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Hearing loss

Gene: ESRP1

No list

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

1 review

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
Phenotypes
  • Deafness, autosomal recessive 109, MIM# 618013
OMIM
612959
Clinvar variants
Variants in ESRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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