Neonatal cholestasis
Gene: PEX6EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: biallelic and monoallelic variants reported in Peroxisome biogenesis disorder 4B 614863, but this phenotype is not relevant to this panelCreated: 13 Aug 2018, 2:31 p.m.
Comment on phenotypes: Variants also associated with Peroxisome biogenesis disorder 4B 614863 and Heimler syndrome 2 616617Created: 13 Aug 2018, 2:30 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellwegers syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 4A (Zellweger) 614862
- OMIM
- 601498
- Clinvar variants
- Variants in PEX6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Amelogenesis imperfecta
- Peroxisomal disorders
- Retinal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex6 has been classified as Green List (High Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) 614862
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX6 were set to 8670792; 8940266; 10408779
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX6. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX6 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX6 was created by Ellen McDonagh