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  3. SLC4A11
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Deafness_IsolatedAndComplex

Gene: SLC4A11

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Corneal endothelial dystrophy and perceptive deafness, MIM# 217400

Publications

Created: 28 Jan 2020, 11:11 p.m.
Last Modified: 28 Jan 2020, 11:11 p.m.
Panel version: 0.256

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
OMIM
610206
Clinvar variants
Variants in SLC4A11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc4a11 has been classified as Green List (High Evidence).

28 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC4A11 were changed from to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400

28 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC4A11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC4A11 were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC4A11 was added gene: SLC4A11 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: SLC4A11 was set to Unknown