ALG14

ALG14, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 612866, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ALG14 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ALG14-congenital disorder of glycosylation, MONDO:0100559
Green ALG14 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 list Expert Review Green Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation
Green ALG14 in Mendeliome Version 1.3795	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation
Green ALG14 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.112 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation
Green ALG14 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.307 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Green ALG14 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Green ALG14 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Green ALG14 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Neuromuscular Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation
Green ALG14 in Fetal anomalies Version 1.481	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Red ALG14 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BeginNGS Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation Tags for review