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Hereditary Neuropathy - complex

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Neuropathy as a feature of the conditon in 45% (9/14) families with an Egyptian founder variant ((c.1047_1049del p.(Gln349del)) and also in an additional proband.
Created: 14 Aug 2023, 5:15 a.m. | Last Modified: 14 Aug 2023, 5:15 a.m.
Panel Version: 0.272

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 23 Mar 2020, 4:38 a.m.
Last Modified: 23 Mar 2020, 4:38 a.m.
Panel version: 0.272

History Filter Activity

14 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

14 Aug 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PEX12 were set to 24627108

14 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PEX12 was added gene: PEX12 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX12 were set to 24627108 Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; HMSN