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Usher Syndrome

Gene: ESPN

Red List (low 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)

Red List (low evidence)

Single family reported with Usher syndrome phenotype. Bi-allelic variants in this gene are associated with isolated deafness (DEFINITIVE by ClinGen), with LIMITED evidence that mono-allelic variants also cause deafness.
Created: 29 Sep 2020, 10:08 a.m. | Last Modified: 29 Sep 2020, 10:08 a.m.
Panel Version: 0.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1M, MIM# 618632

Publications

Created: 29 Sep 2020, 10:08 a.m.
Last Modified: 29 Sep 2020, 10:08 a.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 1M, MIM#618632
OMIM
606351
Clinvar variants
Variants in ESPN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ESPN were changed from ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006 to Usher syndrome, type 1M, MIM#618632

29 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ESPN were set to

29 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ESPN was added gene: ESPN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESPN were set to ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006