Deafness_IsolatedAndComplex
Gene: ELMOD3
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
Gene: elmod3 has been classified as Red List (Low Evidence).
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
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
Gene: elmod3 has been classified as Amber List (Moderate Evidence).
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
Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Publications for gene: ELMOD3 were set to
Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: elmod3 has been classified as Amber List (Moderate Evidence).
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