06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDE1
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDE1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDE1
Rebecca Foulger Source NHS GMS was added to NDE1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDE1
Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NDE1
Tracy Lester reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22523559, 30637988 ; Phenotypes: ?Microhydranencephaly, 605013, Lissencephaly 4 (with microcephaly), 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Nov 2018
Early onset or syndromic epilepsy v0.1163
NDE1
Ivone Leong Marked gene: NDE1 as ready
26 Nov 2018
Early onset or syndromic epilepsy v0.1163
NDE1
Ivone Leong Gene: nde1 has been classified as Green List (High Evidence).
26 Nov 2018
Early onset or syndromic epilepsy v0.1163
NDE1
Ivone Leong Classified gene: NDE1 as Green List (high evidence)
26 Nov 2018
Early onset or syndromic epilepsy v0.1163
NDE1
Ivone Leong Added comment: 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.
26 Nov 2018
Early onset or syndromic epilepsy v0.1163
NDE1
Ivone Leong Gene: nde1 has been classified as Green List (High Evidence).
26 Nov 2018
Early onset or syndromic epilepsy v0.1162
NDE1
Ivone Leong Publications for gene: NDE1 were set to
26 Nov 2018
Early onset or syndromic epilepsy v0.1156
NDE1
Ivone Leong Mode of inheritance for gene: NDE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
26 Nov 2018
Early onset or syndromic epilepsy v0.1154
NDE1
Ivone Leong Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), 614019
17 Aug 2018
Early onset or syndromic epilepsy
NDE1
Zornitza Stark reviewed gene: NDE1
25 Jun 2018
Early onset or syndromic epilepsy
NDE1
Sarah Leigh Added gene to panel