Hydrocephalus
Gene: EML1EnsemblGeneIds (GRCh38): ENSG00000066629
EnsemblGeneIds (GRCh37): ENSG00000066629
OMIM: 602033, Gene2Phenotype
EML1 is in 5 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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 2017Created: 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)
Only two unrelated families to date and no clear functional workCreated: 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, OMIM:600348
- OMIM
- 602033
- Clinvar variants
- Variants in EML1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: EML1 were changed from Band heterotopia, 600348 to Band heterotopia, OMIM:600348
Removed Tag
Louise Daugherty (Genomics England Curator)Tag watchlist was removed from gene: EML1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to EML1.
Set publications
Rebecca Foulger (Genomics England curator)Publications for EML1 were set to 24859200; 28556411
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for EML1 were set to Band heterotopia, 600348
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)EML1 was added to Hydrocephaluspanel. Source: Expert Review Amber
Created
Helen Brittain (Genomics England Curator)EML1 was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)EML1 was added to Hydrocephaluspanel. Sources: Literature