Activity
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| Hereditary spastic paraplegia, childhood onset v9.11 | ATP1A3 | Achchuthan Shanmugasundram Classified gene: ATP1A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.11 | ATP1A3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are nine unrelated cases reported with the same recurrent heterozygous variant and functional evidence available in support of the association of this gene with a novel disorder with spasticity and ID/ DD. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.11 | ATP1A3 | Achchuthan Shanmugasundram Gene: atp1a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.10 | ATP1A3 |
Achchuthan Shanmugasundram Tag Q3_26_NHS_review tag was added to gene: ATP1A3. Tag Q3_26_promote_green tag was added to gene: ATP1A3. |
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| Hereditary spastic paraplegia, childhood onset v9.10 | ATP1A3 | Achchuthan Shanmugasundram Phenotypes for gene: ATP1A3 were changed from spasticity; developmental delay; intellectual disability to Alternating hemiplegia of childhood 2, OMIM:614820; alternating hemiplegia of childhood 2, MONDO:0013900; Developmental and epileptic encephalopathy 99, OMIM:619606; developmental and epileptic encephalopathy 99, MONDO:0030473; Spasticity, HP:0001257; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.9 | ATP1A3 | Achchuthan Shanmugasundram Publications for gene: ATP1A3 were set to PMID: 37043503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.8 | ATP1A3 | Achchuthan Shanmugasundram reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37043503; Phenotypes: Alternating hemiplegia of childhood 2, OMIM:614820, alternating hemiplegia of childhood 2, MONDO:0013900, Developmental and epileptic encephalopathy 99, OMIM:619606, developmental and epileptic encephalopathy 99, MONDO:0030473, Spasticity, HP:0001257, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.6 | ATP1A3 |
Katherine Schon gene: ATP1A3 was added gene: ATP1A3 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to PMID: 37043503 Phenotypes for gene: ATP1A3 were set to spasticity; developmental delay; intellectual disability Penetrance for gene: ATP1A3 were set to Complete Review for gene: ATP1A3 was set to GREEN Added comment: Recurrent de novo pathogenic variant reported in nine individuals with childhood onset of phenotypes resembling complex hereditary spastic paraplegia or idiopathic spastic cerebral palsy. Sources: Literature |
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