PQBP1

polyglutamine binding protein 1
OMIM: 300463, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red PQBP1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Renpenning syndrome, MIM#309500
Green PQBP1 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 Renpenning syndrome, MIM#309500
Green PQBP1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renpenning syndrome, MIM# 309500
Green PQBP1 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 Renpenning syndrome, MIM#309500
Green PQBP1 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 Renpenning syndrome, 309500 (3)
Green PQBP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mental retardation
Red PQBP1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Renpenning syndrome, 309500
Green PQBP1 in Fetal anomalies Version 1.313	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Renpenning syndrome, MIM#309500
Green PQBP1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Renpenning syndrome, 309500 (3)
Red PQBP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Renpenning syndrome, MIM#309500
Green PQBP1 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 Renpenning syndrome, 309500 (3)