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DDG2P

Gene: PPFIA3

Green List (high evidence)
PPFIA3 (PTPRF interacting protein alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000177380
EnsemblGeneIds (GRCh37): ENSG00000177380
OMIM: 603144, Gene2Phenotype
PPFIA3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PPFIA3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:38181735). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03539.
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 PPFIA3-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 38181735).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
Paul-Chao neurodevelopmental syndrome, OMIM:621122; MONDO:1040014; PPFIA3-related neurodevelopmental disorder

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PPFIA3-related neurodevelopmental disorder
Tags
de novo
OMIM
603144
Clinvar variants
Variants in PPFIA3
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: PPFIA3 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: PPFIA3.

28 Apr 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: PPFIA3.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: PPFIA3.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPFIA3 was added gene: PPFIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPFIA3 were set to 38181735 Phenotypes for gene: PPFIA3 were set to PPFIA3-related neurodevelopmental disorder Mode of pathogenicity for gene: PPFIA3 was set to Other