Malformations of cortical development
Gene: EML1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). EML1 is associated with a relevant phenotype in OMIM (MIM# 600348) but is not yet listed in G2P. Animal models and sufficient number of unrelated cases (>3) with relevant phenotype (periventricular and ribbon-like subcortical heterotopia with polymicrogyria) and variants in this gene to rate as Green at the next GMS panel update.Created: 8 Sep 2021, 3:44 p.m. | Last Modified: 8 Sep 2021, 3:44 p.m.
Panel Version: 2.82
PMID: 31710781; Review of 5 families with patients characterised by severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging of 4 patients, there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation.
Sources: Expert listCreated: 27 Aug 2020, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia (MIM# 600348)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: EML1.
Source Expert Review Green was added to EML1. Source NHS GMS was added to EML1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: EML1 were set to 31710781
Tag Q3_21_rating tag was added to gene: EML1.
Gene: eml1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: EML1 were changed from Band heterotopia (MIM# 600348) to Band heterotopia, OMIM:600348
gene: EML1 was added gene: EML1 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EML1 were set to 31710781 Phenotypes for gene: EML1 were set to Band heterotopia (MIM# 600348) Review for gene: EML1 was set to GREEN gene: EML1 was marked as current diagnostic