SLC25A1

solute carrier family 25 member 1
OMIM: 190315, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SLC25A1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC25A1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Green SLC25A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072
Green SLC25A1 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Green SLC25A1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC25A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Red SLC25A1 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Green SLC25A1 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes ?Myasthenic syndrome, congenital, 23, presynaptic 618197
Green SLC25A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Red SLC25A1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Myasthenic syndrome, congenital, 23, presynaptic MIM#618197 Combined D-2- and L-2-hydroxyglutaric aciduria MIM#615182
Green SLC25A1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
Amber SLC25A1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BeginNGS Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 Tags for review neurological
Green SLC25A1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197