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| Early onset or syndromic epilepsy v3.96 | SLC31A1 | Achchuthan Shanmugasundram Classified gene: SLC31A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.96 | SLC31A1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as it has been associated with neurodegeneration involving seizures in two unrelated cases. This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM. |
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| Early onset or syndromic epilepsy v3.96 | SLC31A1 | Achchuthan Shanmugasundram Gene: slc31a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.95 | SLC31A1 | Achchuthan Shanmugasundram Publications for gene: SLC31A1 were set to 35913762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.94 | SLC31A1 | Achchuthan Shanmugasundram edited their review of gene: SLC31A1: Added comment: PMID:36562171 reported a newborn infant of consanguineous parents with a homozygous pathogenic variant p.Leu79Pro in CTR1. This infant was born with pulmonary hypoplasia. At two weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at one month of age.; Changed rating: AMBER; Changed publications to: 35913762, 36562171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.94 | SLC31A1 |
Achchuthan Shanmugasundram gene: SLC31A1 was added gene: SLC31A1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 35913762 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, MONDO:0700092; Epilepsy, MONDO:0005027 Review for gene: SLC31A1 was set to RED Added comment: This gene has been associated with seizures in an identical twin male infants identified with homozygous novel missense variant p.Arg95His in CTR1. The twins had hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Sources: Literature |
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