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Intellectual disability

Gene: EML1

Green List (high evidence)

EML1 (echinoderm microtubule associated protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000066629
EnsemblGeneIds (GRCh37): ENSG00000066629
OMIM: 602033, Gene2Phenotype
EML1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment when marking as ready: Marked as Ready: October 31st 2017. Green rating agreed by Arianna Tucci.
Created: 31 Oct 2017, 1:29 p.m.
Comment on list classification: Updated rating from Amber to Green following agreement from Arianna Tucci: 3 unrelated cases from the literature so just reaches threshold, and Arianna confirmed that pyschomotor delay is a relevant ID phenotype.
Created: 31 Oct 2017, 1:29 p.m.
Added gene to panel: Kielar et al (PMID:24859200, 2014) report 3 French brothers with severe DD and ID, and an unrelated Moroccan boy with congenital hydrocephalus, severe psychomotor delay and seizures. PMID:28556411 (Shaheen et al., 2017) identify a 3rd case: 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: 31 Oct 2017, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital hydrocephalus, profound global developmental delay and intractable epilepsy; Band heterotopia, 600348 (includes severe intellectual disability)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • congenital hydrocephalus, profound global developmental delay and intractable epilepsy
  • Band heterotopia, 600348 (includes severe intellectual disability)
OMIM
602033
Clinvar variants
Variants in EML1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

EML1 was added to Intellectual disability panel. Sources: Literature,Expert Review Green

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

EML1 was created by Ellen McDonagh