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Deafness_IsolatedAndComplex
Gene: SLC12A2

SLC12A2 (solute carrier family 12 member 2)
EnsemblGeneIds (GRCh38): ENSG00000064651
EnsemblGeneIds (GRCh37): ENSG00000064651
OMIM: 600840, Gene2Phenotype
SLC12A2 is in 3 panels

2 reviews

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Variants in SLC12A2 identified in 3 families, including one sporadic case
- In vitro studies using HEK293T cells expressing mutant SLC12A2 demonstrated reduced chloride influx activity
Created: 1 Jun 2020, 5:27 a.m. | Last Modified: 1 Jun 2020, 5:27 a.m.

Panel Version: 0.344

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital, severe to profound hearing loss; minor motor developmental delay

Publications

PMID: 32294086

Created: 1 Jun 2020, 5:27 a.m.
Last Modified: 1 Jun 2020, 5:27 a.m.
Panel version: 0.344

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family with bi-allelic variants reported, encephalopathy and deafness.
Created: 9 Oct 2020, 12:02 a.m. | Last Modified: 9 Oct 2020, 12:02 a.m.

Panel Version: 1.5

Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Created: 15 Dec 2019, 11:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kilquist syndrome, MIM#619080; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies; Deafness, autosomal dominant 78, MIM# 619081

Publications

Created: 15 Dec 2019, 11:34 p.m.

Panel version: 1.14

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Kilquist syndrome, MIM#619080
deafness, intellectual disability, dysmorphic features, absent salivation
Congenital, severe to profound hearing loss
minor motor developmental delay
Deafness, autosomal dominant 78, MIM# 619081

OMIM

Clinvar variants

Variants in SLC12A2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay; Deafness, autosomal dominant 78, MIM# 619081

10 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay

1 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation to Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay

1 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC12A2 were set to 30740830

1 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc12a2 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc12a2 has been classified as Green List (High Evidence).

15 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc12a2 has been classified as Amber List (Moderate Evidence).

15 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc12a2 has been classified as Amber List (Moderate Evidence).

15 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC12A2 was added gene: SLC12A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A2 were set to 30740830 Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation Review for gene: SLC12A2 was set to AMBER