Syndromic Retinopathy
Gene: PEX26EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 20 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
Multiple families reportedCreated: 28 Apr 2022, 11:57 a.m. | Last Modified: 28 Apr 2022, 11:57 a.m.
Panel Version: 0.13429
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872; Peroxisome biogenesis disorder 7B - MIM#614873
Publications
Bryony Thompson (Royal Melbourne Hospital)
Two cases reported with retinitis pigmentosa as a feature of the condition.
Sources: Expert listCreated: 25 May 2020, 2:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM#614873
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
- Peroxisome biogenesis disorder 7B MIM#614873
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Cataract
- Usher Syndrome
- Syndromic Retinopathy
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pex26 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pex26 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PEX26 was added gene: PEX26 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX26 were set to 28944237 Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM#614873 Review for gene: PEX26 was set to AMBER