SLC13A5

solute carrier family 13 member 5
OMIM: 608305, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber SLC13A5 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Green SLC13A5 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392
Green SLC13A5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392
Green SLC13A5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392
Amber SLC13A5 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Epileptic encephalopathy, early infantile, 25 615905
Green SLC13A5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 25, 615905 (3)
Green SLC13A5 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Green SLC13A5 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392
Green SLC13A5 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Red SLC13A5 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 Tags for review