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  3. ESRP1
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Deafness_Isolated

Gene: ESRP1

Amber List (moderate evidence)
ESRP1 (epithelial splicing regulatory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104413
EnsemblGeneIds (GRCh37): ENSG00000104413
OMIM: 612959, Gene2Phenotype
ESRP1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported with affected sibs, mouse model.
Sources: Expert list
Created: 1 Jan 2020, 10:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 109, MIM# 618013

Publications

Created: 1 Jan 2020, 10:17 p.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 109, MIM# 618013
OMIM
612959
Clinvar variants
Variants in ESRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: esrp1 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: ESRP1 was added gene: ESRP1 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESRP1 were set to 29107558 Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013