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| Childhood onset hereditary spastic paraplegia v8.20 | ATL1 |
Achchuthan Shanmugasundram changed review comment from: There are at least 10 unrelated patients reported with early-onset spastic paraplegia and de novo heterozygous variants in ATL1 gene. Monoallelic ATL1 variants have been associated with 'Spastic paraplegia 3A, autosomal dominant' phenotype in OMIM (MIM #182600; OMIM accessed on 13 October 2025) and with 'ATL1-related hereditary spastic paraplegia' phenotype on DD panel of Gene2Phenotype (with 'definitive' rating). There are five unrelated families reported with homozygous variants in ATL1 gene and with early-onset hereditary spastic paraplegia. Biallelic ATL1 variants have not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. This gene is rated green with the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on the 'Hereditary Spastic Paraplegia - paediatric' panel from PanelApp Australia (https://panelapp-aus.org/panels/317/gene/ATL1/).; to: There are at least 10 unrelated patients reported with early-onset spastic paraplegia and de novo heterozygous variants in ATL1 gene. The autosomal dominant disorder is generally caused by missense variants, generating a dominant-negative effect. Monoallelic ATL1 variants have been associated with 'Spastic paraplegia 3A, autosomal dominant' phenotype in OMIM (MIM #182600; OMIM accessed on 13 October 2025) and with 'ATL1-related hereditary spastic paraplegia' phenotype on DD panel of Gene2Phenotype (with 'definitive' rating). There are five unrelated families reported with homozygous variants in ATL1 gene and with early-onset hereditary spastic paraplegia. These include homozygous nonsense and missense variants. Biallelic ATL1 variants have not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. This gene is rated green with the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on the 'Hereditary Spastic Paraplegia - paediatric' panel from PanelApp Australia (https://panelapp-aus.org/panels/317/gene/ATL1/). |
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| Childhood onset hereditary spastic paraplegia v8.20 | ATL1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there is sufficient evidence available for the association of both monoallelic and biallelic ATL1 variants with early-onset spastic paraplegia, the mode of inheritance of this gene can be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.20 | ATL1 | Achchuthan Shanmugasundram Mode of inheritance for gene: ATL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.19 | ATL1 | Achchuthan Shanmugasundram Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant to Spastic paraplegia 3A, autosomal dominant, OMIM:182600; hereditary spastic paraplegia 3A, MONDO:0008437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.18 | ATL1 | Achchuthan Shanmugasundram Publications for gene: ATL1 were set to 11685207; 15517445; 35925862 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.17 | ATL1 | Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: ATL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.17 | ATL1 |
Achchuthan Shanmugasundram changed review comment from: There are at least 10 unrelated patients reported with early-onset spastic paraplegia and de novo heterozygous variants in ATL1 gene. Monoallelic ATL1 variants have been associated with 'Spastic paraplegia 3A, autosomal dominant' phenotype in OMIM (MIM #182600; OMIM accessed on 13 October 2025) and with 'ATL1-related hereditary spastic paraplegia' phenotype on DD panel of Gene2Phenotype (with 'definitive' rating). There are five unrelated families reported with homozygous variants in ATL1 gene and with early-onset hereditary spastic paraplegia. Biallelic ATL1 variants have not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: There are at least 10 unrelated patients reported with early-onset spastic paraplegia and de novo heterozygous variants in ATL1 gene. Monoallelic ATL1 variants have been associated with 'Spastic paraplegia 3A, autosomal dominant' phenotype in OMIM (MIM #182600; OMIM accessed on 13 October 2025) and with 'ATL1-related hereditary spastic paraplegia' phenotype on DD panel of Gene2Phenotype (with 'definitive' rating). There are five unrelated families reported with homozygous variants in ATL1 gene and with early-onset hereditary spastic paraplegia. Biallelic ATL1 variants have not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. This gene is rated green with the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on the 'Hereditary Spastic Paraplegia - paediatric' panel from PanelApp Australia (https://panelapp-aus.org/panels/317/gene/ATL1/). |
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| Childhood onset hereditary spastic paraplegia v8.17 | ATL1 | Achchuthan Shanmugasundram reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18446315, 22378671, 24473461, 25193411, 26888483, 34808209, 35925862, 37927245, 39003427; Phenotypes: Spastic paraplegia 3A, autosomal dominant, OMIM:182600, hereditary spastic paraplegia 3A, MONDO:0008437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.1 | ATL1 | Cassandra Smith reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24473461, 26888483, 37927245, 39003427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.19 | ATL1 | Achchuthan Shanmugasundram Publications for gene: ATL1 were set to 11685207; 15517445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.149 | ATL1 | Louise Daugherty Publications for gene: ATL1 were set to 11685207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.148 | ATL1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.75 | ATL1 | Louise Daugherty Source Yorkshire and North East GLH was added to ATL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.74 | ATL1 | Louise Daugherty commented on gene: ATL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.73 | ATL1 | Nick Beauchamp reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.48 | ATL1 | Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.6 | ATL1 | James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, 182600, autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.5 | ATL1 | Louise Daugherty Source NHS GMS was added to ATL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.4 | ATL1 | Louise Daugherty Source London North GLH was added to ATL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.3 | ATL1 | Louise Daugherty Added phenotypes Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant for gene: ATL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.76 | ATL1 | Louise Daugherty Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant to Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.75 | ATL1 | Louise Daugherty Publications for gene: ATL1 were set to PMID: 11685207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.62 | ATL1 | Arianna Tucci commented on gene: ATL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.6 | ATL1 |
Sarah Leigh gene: ATL1 was added gene: ATL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to PMID: 11685207 Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant |
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