Mandibulofacial Acrofacial dysostosis

Gene: PRRX1

Green List (high evidence)

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

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

History Filter Activity

8 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRRX1 were changed from Agnathia-otocephaly complex, MIM# 202650 to Agnathia-otocephaly complex, MIM# 202650

8 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prrx1 has been classified as Green List (High Evidence).

8 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM# 202650

8 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262

8 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRRX1 were set to

8 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRRX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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