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  2. Polymicrogyria and Schizencephaly
  3. PEX1
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Polymicrogyria and Schizencephaly

Gene: PEX1

Green List (high evidence)
PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Accounts for ~60.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Created: 26 Aug 2020, 7:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)

Publications

Created: 26 Aug 2020, 7:43 a.m.

Panel version: 0.118

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex1 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex1 has been classified as Green List (High 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: PEX1 was added gene: PEX1 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 21031596 Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100) Penetrance for gene: PEX1 were set to unknown Review for gene: PEX1 was set to GREEN