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Undiagnosed metabolic disorders

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
Phenotypes
  • Zellweger syndrome
  • peroxisome proliferation
  • mild peroxisomal biogenesis defect
Tags
watchlist
OMIM
603866
Clinvar variants
Variants in PEX11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PEX11A was added to Undiagnosed metabolic disorders panel. Sources: Literature

23 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

PEX11A was created by Louise Daugherty