Polymicrogyria and Schizencephaly
Gene: PEX16EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 17 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Accounts for ~1.1% 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, 8:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
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 8A (Zellweger) MIM#614876
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Cataract
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Ataxia - paediatric
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex16 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex16 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: PEX16 was added gene: PEX16 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX16 were set to 21031596 Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Review for gene: PEX16 was set to AMBER gene: PEX16 was marked as current diagnostic