 was added
gene: TIA1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: TIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIA1 were set to 29235362; 29886022; 29773329; 29699721; 29216908; 24659297; 29457785; 28817800
Review for gene: TIA1 was set to AMBER
Added comment: >3 cases with ALS and functional studies, but no true replication study
Sources: Expert list
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Marked gene: TAF15 as ready
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Gene: taf15 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Classified gene: TAF15 as Amber List (moderate evidence)
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Gene: taf15 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.30 TAF15 Bryony Thompson gene: TAF15 was added
gene: TAF15 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF15 were set to 21438137; 22065782; 27810362; 28889094
Phenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis
Review for gene: TAF15 was set to AMBER
Added comment: No family studies, but >3 cases and functional studies.
Sources: Expert list
Motor Neurone Disease v0.29 UBA1 Bryony Thompson Deleted their review
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Marked gene: SS18L1 as ready
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Gene: ss18l1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Classified gene: SS18L1 as Green List (high evidence)
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Gene: ss18l1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.28 TRIP4 Bryony Thompson Deleted their review
Motor Neurone Disease v0.28 SS18L1 Bryony Thompson gene: SS18L1 was added
gene: SS18L1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: SS18L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SS18L1 were set to 25888396; 24360741; 23708140; 30976389
Phenotypes for gene: SS18L1 were set to amyotrophic lateral sclerosis
Review for gene: SS18L1 was set to GREEN
Added comment: >3 cases with heterozygote variants (de novo status confirmed or expected), and supporting functional evidence.
Sources: Expert list
Motor Neurone Disease v0.27 PRPH Bryony Thompson Classified gene: PRPH as Amber List (moderate evidence)
Motor Neurone Disease v0.27 PRPH Bryony Thompson Gene: prph has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.26 PRPH Bryony Thompson changed review comment from: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model.
Sources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case (Asp141Tyr) reported that doesn't appear to have more severe disease. The Asp141Tyr missense NFE AF in gnomAD is 0.005730, which is on the high side. There is also some supporting evidence in a mouse model.
Sources: Expert list
Motor Neurone Disease v0.26 PRPH Bryony Thompson changed review comment from: ALS susceptibility loci
Sources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model.
Sources: Expert list
Motor Neurone Disease v0.26 PRPH Bryony Thompson edited their review of gene: PRPH: Changed publications: 20363051, 15322088, 15446584
Motor Neurone Disease v0.26 PLEKHG5 Bryony Thompson Deleted their review
Motor Neurone Disease v0.26 KIF5A Bryony Thompson Classified gene: KIF5A as Green List (high evidence)
Motor Neurone Disease v0.26 KIF5A Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence).
Motor Neurone Disease v0.25 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 29342275; 30301576; 29566793
Phenotypes for gene: KIF5A were set to {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921
Review for gene: KIF5A was set to GREEN
Added comment: 12 patients from 9 unrelated families with ALS, had heterozygous LOF variants in the C-terminal region cargo-binding region. Variants causing SPG10 are almost exclusively missense mutations that affect the N-terminal motor domain.
Sources: Expert list
Motor Neurone Disease v0.24 GNE Bryony Thompson gene: GNE was added
gene: GNE was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 29086072
Phenotypes for gene: GNE were set to Amyotrophic lateral sclerosis
Review for gene: GNE was set to RED
Added comment: Single family reported with ALS
Sources: Expert list
Motor Neurone Disease v0.23 GLT8D1 Bryony Thompson Classified gene: GLT8D1 as Green List (high evidence)
Motor Neurone Disease v0.23 GLT8D1 Bryony Thompson Gene: glt8d1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.22 GLT8D1 Bryony Thompson gene: GLT8D1 was added
gene: GLT8D1 was added to Motor Neuron Disease. 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
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
Motor Neurone Disease v0.21 DAO Bryony Thompson gene: DAO was added
gene: DAO was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: DAO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAO were set to 29274788; 29895397; 20368421; 29194436
Phenotypes for gene: DAO were set to Amyotrophic Lateral Sclerosis
Review for gene: DAO was set to RED
Added comment: Many mouse models, but reported variant in a case is R199W, which has gnomAD AF higher than expected for a dominant ALS gene. No compelling evidence in human cases.
