GNPTAB

N-acetylglucosamine-1-phosphate transferase alpha and beta subunits
OMIM: 607840, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GNPTAB in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucolipidosis II alpha/beta - MIM#252500
Green GNPTAB in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mucolipidosis II alpha/beta(I cell disease), MIM# 252500
Green GNPTAB in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GNPTAB in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GNPTAB in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis II alpha/beta, MIM# 252500 MONDO:0009650 Mucolipidosis III alpha/beta, MIM# 252600 MONDO:0018931
Green GNPTAB in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.13 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis II alpha/beta, MIM# 252500 MONDO:0009650 Mucolipidosis III alpha/beta, MIM# 252600 MONDO:0018931
Green GNPTAB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes GNPTAB-mucolipidosis MONDO:0100122
Green GNPTAB in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Mucolipidosis III alpha/beta 252600 Mucolipidosis II alpha/beta 252500
Green GNPTAB in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis III alpha/beta, 252600 (3)
Green GNPTAB in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucolipidosis II
Green GNPTAB in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mucolipidosis II alpha/beta MIM#252500 Mucolipidosis III alpha/beta MIM#252600
Green GNPTAB in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis III alpha/beta MIM#252600 Mucolipidosis II alpha/beta MIM#252500
Red GNPTAB in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650 Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931
Green GNPTAB in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis III alpha/beta, 252600 (3)