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Deafness_IsolatedAndComplex

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

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

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

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
Panels with this gene

History Filter Activity

21 Jun 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jun 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss (PMID: 31273342) to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Apr 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

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