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Intellectual disability

Gene: PPIL1

Amber List (moderate evidence)

PPIL1 (peptidylprolyl isomerase like 1)
EnsemblGeneIds (GRCh38): ENSG00000137168
EnsemblGeneIds (GRCh37): ENSG00000137168
OMIM: 601301, Gene2Phenotype
PPIL1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. 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.

At least 12 variants identified in 17 individuals from 9 unrelated families (PMID: 33220177). All displayed pontocerebellar hypoplasia and congenital microcephaly. Severe ID, with or without seizures, was noted in all subjects (14) where information was provided (see table S1). Pathogenicity is supported by animal model.

Sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
Created: 22 Jan 2021, 4:46 p.m. | Last Modified: 22 Jan 2021, 4:46 p.m.
Panel Version: 3.728

Zornitza Stark (Australian Genomics)

Green List (high evidence)

17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Created: 7 Jan 2021, 7:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia; microcephaly; seizures; intellectual disbility

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Tags
for-review
OMIM
601301
Clinvar variants
Variants in PPIL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PPIL1.

22 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ppil1 has been classified as Amber List (Moderate Evidence).

22 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures; intellectual disbility to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

7 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PPIL1 was added gene: PPIL1 was added to Intellectual disability. Sources: Literature 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 Pontocerebellar hypoplasia; microcephaly; seizures; intellectual disbility Review for gene: PPIL1 was set to GREEN