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Prepair 1000+

Gene: SLC4A11

Red List (low evidence)

SLC4A11 (solute carrier family 4 member 11)
EnsemblGeneIds (GRCh38): ENSG00000088836
EnsemblGeneIds (GRCh37): ENSG00000088836
OMIM: 610206, Gene2Phenotype
SLC4A11 is in 6 panels

3 reviews

Kate Scarff (Victorian Clinical Genetics Services)

Red List (low evidence)

CHED2 is often present at birth or within the first 6 months, but the age of onset, disease progression, and degree of visual impairment can be variable. Corneal edema and opacification present at birth or shortly thereafter. The degree of opacification varies from mild to severe.
Corneal endothelial dystrophy and perceptive deafness is also known as Harboyan syndrome. Sensorineural hearing loss usually develops later (1st to 3rd decade, PMID: 17220209).
Both conditions have similar ocular phenotypes, ie, diffuse bilateral corneal edema present at birth or within the neonatal period; hence, audiometry must be performed to differentiate the two conditions. Inter- and intra-familial variability is observed.
SLC4A11 mutations identified in patients with CHED2 patients and patients with Harboyan syndrome patients are very similar and it is not clear why some cause only corneal defects and others corneal and auditory defects. However, it is clear that of the two cell types, corneal endothelial cells are more vulnerable to defects in the functional activity of SLC4A11 than cells of the striae vascularis of the inner ear (PMID: 20118786).
Treated with corneal transplant.
Created: 2 Jan 2025, 1:39 a.m. | Last Modified: 2 Jan 2025, 1:39 a.m.
Panel Version: 1.984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal endothelial dystrophy and perceptive deafness, MIM #217400 (CDPD); Corneal endothelial dystrophy, autosomal recessive, MIM#217700 (CHED2)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Significant visual impairment unlikely with treatment.
Created: 26 Aug 2022, 6:19 a.m. | Last Modified: 26 Aug 2022, 6:19 a.m.
Panel Version: 0.160

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene-disease association. Inter- and intra-familial variability and no genotype-phenotype correlation
Sources: Literature
Created: 26 Jul 2022, 3:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268
  • Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
  • Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
OMIM
610206
Clinvar variants
Variants in SLC4A11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc4a11 has been classified as Red List (Low Evidence).

26 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc4a11 has been classified as Red List (Low Evidence).

26 Aug 2022, Gel status: 0

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: SLC4A11.

28 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: SLC4A11.

26 Jul 2022, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: SLC4A11 was added gene: SLC4A11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A11 were set to 26451371; 20118786; 21203343 Phenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700 Review for gene: SLC4A11 was set to AMBER