PHKG2

phosphorylase kinase catalytic subunit gamma 2
OMIM: 172471, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PHKG2 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes hepatomegaly and variable myopathy Glycogen storage disease IXc, 613027 Cirrhosis due to liver phosphorylase kinase deficiency Glycogen Storage Disorders- Liver Glycogen Storage Disease
Green PHKG2 in Glycogen storage disease Version 2.4 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH London North GLH Expert Review Green Phenotypes Glycogen storage disease IXc 613027
Green PHKG2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) hepatomegaly and variable myopathy Glycogen storage disease IXc, 613027 Cirrhosis due to liver phosphorylase kinase deficiency Glycogen Storage Disorders- Liver Glycogen Storage Disease
Green PHKG2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen storage disease IXc, 613027 Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) Cirrhosis due to liver phosphorylase kinase deficiency
Red PHKG2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Red PHKG2 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green PHKG2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Glycogen storage disease IXc, 613027 Cirrhosis due to liver phosphorylase kinase deficiency