Amelogenesis imperfecta

Gene: PEX26

Amber List (moderate evidence)

PEX26 (peroxisomal biogenesis factor 26)
EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 20 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Leaving rating as amber for now, but with recommendation for green rating following GMS review. 3 cases now reported with a syndromic amelogenesis imperfecta phenotype.
Created: 19 Aug 2021, 12:56 p.m. | Last Modified: 19 Aug 2021, 12:56 p.m.
Panel Version: 2.14
As reported by Zornitza Stark, PMID:33926089 (Kim et al 2021) describes an 8 year old boy with amelogenesis imperfecta in permanent dentition as well as sensorineural hearing loss. WES of the patient and parents identified a homozygous mutation (c.506T>C, p. (Leu169Pro)) in the PEX26 gene. The mother and father were both asymptomatic carriers.
Created: 19 Aug 2021, 12:52 p.m. | Last Modified: 19 Aug 2021, 12:52 p.m.
Panel Version: 2.11

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Third family reported with Heimler syndrome phenotype, including amelogenesis imperfecta.
Created: 13 Aug 2021, 1:29 a.m. | Last Modified: 13 Aug 2021, 1:29 a.m.
Panel Version: 2.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heimler syndrome

Publications

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: At the time of curation, PEX26 is not yet linked to Heimler syndrome in OMIM.
Created: 23 Oct 2017, 12:35 p.m.
Comment on list classification: Updated rating from Grey to Amber: PEX26 was added to panel and rated Green by Claire Smith. Only 2 cases reported so far (PMID:28944237 and see Claire's review) so rated as Amber with 'watchlist' tag awaiting further cases.
Created: 23 Oct 2017, 12:32 p.m.
PMID:28944237 report 2 patients from 2 families diagnosed with 'Usher syndrome with additional abnormalities' with compound heterozyous PEX26 mutations. Both patients (a 14 year old boy, and a 4 year old girl) displayed enamel defects on deciduous teeth. The boy had amelogenesis imperfecta on permanent teeth. This is the first evidence linking PEX26 to Heimler syndrome.
Created: 23 Oct 2017, 12:24 p.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM.
Created: 23 Oct 2017, 11:55 a.m.

Claire Smith (University of Leeds)

Green List (high evidence)

PEX26 forms part of a complex with PEX1 and PEX6 and therefore has been a strong candidate gene for Heimler syndrome and therefore also syndromic amelogenesis imperfecta. Patients with PEX1 and PEX6 variants are often misdiagnosed with deafness or with Usher syndrome type II. Investigation of the enamel can discern Heimler syndrome from other syndromes of deaf-blindness. Two families with AI (as part of Heimler syndrome) and with PEX26 variants have been reported to date.
Created: 20 Oct 2017, 2:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
614872 Peroxisome biogenesis disorder 7A (Zellweger); 614873 Peroxisome biogenesis disorder 7B

Publications

History Filter Activity

19 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pex26 has been classified as Amber List (Moderate Evidence).

19 Aug 2021, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873; Heimler syndrome; Amelogenesis imperfecta; enamel dysplasia to Amelogenesis Imperfecta, MONDO:0019507; Heimler syndrome

19 Aug 2021, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PEX26 were set to 28944237

19 Aug 2021, Gel status: 2

Removed Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist was removed from gene: PEX26. Tag Q3_21_rating tag was added to gene: PEX26.

2 Feb 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

5 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

23 Oct 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873; Heimler syndrome; Amelogenesis imperfecta; enamel dysplasia

23 Oct 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

23 Oct 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873

23 Oct 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for PEX26 were set to 28944237

23 Oct 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for PEX26 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Oct 2017, Gel status: 0

Added New Source

Claire Smith (University of Leeds)

PEX26 was added to Amelogenesis Imperfectapanel. Sources: Literature,Expert Review

20 Oct 2017, Gel status: 0

Created

Claire Smith (University of Leeds)

PEX26 was created by Claire_Smith