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Inborn errors of metabolism

Gene: PEX11A

Red List (low evidence)

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

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

Ellen McDonagh (Genomics England Curator)

gene: PEX11A was added gene: PEX11A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PEX11A was set to Unknown Publications for gene: PEX11A were set to 25177298; 10716247; 25608554; 11839773 Phenotypes for gene: PEX11A were set to Zellweger syndrome; peroxisome proliferation; mild peroxisomal biogenesis defect