Deafness_IsolatedAndComplex
Gene: SLC12A2
- Variants in SLC12A2 identified in 3 families, including one sporadic case
- In vitro studies using HEK293T cells expressing mutant SLC12A2 demonstrated reduced chloride influx activityCreated: 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
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: LiteratureCreated: 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
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
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
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
Publications for gene: SLC12A2 were set to 30740830
Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: slc12a2 has been classified as Green List (High Evidence).
Gene: slc12a2 has been classified as Green List (High Evidence).
Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
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