Sources: Expert list
Motor Neurone Disease v0.20 EWSR1 Bryony Thompson Classified gene: EWSR1 as Amber List (moderate evidence)
Motor Neurone Disease v0.20 EWSR1 Bryony Thompson Gene: ewsr1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.19 EWSR1 Bryony Thompson gene: EWSR1 was added
gene: EWSR1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: EWSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EWSR1 were set to 29731676; 22454397
Phenotypes for gene: EWSR1 were set to Amyotrophic lateral sclerosis
Review for gene: EWSR1 was set to AMBER
Added comment: Mouse model and 2 missense reported in 2 ALS cases, but no other reports in ALS cases since 2012
Sources: Expert list
Motor Neurone Disease v0.18 ERLIN1 Bryony Thompson gene: ERLIN1 was added
gene: ERLIN1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 29453415
Phenotypes for gene: ERLIN1 were set to Amyotrophic lateral sclerosis
Review for gene: ERLIN1 was set to RED
Added comment: Homozygous varinat segregates with ALS in a single family
Sources: Expert list
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Marked gene: ERBB4 as ready
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Gene: erbb4 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Classified gene: ERBB4 as Green List (high evidence)
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Gene: erbb4 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.16 ERBB4 Bryony Thompson gene: ERBB4 was added
gene: ERBB4 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERBB4 were set to 24119685; 28889094
Phenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19 MIM#615515
Review for gene: ERBB4 was set to GREEN
Added comment: At least 4 cases with ALS
Sources: Expert list
Motor Neurone Disease v0.15 LAS1L Bryony Thompson Deleted their review
Motor Neurone Disease v0.15 IGHMBP2 Bryony Thompson Deleted their review
Motor Neurone Disease v0.15 EXOSC8 Bryony Thompson Deleted their review
Motor Neurone Disease v0.15 DCTN1 Bryony Thompson Deleted their review
Motor Neurone Disease v0.15 CCNF Bryony Thompson Marked gene: CCNF as ready
Motor Neurone Disease v0.15 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Motor Neurone Disease v0.15 CCNF Bryony Thompson Classified gene: CCNF as Green List (high evidence)
Motor Neurone Disease v0.15 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Motor Neurone Disease v0.14 CCNF Bryony Thompson gene: CCNF was added
gene: CCNF was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCNF were set to 29102476; 31577344; 27080313; 28105640; 31445393; 28852778
Phenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia
Review for gene: CCNF was set to GREEN
Added comment: >3 cases/families and supporting functional evidence
Sources: Expert list
Motor Neurone Disease v0.13 ASCC1 Bryony Thompson Deleted their review
Motor Neurone Disease v0.13 ANXA11 Bryony Thompson Classified gene: ANXA11 as Green List (high evidence)
Motor Neurone Disease v0.13 ANXA11 Bryony Thompson Gene: anxa11 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.12 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997
Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839
Review for gene: ANXA11 was set to GREEN
Added comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Classified gene: AIFM1 as Red List (low evidence)
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Added comment: Comment on list classification: Motor neuron degeneration is not a prominent feature of the condition. Only one case reported.
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Gene: aifm1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.9 SLC52A1 Zornitza Stark Marked gene: SLC52A1 as ready
Motor Neurone Disease v0.9 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.9 SLC52A1 Zornitza Stark Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, MIM#615026
Motor Neurone Disease v0.8 SLC52A1 Zornitza Stark Publications for gene: SLC52A1 were set to
Motor Neurone Disease v0.7 SLC52A1 Zornitza Stark Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.6 SLC52A1 Zornitza Stark Classified gene: SLC52A1 as Red List (low evidence)
Motor Neurone Disease v0.6 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.5 SLC52A1 Zornitza Stark reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: None; Publications: 29122468, 17689999; Phenotypes: Riboflavin deficiency, MIM#615026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.5 SLC52A1 Kristin Rigbye Deleted their review
Motor Neurone Disease v0.5 SOD1 Zornitza Stark Marked gene: SOD1 as ready
Motor Neurone Disease v0.5 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.5 SOD1 Zornitza Stark Phenotypes for gene: SOD1 were changed from to Amyotrophic lateral sclerosis 1 (105400 AD, AR); Spastic tetraplegia and axial hypotonia, progressive (618598 AR)
Motor Neurone Disease v0.4 SOD1 Zornitza Stark Publications for gene: SOD1 were set to
Motor Neurone Disease v0.3 SOD1 Zornitza Stark Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v0.2 SOD1 Melanie Marty reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8625408, 21545237, 16503123; Phenotypes: Amyotrophic lateral sclerosis 1 (105400 AD, AR), Spastic tetraplegia and axial hypotonia, progressive (618598 AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Motor Neurone Disease v0.2 SLC52A1 Kristin Rigbye Deleted their comment
Motor Neurone Disease v0.2 SLC52A1 Kristin Rigbye commented on gene: SLC52A1
Motor Neurone Disease v0.2 Zornitza Stark Panel name changed from Motor neuron disease_MND to Motor Neuron Disease
Motor Neurone Disease v0.1 Zornitza Stark Panel name changed from Motor neuron disease MND_MelbourneGenomics_VCGS to Motor neuron disease_MND
Panel types changed to Victorian Clinical Genetics Services
