Microcephaly

Gene: PPFIBP1

Green List (high evidence)

16 individuals from 12 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model.

Previously reviewed as Green from Medrxiv paper, now published in a peer-reviewed journal.

Created: 4 Aug 2022, 6:33 a.m. | Last Modified: 4 Aug 2022, 6:33 a.m.

Panel Version: 1.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related

Publications

• PMID: 35830857

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

16 individuals from 10 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model.
Sources: Expert Review

Created: 5 May 2022, 1:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1