PHKA2

phosphorylase kinase regulatory subunit alpha 2
OMIM: 300798, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PHKA2 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.4	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes hepatomegaly and mild hypoglycaemia Glycogen storage disease, type IXa1, 306000 Glycogen storage disease, type IXa2, 306000 Glycogen Storage Disorders- Liver Glycogen Storage Disease
Green PHKA2 in Glycogen storage disease Version 1.4 Signed off v.1.2 on 18 Feb 2020	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Wessex and West Midlands GLH London North GLH Expert Review Green Phenotypes Glycogen storage disease, type IXa2 306000 Glycogen storage disease, type IXa1 306000
Green PHKA2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.422	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) hepatomegaly and mild hypoglycaemia Glycogen storage disease, type IXa1, 306000 Glycogen storage disease, type IXa2, 306000 Glycogen Storage Disorders- Liver Glycogen Storage Disease
Green PHKA2 in Inborn errors of metabolism Version 2.22 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease, type IXa2, 306000 Glycogen storage disease, type IXa1, 306000 hepatomegaly and mild hypoglycaemia Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
Red PHKA2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.363 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	Not set	Sources Victorian Clinical Genetics Services
Red PHKA2 in Childhood onset dystonia or chorea or related movement disorder Version 1.57 Signed off v.1.48 on 20 Aug 2020	review	Not set	Sources Expert Review Red London North GLH
Green PHKA2 in Severe Paediatric Disorders Version 1.11	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Glycogen storage disease, type IXa1, 306000 Glycogen storage disease, type IXa2, 306000