Motor Neurone Disease v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: VRK1 was set to Unknown
Motor Neurone Disease v0.0 VCP Zornitza Stark gene: VCP was added
gene: VCP was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: VCP was set to Unknown
Motor Neurone Disease v0.0 VAPB Zornitza Stark gene: VAPB was added
gene: VAPB was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: VAPB was set to Unknown
Motor Neurone Disease v0.0 UBQLN2 Zornitza Stark gene: UBQLN2 was added
gene: UBQLN2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: UBQLN2 was set to Unknown
Motor Neurone Disease v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: UBA1 was set to Unknown
Motor Neurone Disease v0.0 TUBA4A Zornitza Stark gene: TUBA4A was added
gene: TUBA4A was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: TUBA4A was set to Unknown
Motor Neurone Disease v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: TRPV4 was set to Unknown
Motor Neurone Disease v0.0 TRIP4 Zornitza Stark gene: TRIP4 was added
gene: TRIP4 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: TRIP4 was set to Unknown
Motor Neurone Disease v0.0 TBK1 Zornitza Stark gene: TBK1 was added
gene: TBK1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: TBK1 was set to Unknown
Motor Neurone Disease v0.0 TARDBP Zornitza Stark gene: TARDBP was added
gene: TARDBP was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: TARDBP was set to Unknown
Motor Neurone Disease v0.0 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SQSTM1 was set to Unknown
Motor Neurone Disease v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SPG11 was set to Unknown
Motor Neurone Disease v0.0 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SPART was set to Unknown
Motor Neurone Disease v0.0 SOD1 Zornitza Stark gene: SOD1 was added
gene: SOD1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SOD1 was set to Unknown
Motor Neurone Disease v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SLC52A3 was set to Unknown
Motor Neurone Disease v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SLC52A2 was set to Unknown
Motor Neurone Disease v0.0 SLC52A1 Zornitza Stark gene: SLC52A1 was added
gene: SLC52A1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SLC52A1 was set to Unknown
Motor Neurone Disease v0.0 SIGMAR1 Zornitza Stark gene: SIGMAR1 was added
gene: SIGMAR1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SIGMAR1 was set to Unknown
Motor Neurone Disease v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: SETX was set to Unknown
Motor Neurone Disease v0.0 PRPH Zornitza Stark gene: PRPH was added
gene: PRPH was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: PRPH was set to Unknown
Motor Neurone Disease v0.0 PLEKHG5 Zornitza Stark gene: PLEKHG5 was added
gene: PLEKHG5 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: PLEKHG5 was set to Unknown
Motor Neurone Disease v0.0 PFN1 Zornitza Stark gene: PFN1 was added
gene: PFN1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: PFN1 was set to Unknown
Motor Neurone Disease v0.0 OPTN Zornitza Stark gene: OPTN was added
gene: OPTN was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: OPTN was set to Unknown
Motor Neurone Disease v0.0 MATR3 Zornitza Stark gene: MATR3 was added
gene: MATR3 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: MATR3 was set to Unknown
Motor Neurone Disease v0.0 LAS1L Zornitza Stark gene: LAS1L was added
gene: LAS1L was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: LAS1L was set to Unknown
Motor Neurone Disease v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: IGHMBP2 was set to Unknown
Motor Neurone Disease v0.0 HNRNPA1 Zornitza Stark gene: HNRNPA1 was added
gene: HNRNPA1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: HNRNPA1 was set to Unknown
Motor Neurone Disease v0.0 FUS Zornitza Stark gene: FUS was added
gene: FUS was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: FUS was set to Unknown
Motor Neurone Disease v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: FIG4 was set to Unknown
Motor Neurone Disease v0.0 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: EXOSC8 was set to Unknown
Motor Neurone Disease v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: DYNC1H1 was set to Unknown
Motor Neurone Disease v0.0 DNAJB2 Zornitza Stark gene: DNAJB2 was added
gene: DNAJB2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: DNAJB2 was set to Unknown
Motor Neurone Disease v0.0 DCTN1 Zornitza Stark gene: DCTN1 was added
gene: DCTN1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: DCTN1 was set to Unknown
Motor Neurone Disease v0.0 CHMP2B Zornitza Stark gene: CHMP2B was added
gene: CHMP2B was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: CHMP2B was set to Unknown
Motor Neurone Disease v0.0 CHCHD10 Zornitza Stark gene: CHCHD10 was added
gene: CHCHD10 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: CHCHD10 was set to Unknown
Motor Neurone Disease v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: BICD2 was set to Unknown
Motor Neurone Disease v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: ATP7A was set to Unknown
Motor Neurone Disease v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: ASCC1 was set to Unknown
Motor Neurone Disease v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: ASAH1 was set to Unknown
Motor Neurone Disease v0.0 ANG Zornitza Stark gene: ANG was added
gene: ANG was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: ANG was set to Unknown
Motor Neurone Disease v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: ALS2 was set to Unknown
Motor Neurone Disease v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship
Mode of inheritance for gene: AIFM1 was set to Unknown
Motor Neurone Disease v0.0 Zornitza Stark Added panel Motor neuron disease MND_MelbourneGenomics_VCGS