Hearing lossGene: ABCC1
Comment on list classification: Promoting from grey to amber based on expert review and some cases reported.
Created: 1 Jul 2020, 6:40 p.m. | Last Modified: 1 Jul 2020, 6:40 p.m.
Panel Version: 2.34
Provisionally associated with ?Deafness, autosomal dominant 77 #618915 (AD) in OMIM.
PMID: 31273342 - Li et al 2019 - Abstract only accessed. Exome sequencing identified a heterozygous missense variant, ABCC1:c.1769A>G (p.Asn590Ser), cosegregating with phenotype in HN-SD01. 2 further cases were then found by targeted sequencing of ABCC1 in additional cases.
Created: 1 Jul 2020, 6:39 p.m. | Last Modified: 1 Jul 2020, 6:39 p.m.
Panel Version: 2.32
Total of 3 variants reported in 3 families with post lingual ADSNHL, including 1 which segregates in a large family (10 affected)
The variant identified in the large multiplex family 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. In light of gnomad frequency of one of the variants, suggest Amber rating.
Created: 23 Apr 2020, 4:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Nonsyndromic hearing loss
Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss to Nonsyndromic hearing loss; ?Deafness, autosomal dominant 77, 618915
gene: ABCC1 was added gene: ABCC1 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC1 were set to 31273342 Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss Review for gene: ABCC1 was set to AMBER