ERMARD
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ERMARD (HGNC:21056) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ER membrane associated RNA degradation
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C6orf70
Alias symbols
FLJ11152, dJ266L20.3
%HI
84.87(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1(Read more about gnomAD LOEUF score)
Cytoband
6q27
Genomic Coordinates
GRCh37/hg19: chr6:170151718-170181696 NCBI Ensembl UCSC
GRCh38/hg38: chr6:169751306-169781600 NCBI Ensembl UCSC
MANE Select Transcript
NM_018341.3 ENST00000366773.8 (Read more about MANE Select)
Function
May play a role in neuronal migration during embryonic development. {ECO:0000269|PubMed:24056535}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17691
ClinGen Curation ID:
CCID:007086
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/13/2013

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 24056535
    Conti et al (2013) identified a ~1.2Mb common region of overlap in 12 patients with deletion at 6q27 and developmental brain abnormalities variably combining periventricular nodular heterotopia, corpus callosum dysgenesis, colpocephaly, cerebellar hypoplasia and polymicrogyria. Using WES in 14 patients with isolated periventricular nodular heterotopia but no CNVs, they identified one patient with periventricular nodular heterotopia, developmental delay and epilepsy and a de novo missense mutation in the chromosome 6 open reading frame 70 (C6orf70) gene, mapping in the minimal 6q27 critical deleted region. Furthermore, functional studies revealed silencing of C6orf70 in the developing rat neocortex produced periventricular nodular heterotopia that was rescued by concomitant expression of wild-type human C6orf70 protein.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)