Neonatal cholestasis
Gene: PEX10Comment 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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellwegers syndrome; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: pex10 has been classified as Green List (High Evidence).
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871
Gene: pex10 has been classified as Amber List (Moderate Evidence).
Gene: pex10 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B
Mode of inheritance for gene: PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to PEX10. Panel: Cholestasis
PEX10 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
PEX10 was created by Ellen McDonagh