PAK3

p21 (RAC1) activated kinase 3
OMIM: 300142, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PAK3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 30, MIM# 300558
Green PAK3 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 30/47, MIM# 300558 Intellectual disability
Amber PAK3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 30 (MIM#300558)
Green PAK3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 30/47, MIM# 300558 Intellectual disability
Green PAK3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked 30/47, 300558 (3)
Green PAK3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mental retardation syndrome, X-linked
Green PAK3 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, X-linked 30/47, MIM# 300558 Agenesis of the corpus callosum
Green PAK3 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked 30/47, 300558 (3)
Red PAK3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Mental retardation syndrome, X-linked 30, MIM#300558
Green PAK3 in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked 30/47, 300558 (3)