1. Panels
  2. Polymicrogyria and Schizencephaly
  3. PEX10
STRs in panel
Prev Next
Regions in panel
Prev Next

Polymicrogyria and Schizencephaly

Gene: PEX10

Amber List (moderate evidence)
PEX10 (peroxisomal biogenesis factor 10)
EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 is in 18 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Accounts for ~3.4% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Created: 26 Aug 2020, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)

Publications

Created: 26 Aug 2020, 8:03 a.m.

Panel version: 0.120

History Filter Activity

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex10 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: pex10 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: PEX10 was added gene: PEX10 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 21031596 Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870) Penetrance for gene: PEX10 were set to unknown Review for gene: PEX10 was set to AMBER