Ductal plate malformation

Gene: PEX12

Red List (low evidence)

PEX12 (peroxisomal biogenesis factor 12)
EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 is in 20 panels

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History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Confirmed to be a causative ge

12 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: PEX12 was added gene: PEX12 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B (266510); Peroxisome biogenesis disorder 3A (Zellweger) (614859)