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Intellectual disability syndromic and non-syndromic

Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 20 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PBD - 4A: more severe disease w/ PTCs, null or minimal activity

PBD – 4B: Recurring missense (p.R860W) causes AD disease. Disease depends on if a common UTR variant controlling allelic imbalance is het.

ID/DD is part of the Zellweger spectrum
Created: 14 Nov 2024, 1:34 a.m. | Last Modified: 14 Nov 2024, 1:34 a.m.
Panel Version: 0.6683

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger) MIM#614862; Peroxisome biogenesis disorder 4B MIM#614863

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pex6 has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PEX6 were set to

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger) MIM#614862; Peroxisome biogenesis disorder 4B MIM#614863

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PEX6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX6 was added gene: PEX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX6 was set to Unknown