Likely inborn error of metabolism - targeted testing not possible
Gene: PEX5Comment on phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;Rhizomelic chondrodysplasia punctata, type 5 616716Created: 19 Sep 2019, 3:45 p.m. | Last Modified: 19 Sep 2019, 3:45 p.m.
Panel Version: 1.270
Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).Created: 19 Sep 2019, 3:43 p.m. | Last Modified: 19 Sep 2019, 3:43 p.m.
Panel Version: 1.269
Phenotypes for gene: PEX5 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger) to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger)
Gene: pex5 has been classified as Green List (High Evidence).
Source NHS GMS was added to PEX5. Source London North GLH was added to PEX5.
Ellen McDonagh: Comment on mode of pathogenici
gene: PEX5 was added gene: PEX5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 27604308 Phenotypes for gene: PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger)