Intellectual disability
Gene: PPFIA3

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

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are 17 unrelated individuals with heterozygous PPFIA3 variants and 1 patient with biallelic PPFIA3 variants, presenting with a syndromic neurodevelopmental disorder. Intellectual disability and/or developmental delay were the presenting features in majority of cases. Based on available evidence this gene should be promoted to Green for Intellectual disability.
Created: 17 Feb 2026, 10:49 a.m. | Last Modified: 17 Feb 2026, 10:50 a.m.

Panel Version: 9.263

PMID: 38181735 Paul et al., 2024
20 individuals from 18 families with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy. ID/GDD was a presenting feature in 18/20 individuals; 6/20 individuals had epilepsy (see suppl data).
Sources: Literature
Created: 17 Feb 2026, 10:42 a.m. | Last Modified: 17 Feb 2026, 10:50 a.m.

Panel Version: 9.263

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paul-Chao neurodevelopmental syndrome, OMIM:621122

Publications

38181735

Created: 17 Feb 2026, 10:42 a.m.
Last Modified: 17 Feb 2026, 10:50 a.m.
Panel version: 9.262

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature

Phenotypes

Paul-Chao neurodevelopmental syndrome, OMIM:621122

Tags

Q1_26_promote_green

OMIM

603144

Clinvar variants

Variants in PPFIA3

Penetrance

None

Publications

38181735

Panels with this gene

History Filter Activity

17 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: ppfia3 has been classified as Amber List (Moderate Evidence).

17 Feb 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: PPFIA3 was added gene: PPFIA3 was added to Intellectual disability. Sources: Literature Q1_26_promote_green tags were added to gene: PPFIA3. Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPFIA3 were set to 38181735 Phenotypes for gene: PPFIA3 were set to Paul-Chao neurodevelopmental syndrome, OMIM:621122 Review for gene: PPFIA3 was set to GREEN

Intellectual disability Gene: PPFIA3