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Mitochondrial disease v0.946 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.944 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.942 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Mitochondrial disease v0.941 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.940 SLC25A12 Zornitza Stark changed review comment from: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.; to: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.

The SLC25A12 gene encodes aralar, a protein that functions in the transport of aspartate from mitochondria to cytosol in exchange for glutamate. Aralar also plays a role in the transfer of cytosolic reducing equivalents into mitochondria as a member of the malate-aspartate NADH shuttle.
Mitochondrial disease v0.459 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.458 SLC25A10 Zornitza Stark reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Marked gene: SLC25A10 as ready
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Classified gene: SLC25A10 as Amber List (moderate evidence)
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.233 SLC25A10 Bryony Thompson gene: SLC25A10 was added
gene: SLC25A10 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A10 were set to 29211846
Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy
Review for gene: SLC25A10 was set to AMBER
Added comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability
Sources: NHS GMS
Mitochondrial disease v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A19 was set to Unknown
Mitochondrial disease v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A12 was set to Unknown
Mitochondrial disease v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A1 was set to Unknown