Likely inborn error of metabolism
Gene: PEX11A

PEX11A (peroxisomal biogenesis factor 11 alpha)
EnsemblGeneIds (GRCh38): ENSG00000166821
EnsemblGeneIds (GRCh37): ENSG00000166821
OMIM: 603866, Gene2Phenotype
PEX11A is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

added watchlist tag
Created: 23 Apr 2018, 2:02 p.m.

PEX11A belongs to the Peroxins gene family and is the only gene from this gene family missing. Although there is some data to suggest an association with the disorder Zellweger syndrome in model organisms Chinese hamster PMID:25177298 there is no confirmed gene-phenoype correlation
Created: 23 Apr 2018, 2:02 p.m.

Mode of inheritance
Unknown

Phenotypes
Zellweger syndrome; peroxisome proliferation; mild peroxisomal biogenesis defect

Publications

Created: 23 Apr 2018, 2:02 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 1.73

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Literature

Phenotypes

Zellweger syndrome
peroxisome proliferation
mild peroxisomal biogenesis defect

OMIM

603866

Clinvar variants

Variants in PEX11A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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