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Intellectual disability

Gene: ERMARD

Amber List (moderate evidence)

ERMARD (ER membrane associated RNA degradation)
EnsemblGeneIds (GRCh38): ENSG00000130023
EnsemblGeneIds (GRCh37): ENSG00000130023
OMIM: 615532, Gene2Phenotype
ERMARD is in 3 panels

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single affected individual described in heterozygous missense in this gene; rest of evidence is based on cytogenetic data.
Created: 2 Feb 2020, 4:55 a.m. | Last Modified: 2 Feb 2020, 4:55 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia 6, MIM#615544

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

This is a possible DD gene in Gene2Phenotype for PERIVENTRICULAR HETEROTOPIA. PMID 24056535 reports a patient with periventricular nodular heterotopia, developmental delay and epilepsy with a de novo missense variant in this gene. PMID: 24736736 describes 7 patients with structural brain abnormalities all with deletions involving chromosome 6q27 with a smallest region of overlap containing four genes including ERMARD. PMID: 27087860 describes a fetus diagnosed with ventriculomegaly with a 0.78-Mb de novo deletion of chromosomal region 6q27, but excluding two of the previously reported four genes in the minimal region, and arguing for further evidence that ERMARD is involved.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Red
Tags
watchlist
OMIM
615532
Clinvar variants
Variants in ERMARD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

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: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to ERMARD. Panel: Intellectual disability Publications for gene ERMARD was set to ['27087860', '24736736', '24056535']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERMARD was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERMARD was created by ellenmcdonagh