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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. |
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| 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 |
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