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DDG2P

Gene: PRRX1

Green List (high evidence)
PRRX1 (paired related homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000116132
EnsemblGeneIds (GRCh37): ENSG00000116132
OMIM: 167420, Gene2Phenotype
PRRX1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related agnathia-otocephaly complex are limited, monoallelic_autosomal and dominant negative (PMIDs: 21294718, 22211708, 22674740, 23444262, 37154149). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00249. The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related craniosynostosis are moderate, monoallelic_autosomal and undetermined (PMID:37154149). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02554. The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related agnathia-otocephaly complex are limited, biallelic_autosomal and undetermined (PMIDs: 22211708, 23444262). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02581.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease PRRX1-related craniosynostosis is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure;decreased gene product level and incomplete penetrance(PMID: 37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX monoallelic is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 22211708;22674740;21294718;23444262;37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 22211708;23444262).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 22211708;23444262). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX monoallelic is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 22211708;23444262).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
AGNATHIA-OTOCEPHALY COMPLEX monoallelic; MONDO:0008740; AGNATHIA-OTOCEPHALY COMPLEX biallelic; OMIM:202650.0; PRRX1-related craniosynostosis; MONDO:0015469; PRRX1-related agnathia-otocephaly complex

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P updated 09/01/2019. Rating remains as 'possible' for both 'AGNATHIA-OTOCEPHALY COMPLEX biallelic' and 'AGNATHIA-OTOCEPHALY COMPLEX monoallelic'. MOP remains as 'all missense/in frame' for both 'AGNATHIA-OTOCEPHALY COMPLEX biallelic' and 'AGNATHIA-OTOCEPHALY COMPLEX monoallelic'.
Created: 14 Jan 2019, 2:03 p.m.
Comment on phenotypes: Phenotypes updated based on DDG2P update 09/01/2019: 'AGNATHIA-OTOCEPHALY COMPLEX 202650' phenotype replaced.
Created: 14 Jan 2019, 2:02 p.m.
Original DDG2P rating: possible (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AGNATHIA-OTOCEPHALY COMPLEX biallelic
  • AGNATHIA-OTOCEPHALY COMPLEX monoallelic
OMIM
167420
Clinvar variants
Variants in PRRX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PRRX1 was changed from Other to None

26 Sep 2024, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PRRX1. Mode of inheritance for gene PRRX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene PRRX1 was changed from Other - please provide details in the comments to Other Publications for gene: PRRX1 were updated from 22211708; 23444262 to 23444262; 22211708

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

14 Jan 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PRRX1 were changed from AGNATHIA-OTOCEPHALY COMPLEX 202650 to AGNATHIA-OTOCEPHALY COMPLEX biallelic; AGNATHIA-OTOCEPHALY COMPLEX monoallelic

19 Nov 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes AGNATHIA-OTOCEPHALY COMPLEX 202650 for gene: PRRX1

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: PRRX1 was added gene: PRRX1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRX1 were set to 22211708; 23444262 Phenotypes for gene: PRRX1 were set to AGNATHIA-OTOCEPHALY COMPLEX 202650 Mode of pathogenicity for gene: PRRX1 was set to Other - please provide details in the comments