Mandibulofacial Acrofacial dysostosis
Gene: PRRX1

PRRX1 (paired related homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000116132
EnsemblGeneIds (GRCh37): ENSG00000116132
OMIM: 167420, Gene2Phenotype
PRRX1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 8 Aug 2021, 5:07 a.m.
Last Modified: 8 Aug 2021, 5:07 a.m.
Panel version: 1.0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Agnathia-otocephaly complex, MIM# 202650

OMIM

167420

Clinvar variants

Variants in PRRX1

Penetrance

None

Publications

Panels with this gene