Severe microcephalyGene: PPIL1
Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient number of unrelated cases with relevant phenotype, supported by functional data.
Created: 22 Jan 2021, 5:07 p.m. | Last Modified: 22 Jan 2021, 5:07 p.m.
Panel Version: 2.80
Currently not associated with any phenotype in OMIM (last edited on: 10/07/2001) but has a 'probable' gene rating for 'PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly' in Gene2Phenotype.
- PMID: 33220177 (2021) - At least 12 variants identified in 17 individuals from 9 unrelated families. All displayed pontocerebellar hypoplasia and progressive congenital microcephaly (-4 to -8 SD HC). Further common phenotypes included hypotonia, seizures, intellectual disability with delayed language and motor development, and cortical changes on brain MRI, most notably simplified gyri pattern. Pathogenicity is supported by mouse model.
Created: 22 Jan 2021, 5:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Gene: ppil1 has been classified as Amber List (Moderate Evidence).
gene: PPIL1 was added gene: PPIL1 was added to Severe microcephaly. Sources: Literature for-review tags were added to gene: PPIL1. Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Review for gene: PPIL1 was set to GREEN