Polymicrogyria and Schizencephaly
Gene: PEX19EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 14 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Accounts for ~0.6% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/) Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: LiteratureCreated: 26 Aug 2020, 8:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
- OMIM
- 600279
- Clinvar variants
- Variants in PEX19
- Penetrance
- None
- Publications
- Panels with this gene
-
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Cholestasis
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Cataract
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex19 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex19 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: PEX19 was added gene: PEX19 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX19 were set to 21031596 Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Review for gene: PEX19 was set to AMBER gene: PEX19 was marked as current diagnostic