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Hearing loss

Gene: ABCC1

Amber List (moderate evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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.
Sources: Literature
Created: 23 Apr 2020, 4:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nonsyndromic hearing loss

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Nonsyndromic hearing loss
  • ?Deafness, autosomal dominant 77, 618915
OMIM
158343
Clinvar variants
Variants in ABCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: abcc1 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss to Nonsyndromic hearing loss; ?Deafness, autosomal dominant 77, 618915

23 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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