1. Panels
  2. Deafness_Isolated
  3. ELMOD3
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_Isolated

Gene: ELMOD3

Red List (low evidence)
ELMOD3 (ELMO domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000115459
EnsemblGeneIds (GRCh37): ENSG00000115459
OMIM: 615427, Gene2Phenotype
ELMOD3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Discussed at GenCC: LIMITED.
Created: 19 Aug 2024, 12:57 a.m. | Last Modified: 19 Aug 2024, 12:57 a.m.
Panel Version: 1.63
Single family reported initially with bi-allelic variants, additional family with homozygous deletion reported. Single dominant family reported. Supportive mouse model.
Created: 31 Dec 2019, 12:52 a.m. | Last Modified: 31 Dec 2019, 12:52 a.m.
Panel Version: 0.55

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant 81, MIM# 619500

Publications

Created: 31 Dec 2019, 12:52 a.m.
Last Modified: 31 Dec 2019, 12:52 a.m.
Panel version: 1.63

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 81, MIM# 619500
  • Deafness, autosomal recessive 88, MIM# 615429
OMIM
615427
Clinvar variants
Variants in ELMOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elmod3 has been classified as Red List (Low Evidence).

25 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal dominant; Deafness, autosomal recessive 88, MIM# 615429 to Deafness, autosomal dominant 81, MIM# 619500; Deafness, autosomal recessive 88, MIM# 615429

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elmod3 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELMOD3 was added gene: ELMOD3 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: ELMOD3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ELMOD3 were set to 31628468; 30284680; 24039609; 29713870 Phenotypes for gene: ELMOD3 were set to Deafness, autosomal dominant; Deafness, autosomal recessive 88, MIM# 615429