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  3. PEX13
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Polymicrogyria and Schizencephaly

Gene: PEX13

Amber List (moderate evidence)
PEX13 (peroxisomal biogenesis factor 13)
EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 17 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Accounts for ~1.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature

PMID: 19449432;
- 1x ZSD proband with PMG
Sources: Literature
Created: 26 Aug 2020, 8:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)

Publications

Created: 26 Aug 2020, 8:32 a.m.

Panel version: 0.125

History Filter Activity

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex13 has been classified as Amber List (Moderate Evidence).

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex13 has been classified as Amber List (Moderate Evidence).

26 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: PEX13 was added gene: PEX13 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 21031596; 19449432 Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) Penetrance for gene: PEX13 were set to unknown Review for gene: PEX13 was set to AMBER