GMPPA

GDP-mannose pyrophosphorylase A
OMIM: 615495, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green GMPPA 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Green GMPPA in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alacrima, achalasia, and mental retardation syndrome, MIM# 615510
Amber GMPPA in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Green GMPPA 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
Green GMPPA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Red GMPPA in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital disorder of glycosylation
Green GMPPA in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.50	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME AAMR
Red GMPPA in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Green GMPPA in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Red GMPPA in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation