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Fetal anomalies

Gene: PPFIBP1

Green List (high evidence)

PPFIBP1 (PPFIA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000110841
EnsemblGeneIds (GRCh37): ENSG00000110841
OMIM: 603141, Gene2Phenotype
PPFIBP1 is in 5 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Fetal microcephaly and IUGR are reported features.
Sources: Literature
Created: 3 Feb 2025, 3:17 a.m. | Last Modified: 3 Feb 2025, 3:18 a.m.
Panel Version: 1.307

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024
OMIM
603141
Clinvar variants
Variants in PPFIBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: ppfibp1 has been classified as Green List (High Evidence).

3 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: ppfibp1 has been classified as Green List (High Evidence).

3 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: ppfibp1 has been classified as Green List (High Evidence).

3 Feb 2025, Gel status: 1

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: PPFIBP1 was added gene: PPFIBP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to PMID: 35830857; PMID: 37229200 Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024 Review for gene: PPFIBP1 was set to GREEN