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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. PPIL1
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Cerebellar and Pontocerebellar Hypoplasia

Gene: PPIL1

Green List (high evidence)
PPIL1 (peptidylprolyl isomerase like 1)
EnsemblGeneIds (GRCh38): ENSG00000137168
EnsemblGeneIds (GRCh37): ENSG00000137168
OMIM: 601301, Gene2Phenotype
PPIL1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 10 Dec 2020, 4:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures

Publications

Created: 10 Dec 2020, 4:53 a.m.

Panel version: 1.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 14, MIM# 619301
  • microcephaly
  • seizures
OMIM
601301
Clinvar variants
Variants in PPIL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures

10 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppil1 has been classified as Green List (High Evidence).

10 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppil1 has been classified as Green List (High Evidence).

10 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPIL1 was added gene: PPIL1 was added to Cerebellar and Pontocerebellar Hypoplasia. 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 Review for gene: PPIL1 was set to GREEN