Genes in panel

Inborn errors of metabolism

Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Based on comments from Julia Baptista (Royal Devon and Exeter NHS Foundation Trust) on https://panelapp.genomicsengland.co.uk/panels/114/gene/PEX6/
Heterozygous PEX6 variant(c.2578C>T [p.Arg860Trp]) is pathogenic when in cis with 3'UTR c.∗442_445delTAAA due to allelic expression imbalance.
Created: 20 Jul 2021, 12:27 p.m. | Last Modified: 20 Jul 2021, 12:27 p.m.
Panel Version: 2.152

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862; peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930; Peroxisome biogenesis disorder 4B OMIM:614863; peroxisome biogenesis disorder 4B MONDO:0013931

Publications

History Filter Activity

20 Jul 2021, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_MOI was removed from gene: PEX6.

20 Jul 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_MOI tag was added to gene: PEX6.

20 Jul 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX6 were set to 27604308; 29220678; 20301621

20 Jul 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX6 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862 to Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862; peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930; Peroxisome biogenesis disorder 4B OMIM:614863; peroxisome biogenesis disorder 4B MONDO:0013931

20 Jul 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX6 were set to 27604308

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PEX6. Source London North GLH was added to PEX6.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PEX6 was added gene: PEX6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 27604308 Phenotypes for gene: PEX6 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862