PRRX1

paired related homeobox 1
OMIM: 167420, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PRRX1 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis, MONDO:0015469, PRRX1-related

Green PRRX1 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.9

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Agnathia-otocephaly complex, MIM# 202650

Green PRRX1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Agnathia-otocephaly complex, MIM# 202650

Green PRRX1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red PRRX1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Agnathia-otocephaly complex, MIM#202650

Red PRRX1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Agnathia-otocephaly complex

Green PRRX1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Agnathia-otocephaly complex, MIM# 202650

Red PRRX1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Agnathia-otocephaly complex