Leukodystrophy - paediatric
Gene: SLC25A1
SLC25A1 (solute carrier family 25 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood.
Sources: Expert listCreated: 19 Jan 2020, 7:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Combined D-2- and L-2-hydroxyglutaric aciduria 615182
- OMIM
- 190315
- Clinvar variants
- Variants in SLC25A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Fetal anomalies
- Congenital Myasthenia
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
19 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC25A1 was added gene: SLC25A1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 29226520 Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Review for gene: SLC25A1 was set to RED