Peroxisomal Disorders
Gene: PEX14EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Amber for the mono allelic association for now.Created: 3 Aug 2023, 2:34 a.m. | Last Modified: 3 Aug 2023, 2:34 a.m.
Panel Version: 0.43
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Lilian Downie (Victorian Clinical Genetics Services)
Good evidence for biallelic variants causing Zellweger spectrum disorders.
2 unrelated male patients with clinical features of mild ZSD (including mildly aberrant peroxisomal metabolite levels and aberrent VLCFA in fibroblasts) were found to have monoallelic de novo variants. Both variants affect splicing and result in the synthesis of similar C-terminally truncated PEX14 proteins. Functional studies showed that the truncated PEX14 proteins have a dominant-negative effect on peroxisome functioning.Created: 3 Aug 2023, 2:30 a.m. | Last Modified: 3 Aug 2023, 2:30 a.m.
Panel Version: 0.43
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Publications
- PMID: 37493040
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
- OMIM
- 601791
- Clinvar variants
- Variants in PEX14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PEX14 were changed from peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex14 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PEX14 were changed from to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PEX14 were set to 37493040
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PEX14 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PEX14 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PEX14 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PEX14 was added gene: PEX14 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX14 was set to Unknown