Deafness_IsolatedAndComplex
Gene: ABCC1

ABCC1 (ATP binding cassette subfamily C member 1)
EnsemblGeneIds (GRCh38): ENSG00000103222
EnsemblGeneIds (GRCh37): ENSG00000103222
OMIM: 158343, Gene2Phenotype
ABCC1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants.
Created: 20 Apr 2020, 10:54 a.m. | Last Modified: 20 Apr 2020, 10:54 a.m.

Panel Version: 0.341

Phenotypes
Deafness-77, autosomal dominant (DFNA77), MIM#618915

Created: 20 Apr 2020, 10:54 a.m.
Last Modified: 20 Apr 2020, 10:54 a.m.
Panel version: 0.351

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected)

PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual
ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD.
Sources: Expert Review
Created: 20 Apr 2020, 4:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nonsyndromic hearing loss (PMID: 31273342)

Publications

31273342

Created: 20 Apr 2020, 4:56 a.m.

Panel version: 0.339

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Nonsyndromic hearing loss
Deafness-77, autosomal dominant (DFNA77), MIM#618915

OMIM

158343

Clinvar variants

Variants in ABCC1

Penetrance

None

Publications

31273342

Panels with this gene