UGGT1

UDP-glucose glycoprotein glucosyltransferase 1
OMIM: 605897, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green UGGT1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.233	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Green UGGT1 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.80 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Green UGGT1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.510	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Green UGGT1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.27	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Green UGGT1 in Mendeliome Version 1.3795	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Green UGGT1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.375	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Amber UGGT1 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.100 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Green UGGT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.307 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381
Green UGGT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381