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| Likely inborn error of metabolism - targeted testing not possible v1.270 | PEX5 | Sarah Leigh Added comment: Comment on phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;Rhizomelic chondrodysplasia punctata, type 5 616716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.270 | PEX5 | Sarah Leigh 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.269 | PEX5 | Sarah Leigh Marked gene: PEX5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.269 | PEX5 | Sarah Leigh Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.269 | PEX5 | Sarah Leigh Gene: pex5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX5 |
Ivone Leong Source NHS GMS was added to PEX5. Source London North GLH was added to PEX5. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX5 |
Ellen McDonagh 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) |
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