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Genetic Epilepsy v2.0 SLC31A1 Gene migrated from ENSG00000136868 to ENSG00000136868 (gene set migration)
Genetic Epilepsy v1.265 SLC31A1 Zornitza Stark Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171; 41040850
Genetic Epilepsy v1.265 SLC31A1 Zornitza Stark Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Green List (high evidence)
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Green List (high evidence)
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.263 SLC31A1 Rylee Peters reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41040850; Phenotypes: Neurodegeneration and seizures due to copper transport defect MIM#620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1836 SLC31A1 Zornitza Stark Phenotypes for gene: SLC31A1 were changed from Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) to Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Genetic Epilepsy v0.1835 SLC31A1 Zornitza Stark Publications for gene: SLC31A1 were set to PMID: 35913762
Genetic Epilepsy v0.1834 SLC31A1 Zornitza Stark reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1826 SLC31A1 Alison Yeung Classified gene: SLC31A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1826 SLC31A1 Alison Yeung Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1825 SLC31A1 Alison Yeung Classified gene: SLC31A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1825 SLC31A1 Alison Yeung Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1824 SLC31A1 Daniel Flanagan edited their review of gene: SLC31A1: Added comment: Homozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.; Changed rating: AMBER; Changed publications: PMID: 35913762, 36562171
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Marked gene: SLC31A1 as ready
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Red List (low evidence)
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1654 SLC31A1 Daniel Flanagan gene: SLC31A1 was added
gene: SLC31A1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to PMID: 35913762
Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)
Review for gene: SLC31A1 was set to RED
Added comment: SLC31A1 is also referred to as CTR1.
Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality.
Sources: Expert list