Early onset or syndromic epilepsy

Gene: QDPR

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 from Green to Amber.

Created: 25 Nov 2019, 9:06 p.m. | Last Modified: 25 Nov 2019, 9:06 p.m.

Panel Version: 1.454

Seizures listed in the OMIM Clinical synopsis for 'Hyperphenylalaninemia, BH4-deficient, C' (MIM:261630).

Created: 21 Nov 2019, 3:59 p.m. | Last Modified: 21 Nov 2019, 3:59 p.m.

Panel Version: 1.420

Ikeda et al. (1997, PMID:9341885) report a Japanese boy with hyperphenylalaninemia and a splicing error variant in QDPR. He was the offspring of first-cousin parents. The patient showed intractable seizures and developmental delay.

Created: 21 Nov 2019, 3:56 p.m. | Last Modified: 21 Nov 2019, 3:56 p.m.

Panel Version: 1.420

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

I don't know

AR BH4-deficient hyperphenylalaninemia C - phenotype includes seizures. Lots of reported mutations and studies done especially population studies in consang populations. Foroozani et al, 2015 - 16 mutations detected - 10 novel, Lu et al, 2014. Early detection is good as treatment is available which can greatly lessen symptoms..

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia BH4-deficient, 261630

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported as in unrelated cases. PMID 26006720 reports seizures in 83% (20 cases) of Hyperphenylalaninemia, BH4-deficient, C, 261630.

Created: 26 Nov 2018, 2:12 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.

Created: 20 Aug 2018, 1:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, BH4-deficient, C, MIM#261630

Variants in this GENE are reported as part of current diagnostic practice