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  3. PPFIA2
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Fetal anomalies

Gene: PPFIA2

Red List (low evidence)
PPFIA2 (PTPRF interacting protein alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000139220
EnsemblGeneIds (GRCh37): ENSG00000139220
OMIM: 603143, Gene2Phenotype
PPFIA2 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

single paper with 9 individuals. Largely an ID disorder, but ONE had 'coarsened gyration and plumped corpus callosum' age 3
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
OMIM
603143
Clinvar variants
Variants in PPFIA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: PPFIA2 was added gene: PPFIA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PPFIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPFIA2 were set to 41044885 Phenotypes for gene: PPFIA2 were set to neurodevelopmental disorder, MONDO:0700092