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  3. SLC16A12
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Cataract

Gene: SLC16A12

Green List (high evidence)
SLC16A12 (solute carrier family 16 member 12)
EnsemblGeneIds (GRCh38): ENSG00000152779
EnsemblGeneIds (GRCh37): ENSG00000152779
OMIM: 611910, Gene2Phenotype
SLC16A12 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sixteen affected individuals reported, functional data.
Created: 7 Jul 2020, 3:03 a.m. | Last Modified: 7 Jul 2020, 3:03 a.m.
Panel Version: 0.154

Phenotypes
Cataract 47, juvenile, with microcornea 612018

Publications

Created: 7 Jul 2020, 3:03 a.m.
Last Modified: 7 Jul 2020, 3:03 a.m.
Panel version: 0.154

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 47, juvenile, with microcornea 612018
OMIM
611910
Clinvar variants
Variants in SLC16A12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc16a12 has been classified as Green List (High Evidence).

7 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC16A12 were changed from to Cataract 47, juvenile, with microcornea 612018

7 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC16A12 were set to

7 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC16A12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC16A12 was added gene: SLC16A12 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC16A12 was set to Unknown