Early onset or syndromic epilepsy

Gene: NDP

I don't know

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

Red List (low evidence)

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

• 17334993
• 27217716

Comment when marking as ready: Based on reviewers' comments.

Created: 11 Dec 2018, 1:26 p.m.

I don't know

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