ALG13

ALG13, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 300776, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ALG13 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884)
Green ALG13 in Mendeliome Version 1.3512	1 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 Is (MIM# 300884)
Green ALG13 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 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 Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884)
Green ALG13 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 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 Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884)
Amber ALG13 in Fetal anomalies Version 1.465	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Developmental and epileptic encephalopathy.