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Retinal disorders

Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 24 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Retinal involvement is mentioned in Peroxisome biogenesis disorder 4B (OMIM:614863)(PMID:21937992; 22871920).
Created: 1 Apr 2022, 5:07 p.m. | Last Modified: 1 Apr 2022, 5:07 p.m.
Panel Version: 2.250
For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).
Created: 1 Apr 2022, 5:02 p.m. | Last Modified: 1 Apr 2022, 5:02 p.m.
Panel Version: 2.248
Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Created: 1 Apr 2022, 4:59 p.m. | Last Modified: 1 Apr 2022, 4:59 p.m.
Panel Version: 2.246

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Mode of pathogenicity
Other

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Created: 22 Jan 2021, 1:43 p.m. | Last Modified: 22 Jan 2021, 1:43 p.m.
Panel Version: 2.128

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum, is a rare autosomal recessive disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities, and retinitis pigmentosa. More than 5 unrelated families reported.
Sources: Expert list
Created: 13 Oct 2020, 7:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heimler syndrome 2, MIM# 616617

Publications

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

History Filter Activity

1 Apr 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678; 21937992

1 Apr 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678

1 Apr 2022, Gel status: 3

Set penetrance

Sarah Leigh (Genomics England Curator)

Penetrance for gene PEX6 was set from to None

1 Apr 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX6 were changed from Heimler syndrome 2, OMIM:616617, MONDO:0014709 to Heimler syndrome 2, OMIM:616617; MONDO:0014709; Peroxisome biogenesis disorder 4B, OMIM:614863

1 Apr 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595

1 Apr 2022, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

1 Apr 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: PEX6.

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: PEX6.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PEX6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pex6 has been classified as Amber List (Moderate Evidence).

22 Jan 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: PEX6.

7 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PEX6 were changed from Heimler syndrome 2, MIM# 616617 to Heimler syndrome 2, OMIM:616617, MONDO:0014709

13 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PEX6 was added gene: PEX6 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595 Phenotypes for gene: PEX6 were set to Heimler syndrome 2, MIM# 616617 Review for gene: PEX6 was set to GREEN gene: PEX6 was marked as current diagnostic