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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 Phenotypes for gene: OPTN were changed from to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)
Motor Neurone Disease v1.19 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 v1.16 SETX Bryony Thompson Phenotypes for gene: SETX were changed from to Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
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 Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)
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 SS18L1 Zornitza Stark Phenotypes for gene: SS18L1 were changed from amyotrophic lateral sclerosis to amyotrophic lateral sclerosis (MONDO:0004976)
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 v1.6 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 Phenotypes for gene: CHMP2B were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936)
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 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 v0.193 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 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 v0.181 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 v0.173 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 v0.165 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 Phenotypes for gene: ALS2 were changed from to Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780)
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 Phenotypes for gene: ASCC1 were changed from to spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807; MIM#616867)
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 Phenotypes for gene: SLC52A3 were changed from to Amytrophic Lateral Sclerosis (ALS); Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)
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 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 v0.151 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 Phenotypes for gene: TBK1 were changed from to Amyotrophic lateral sclerosis 4 (MIM#616439; MONDO:0011223)
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 Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis type 15 (MONDO:0010459; MIM#300857)
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 Phenotypes for gene: VAPB were changed from to Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980); Amyotrophic lateral sclerosis 8
Motor Neurone Disease v0.142 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 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 v0.139 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 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 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 v0.137 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 HNRNPA1 Zornitza Stark Phenotypes for gene: HNRNPA1 were changed from to Amyotrophic lateral sclerosis 20 MIM#615426
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 PRPH Zornitza Stark Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400
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 v0.127 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 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 v0.121 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 v0.118 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 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 Bryony Thompson Panel name changed from Motor Neuron Disease to Motor Neurone Disease
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 v0.110 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 v0.106 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 Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081
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 v0.102 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 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 v0.99 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 v0.96 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 v0.93 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 v0.90 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 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to Distal hereditary motor neuropathy; dHMN/dSMA
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 v0.85 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Motor Neurone Disease v0.83 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 v0.81 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 v0.78 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Motor Neurone Disease v0.76 TRIP4 Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.70 SPG11 Zornitza Stark Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.67 PLEKHG5 Zornitza Stark Mode of inheritance for gene: PLEKHG5 was changed from Unknown to 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 Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
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 v0.60 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 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 v0.56 TUBA4A Zornitza Stark Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.36 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
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 v0.9 SLC52A1 Zornitza Stark Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, MIM#615026
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 v0.5 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 v0.3 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 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 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