Deafness_Isolated
Gene: ILDR1

ILDR1 (immunoglobulin like domain containing receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000145103
EnsemblGeneIds (GRCh37): ENSG00000145103
OMIM: 609739, Gene2Phenotype
ILDR1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 affected individuals reported, multiple lines of functional data support gene-disease association, rated as DEFINITIVE by ClinGen.
Created: 30 Sep 2020, 12:24 a.m. | Last Modified: 30 Sep 2020, 12:24 a.m.

Panel Version: 0.488

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 42, MIM# 609646

Publications

Created: 30 Sep 2020, 12:24 a.m.
Last Modified: 30 Sep 2020, 12:24 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.488

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 42, MIM# 609646

OMIM

609739

Clinvar variants

Variants in ILDR1

Penetrance

None

Publications

Panels with this gene