Neonatal cholestasis
Gene: PEX10EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 is in 20 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green, after discussion with the Genomics England clinical team that Zellweger genes (with enough evidence to be causative of Zellweger) should be included for this panel.Created: 8 Aug 2018, 4:49 p.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with phenotypes in OMIM and confirmed in Gen2Phen. At least 8 variants identified in at least 5 unrelated cases of Peroxisome biogenesis disorder 6B 614871, which presents as a mild phenotype and includes Increased bile acid intermediates (DHCA and THCA) and at least 4 variants in Peroxisome biogenesis disorder 6A (Zellweger) 614870 in at least 2 cases which includes hepatomegaly (according to Gen2Phen).Created: 25 Jul 2018, 2:14 p.m.
Comment on phenotypes: Phenotype of Peroxisome biogenesis disorder 6B includes increased bile acid intermediates (DHCA and THCA), and Peroxisome biogenesis disorder 6A (Zellweger) 614870 includes hepatomegaly (according to Gen2Phen), both of which could be relevant to this panel.Created: 25 Jul 2018, 2:05 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellwegers syndrome; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 6A (Zellweger) 614870
- Peroxisome biogenesis disorder 6B 614871
- OMIM
- 602859
- Clinvar variants
- Variants in PEX10
- Penetrance
- None
- Panels with this gene
-
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Structural eye disease
- Fetal anomalies
- Likely inborn error of metabolism
- Ductal plate malformation
- Hereditary neuropathy or pain disorder
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Early onset or syndromic epilepsy
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
Ellen McDonagh (Genomics England Curator)Gene: pex10 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex10 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex10 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX10. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX10 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX10 was created by Ellen McDonagh