Early onset or syndromic epilepsy
Gene: NDE1
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
16p13.11 deletion and NDE1 mutations. AR lissencephaly 4 with microcephaly. Bakircioglu et al, 2011 - 6 offspring from 3 consang families - 2 Pakistani and 1 Turkish. Seizures began by 3 months and evolved into complex partial and tonic-clonic seizures. 2 diff truncting mutations identified. Alkuraya et al, 2011 - 2 unrelated consang families from Saudi - first family - no seizures, 2nd family the boy developed seizures - not sure about sister. 2 truncating mutations identified. Tan et al, 2017 - table 1 - comparing phenotypes in all reported cases 7/9 families reported with seizures.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
?Microhydranencephaly, 605013; Lissencephaly 4 (with microcephaly), 614019
Publications
Comment on list classification: Promoted from amber to green. NDE1 is confirmed to be a causative gene of Lissencephaly by OMIM and Gene2Phenotype. Both sources list seizures as a phenotype of the disease. There are 3 papers (PMID:21529752, 21529751, 22526350) reporting on 5 unrelated families with 8 affected individuals who have Lissencephaly and have different variants in the NDE1 gene. All patients are of Pakistani, Turkish or Saudi Arabian descent.Created: 26 Nov 2018, 5:07 p.m.
Seizures are part of the phenotype of this brain development disorder.Created: 17 Aug 2018, 9:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 4 (with microcephaly), MIM#614019
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NDE1.
Source NHS GMS was added to NDE1.
Zornitza Stark: Seizures are part of the pheno
Gene: nde1 has been classified as Green List (High Evidence).
Gene: nde1 has been classified as Green List (High Evidence).
Publications for gene: NDE1 were set to
Mode of inheritance for gene: NDE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), 614019
Expert Review Amber was added to NDE1. Panel: Genetic Epilepsy Syndromes
NDE1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDE1 was created by Sarah Leigh