Early onset or syndromic epilepsy
Gene: QDPR
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
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.
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
Gene: qdpr has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 to Hyperphenylalaninemia, BH4-deficient, C, 261630; DHPR deficiency
Publications for gene: QDPR were set to 9341885; 26006720
Source Wessex and West Midlands GLH was added to QDPR.
Source NHS GMS was added to QDPR.
Zornitza Stark: Seizures are part of the pheno
Gene: qdpr has been classified as Green List (High Evidence).
Gene: qdpr has been classified as Green List (High Evidence).
Publications for gene: QDPR were set to
Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, 261630
Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to QDPR. Panel: Genetic Epilepsy Syndromes
QDPR was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
QDPR was created by Sarah Leigh