Early onset or syndromic epilepsy
Gene: PEX12

PEX12 (peroxisomal biogenesis factor 12)
EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 is in 19 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.451

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

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 266510
Created: 6 Aug 2018, 12:48 p.m.

Comment on phenotypes: Phenotype includes seizures
Created: 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

Created: 6 Aug 2018, 12:46 p.m.

Panel version: 0.310

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Wessex and West Midlands GLH
NHS GMS
Literature

Phenotypes

Peroxisome biogenesis disorder 3A (Zellweger) 614859

OMIM

601758

Clinvar variants

Variants in PEX12

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pex12 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PEX12.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PEX12.

11 Dec 2018, Gel status: 3