SLC35A2

solute carrier family 35 member A2
OMIM: 314375, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SLC35A2 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.48 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Tags somatic
Green SLC35A2 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896)
Red SLC35A2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, type IIm, MIM#300896
Green SLC35A2 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854 Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Tags somatic
Green SLC35A2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854 Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Green SLC35A2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Red SLC35A2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene Phenotypes Early-onset epileptic encephalopathy
Green SLC35A2 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896)
Green SLC35A2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category C gene Phenotypes Congenital disorder of glycosylation, type IIm, MIM #300896 Tags treatable metabolic