Bilateral congenital or childhood onset cataracts
Gene: PEX6EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 panels
3 reviews
Sarah Leigh (Genomics England Curator)
PEX6 is listed in Gene2Phenotype as a Definitive gene for Peroxisome biogenesis disorder 4B (OMIM:614863), citing Ratbi et al (PMID:26387595). The phenotype described in this article now has separate OMIM entry: Heimler syndrome 2, OMIM:616617.Created: 1 Apr 2022, 2:25 p.m. | Last Modified: 1 Apr 2022, 2:25 p.m.
Panel Version: 2.102
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heimler syndrome 2 OMIM:616617
Publications
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and is a Confirmed DD gene for ZELLWEGER SYNDROME.Created: 29 Apr 2016, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Heimler syndrome 2, OMIM:616617
- OMIM
- 601498
- Clinvar variants
- Variants in PEX6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia with onset in adulthood
- Fetal hydrops
- Fetal anomalies
- Adult onset leukodystrophy
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- Amelogenesis imperfecta
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Cholestasis
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME; Peroxisome biogenesis disorder to Heimler syndrome 2, OMIM:616617
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX6 were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME;Peroxisome biogenesis disorder
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX6 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()PEX6 was added to Cataractspanel. Sources: UKGTN