Neonatal cholestasis
Gene: PEX16EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with the relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases. Genomics England Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.Created: 13 Aug 2018, 11:54 a.m.
Comment on phenotypes: Variants also reported in Peroxisome biogenesis disorder 8B 614877Created: 13 Aug 2018, 10:32 a.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellweger syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 8A (Zellweger) 614876
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Ductal plate malformation
- Arthrogryposis
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
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: pex16 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX16 were set to 20681997; 9837814; 11890679
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex16 has been classified as Green List (High Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) 614876
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX16. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX16 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX16 was created by Ellen McDonagh