Early onset or syndromic epilepsy
Gene: PEX12
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted all PEX genes from Green to Amber.Created: 25 Nov 2019, 8:58 p.m. | Last Modified: 25 Nov 2019, 8:58 p.m.
Panel Version: 1.451
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR Perioxisome biogenesis disorder 3A and 3B. 3a: Konkol'ova et al 2015 - patient with Zellweger syndrome - seizures on 2nd day of life and died at 23 days - compound het for 2 diff fs variants inherited from unaff parents. Chang et al, 1997 - fs variants in 2 individuals with PBD3. Okumoto and Fujiki 1997 - hom nonsense mutation in cells from a patient with Zellweger syndrome. Okumoto et al, 1998 - distinct hom inctivating mutations in 2 unrelated patients with Zellweger. 3B - milder manifestation - don't appear to have seizure phenotype.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Comment when marking as ready: Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 4 cases.Created: 6 Aug 2018, 12:49 p.m.
Comment on phenotypes: Variants also reported in Peroxisome biogenesis disorder 3B 266510Created: 6 Aug 2018, 12:48 p.m.
Comment on phenotypes: Phenotype includes seizuresCreated: 6 Aug 2018, 12:47 p.m.
Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 4 cases.Created: 6 Aug 2018, 12:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 3A (Zellweger) 614859
Publications
Gene: pex12 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to PEX12.
Source NHS GMS was added to PEX12.
Sarah Leigh: Associated with phenotypes in
Gene: pex12 has been classified as Green List (High Evidence).
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger) 614859
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger) 614859
Gene: pex12 has been classified as Green List (High Evidence).
PEX12 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
PEX12 was created by Sarah Leigh