PHKA2

phosphorylase kinase regulatory subunit alpha 2
OMIM: 300798, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red PHKA2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Glycogen storage disease, type IXa, 306000
Green PHKA2 in Glycogen Storage Diseases Level 2: Metabolic disorders Version 2.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PHKA2 in Mendeliome Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease, type IXa1 and a2, MIM# 306000
Red PHKA2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genetic Health Queensland Phenotypes Glycogen storage disease, type IXa1, MIM#306000
Green PHKA2 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Phosphorylase kinase deficiency
Green PHKA2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene Phenotypes Glycogen storage disease, type IXa1 and a2, MIM# 306000 Tags treatable metabolic