Hydrocephalus

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 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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

Rebecca Foulger (Genomics England curator)

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.

Helen Brittain (Genomics England Curator)

I don't know

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

Phenotypes
Band heterotopia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, 600348
OMIM
602033
Clinvar variants
Variants in EML1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: EML1.

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to EML1.

24 Oct 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for EML1 were set to 24859200; 28556411

24 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Oct 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for EML1 were set to Band heterotopia, 600348

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EML1 was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

EML1 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

EML1 was added to Hydrocephaluspanel. Sources: Literature