Polymicrogyria and Schizencephaly
Gene: PEX6EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 20 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Variants in this gene account for 14.5% of Zellweger Spectrum Disorder patients according to GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1448/) Genetic spectrum of 77 patients reviewed in PMID: 19877282.
PMID: 26700162, 22894767, and 28452594 describe three patients with polymicrogyria. Did not look further for others but they possibly exist.
Sources: LiteratureCreated: 26 Aug 2020, 6:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
- OMIM
- 601498
- Clinvar variants
- Variants in PEX6
- 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
- Genetic Epilepsy
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Cataract
- Usher Syndrome
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: pex6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: pex6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: PEX6 was added gene: PEX6 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 21031596; 9877282; 26700162 Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Review for gene: PEX6 was set to GREEN gene: PEX6 was marked as current diagnostic