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