As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
removed watch list tag as this gene was upgraded to Green in Oct 2017
Created: 29 Jul 2019, 2:41 p.m. | Last Modified: 29 Jul 2019, 2:41 p.m.
Panel Version: 1.33
Comment on list classification: Updated rating from Amber to Green after agreement from Arianna Tucci: 3rd Hydrocephalus case reported in PMID:28556411 since last review. Now a total of 3 hydrocephalus published cases with EML1 variants to support causation.
Created: 24 Oct 2017, 3:20 p.m.
PMID:28556411 (2017) present a 3rd case: they identify a homozygous truncating variant (NM_004434.2:c.1567C>T, p.Arg523*) in EML1 in a 2-year-old girl with congenital hydrocephalus, profound global developmental delay and intractable epilepsy.
Created: 24 Oct 2017, 3:17 p.m.
Only two unrelated families to date and no clear functional work
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag watchlist was removed from gene: EML1.
Source NHS GMS was added to EML1.
Publications for EML1 were set to 24859200; 28556411
This gene has been classified as Green List (High Evidence).
Phenotypes for EML1 were set to Band heterotopia, 600348
31.05.2017 - panel revised after internal curation and clinical review.
EML1 was added to Hydrocephaluspanel. Source: Expert Review Amber
EML1 was created by helen.brittain
EML1 was added to Hydrocephaluspanel. Sources: Literature