Deafness_IsolatedAndComplex
Gene: ABCC1
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
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 ReviewCreated: 20 Apr 2020, 4:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nonsyndromic hearing loss (PMID: 31273342)
Publications
Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915 to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915
Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss (PMID: 31273342) to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915
Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Gene: abcc1 has been classified as Amber List (Moderate Evidence).
gene: ABCC1 was added gene: ABCC1 was added to Deafness. Sources: Expert Review Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABCC1 were set to 31273342 Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss (PMID: 31273342) Review for gene: ABCC1 was set to GREEN