Retinal disorders
Gene: PEX6The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
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
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
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 listCreated: 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
Tag Q1_22_MOI was removed from gene: PEX6.
Source NHS GMS was added to PEX6. Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678; 21937992
Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678
Penetrance for gene PEX6 was set from to None
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
Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595
Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q1_22_MOI tag was added to gene: PEX6.
Tag for-review was removed from gene: PEX6.
Source Expert Review Green was added to PEX6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pex6 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: PEX6.
Phenotypes for gene: PEX6 were changed from Heimler syndrome 2, MIM# 616617 to Heimler syndrome 2, OMIM:616617, MONDO:0014709
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