Callosome
Gene: ERMARD

ERMARD (ER membrane associated RNA degradation)
EnsemblGeneIds (GRCh38): ENSG00000130023
EnsemblGeneIds (GRCh37): ENSG00000130023
OMIM: 615532, Gene2Phenotype
ERMARD is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 1 Dec 2019, 7:38 p.m. | Last Modified: 1 Dec 2019, 7:38 p.m.

Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia 6, MIM#615544

Publications

Created: 1 Dec 2019, 7:38 p.m.
Last Modified: 1 Dec 2019, 7:38 p.m.
Panel version: Imported from Periventricular grey matter heterotopia_AustralianGenomics_VCGS panel version 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformation Flagship
Victorian Clinical Genetics Services

Phenotypes

Periventricular nodular heterotopia 6, MIM#615544

OMIM

615532

Clinvar variants

Variants in ERMARD

Penetrance

None

Publications

Panels with this gene