Early onset or syndromic epilepsy
Gene: NDP
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: Alison Callaway and John Taylor. Suggested gene rating: Red.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
This gene appears to be predominantly associated with Norrie disease / other ocular phenotypes. There was a single case report where seizures were reported in addition to Norrie disease but it is possible that these were co-incidental, PMID 17334993.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, biallelic mutations in females
Phenotypes
Norrie disease, 310600
Publications
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:26 p.m.
Seizures are a rare feature of this phenotype.Created: 17 Aug 2018, 9:19 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie disease, MIM#310600
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NDP.
Source NHS GMS was added to NDP.
Zornitza Stark: Seizures are a rare feature of
Gene: ndp has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to NDP. Panel: Genetic Epilepsy Syndromes
NDP was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDP was created by Sarah Leigh