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Hearing loss

Gene: ESRP1

Amber List (moderate evidence)

ESRP1 (epithelial splicing regulatory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104413
EnsemblGeneIds (GRCh37): ENSG00000104413
OMIM: 612959, Gene2Phenotype
ESRP1 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Changing rating from grey to amber. 1 case with segregation data reported, plus mouse knockout model.
Created: 20 Sep 2020, 9:01 a.m. | Last Modified: 20 Sep 2020, 9:01 a.m.
Panel Version: 2.91
Provisionally associated with ?Deafness, autosomal recessive 109 #618013 (AR) in OMM.

PMID: 29107558 - Rohacek et al 2017 - report two siblings with healthy non-consanguineous parents who have congenital profound bilateral SNHL with an unusual vestibular dysplasia. Using WES they found compound heterozygous variants in the ESRP1 gene (c.665_683 del, p.Asp222Glyfs*32 and c.775C>G, p.Leu259Val). The parents each had one variant and the 4 unaffected siblings had either 1 or no variants. Esrp1−/− mouse embryos showed ear defects. In an additional cohort of 144 probands with bilateral SNHL screened for mutations in ESRP1 and ESRP2 rare heterozygous missense substitutions in ESRP1 were found in three samples but no homozygous or compound het variants.
Created: 20 Sep 2020, 9 a.m. | Last Modified: 20 Sep 2020, 9 a.m.
Panel Version: 2.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Deafness, autosomal recessive 109, 618013

Publications

Zornitza Stark (Australian Genomics)

I don't know

Single family reported with affected sibs, mouse model. Amber or Red.
Sources: Expert list
Created: 29 Jan 2020, 12:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 109, MIM# 618013

Publications

Details

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

History Filter Activity

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: esrp1 has been classified as Amber List (Moderate Evidence).

20 Sep 2020, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ESRP1 were changed from Deafness, autosomal recessive 109, MIM# 618013 to Deafness, autosomal recessive 109, 618013

29 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ESRP1 was added gene: ESRP1 was added to Hearing loss. Sources: 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 Review for gene: ESRP1 was set to AMBER