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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

3 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Provisionally associated with ?Deafness, autosomal recessive 88 #615429 (AR) in OMIM.

As Zornitza Stark notes there are 3 cases reported - 1 with biallelic variants and prelingual deafness, 1 with a heterozygous variant and late-onset and progressive ADNSHL, and 1 with a homozygous deletion covering several genes including ELMOD3 where the proband shows ASD, intellectual disability (ID), and hearing impairment. A mouse knock out model also shows hearing loss:

PMID: 24039609 - Jaworek  et al 2013 - 1 large Pakistani family with a homozygous missense mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness. They found that the p.Leu265Ser mutation affects the localization of ELMOD3 in CL4 epithelial cells and mouse inner ear explants.

PMID: 29713870 - Li et al 2018 - 5 generation Chinese family affected by late-onset and progressive ADNSHL found to have a heterozygous missense c.512A>G (p.His171Arg) variant in ELMOD3.

PMID: 31628468 - Li et al 2019 - Elmod3-/- mice started to exhibit hearing loss from two months of age, and the deafness progressed with aging.

PMID: 30284680 - Lahbib et al 2019 - report a rare homozygous deletion in 2p11.2 region that affects ELMOD3, CAPG, and SH2D6 genes in a boy with ASD, intellectual disability (ID), and hearing impairment (HI).
Created: 28 Jan 2020, 11:12 a.m. | Last Modified: 28 Jan 2020, 11:12 a.m.
Panel Version: 2.4

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