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Deafness_IsolatedAndComplex

Gene: ESPN

Green List (high evidence)

ESPN (espin)
EnsemblGeneIds (GRCh38): ENSG00000187017
EnsemblGeneIds (GRCh37): ENSG00000187017
OMIM: 606351, Gene2Phenotype
ESPN is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: association rated as DEFINITIVE by ClinGen. Over 20 affected individuals reported, mouse model.

Mono-allelic variants: rated as LIMITED by ClinGen. Two individuals reported.
Created: 29 Sep 2020, 10:02 a.m. | Last Modified: 29 Sep 2020, 10:02 a.m.
Panel Version: 0.456

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 36, MIM# 609006
  • Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006
OMIM
606351
Clinvar variants
Variants in ESPN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: espn has been classified as Green List (High Evidence).

29 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ESPN were changed from to Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006

29 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ESPN were set to

29 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ESPN was added gene: ESPN 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: ESPN was set to Unknown