Mandibulofacial Acrofacial dysostosis
Gene: PRRX1
Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.
Three unrelated individuals reported with heterozygous LoF variants, one family with bi-allelic variants.Created: 8 Aug 2021, 5:07 a.m. | Last Modified: 8 Aug 2021, 5:07 a.m.
Panel Version: 0.75
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Agnathia-otocephaly complex, MIM# 202650
Publications
Phenotypes for gene: PRRX1 were changed from Agnathia-otocephaly complex, MIM# 202650 to Agnathia-otocephaly complex, MIM# 202650
Gene: prrx1 has been classified as Green List (High Evidence).
Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM# 202650
Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262
Publications for gene: PRRX1 were set to
Mode of inheritance for gene: PRRX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: PRRX1 was added gene: PRRX1 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRRX1 was set to Unknown