Early onset or syndromic epilepsy
Gene: WDR45
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: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
XLD neurodegeneration with brain iron accumulation - seizures seen in some patients. Missense, nonsense, splicing del/dup variants reported - several cases on HGMD association with epilepsy and seizures (11/78)Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Neurodegeneration with brain iron accumulation, 300894
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: X-linked dominant confirmed on G2P and OMIM.Created: 29 Jan 2016, 11:54 a.m.
Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5, 300894
Publications for gene: WDR45 were set to Saitsu et al (2013) Nat Genet. 45(4):445-9
Source Wessex and West Midlands GLH was added to WDR45.
Source NHS GMS was added to WDR45.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to WDR45. Panel: Genetic Epilepsy Syndromes
WDR45 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
WDR45 was created by Sarah Leigh