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Mendeliome

Gene: PEX12

Green List (high evidence)

PEX12 (peroxisomal biogenesis factor 12)
EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 is in 18 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established association
Created: 28 Apr 2022, 11:29 a.m. | Last Modified: 28 Apr 2022, 11:29 a.m.
Panel Version: 0.13429

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510

History Filter Activity

29 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex12 has been classified as Green List (High Evidence).

29 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510

29 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX12 was added gene: PEX12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX12 was set to Unknown