PGK1

phosphoglycerate kinase 1
OMIM: 311800, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PGK1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 Haemolytic anaemia Rhabdomyolysis Myopathy Juvenile Parkinsonism OMIM 300653
Green PGK1 in Glycogen Storage Diseases Level 2: Metabolic disorders Version 1.2 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392
Green PGK1 in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392
Green PGK1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392
Green PGK1 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency 300653 MONDO:0010392
Green PGK1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 (3)
Green PGK1 in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS Phenotypes Phosphoglycerate kinase 1 deficiency MIM# 300653
Green PGK1 in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 (3)
Green PGK1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 (3)