Polymicrogyria and Schizencephaly
Gene: PEX11BEnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Aware of another family tested through our service, but agree gene-disease association limited, and no specific reports of PMG.Created: 26 Aug 2020, 8:18 a.m. | Last Modified: 26 Aug 2020, 8:18 a.m.
Panel Version: 0.125
Ain Roesley (Victorian Clinical Genetics Services)
Accounts for ~0.1% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
PMID: 22581968;
Sinlge patient reported
Sources: LiteratureCreated: 26 Aug 2020, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Peroxisome biogenesis disorder 14B (MIM#614920)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- ?Peroxisome biogenesis disorder 14B (MIM#614920)
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Cataract
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex11b has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex11b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: PEX11B was added gene: PEX11B was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX11B were set to 22581968 Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (MIM#614920) Penetrance for gene: PEX11B were set to unknown Review for gene: PEX11B was set to RED