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Hearing loss

Gene: ELMOD3

Red List (low evidence)

ELMOD3 (ELMO domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000115459
EnsemblGeneIds (GRCh37): ENSG00000115459
OMIM: 615427, Gene2Phenotype
ELMOD3 is in 1 panel

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

Single family reported initially with bi-allelic variants, additional family with homozygous deletion reported. Single dominant family reported with heterozygous variant. Supportive mouse model. Consider upgrading to Amber.
Created: 2 Jan 2020, 4:07 a.m. | Last Modified: 2 Jan 2020, 4:07 a.m.
Panel Version: 2.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 88, MIM#615429; Deafness, autosomal dominant

Publications

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#615429:?Deafness, autosomal recessive 88[Hearing loss, sensorineural and conductive, severe to profound]

Publications

Details

Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Deafness, autosomal recessive 88, 615429
OMIM
615427
Clinvar variants
Variants in ELMOD3
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELMOD3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELMOD3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert