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Deafness_IsolatedAndComplex
Gene: ELMOD3

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: 1.195

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: 1.195

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

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

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, 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).

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ELMOD3 were set to

31 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 Dec 2019, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELMOD3 was added gene: ELMOD3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: ELMOD3 was set to Unknown