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  3. SLC16A12
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Groopman et al 2019 - Genes with diagnostic variants

Gene: SLC16A12

Red List (low evidence)
SLC16A12 (solute carrier family 16 member 12)
EnsemblGeneIds (GRCh38): ENSG00000152779
EnsemblGeneIds (GRCh37): ENSG00000152779
OMIM: 611910, Gene2Phenotype
SLC16A12 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SLC16A12; Inheritance: AD; Clinical diagnosis: Tubulointerstitial disease; Genetic diagnosis: Cataract 47 juvenile with microcornea; OMIM phenotype MIM No.: 612018; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • MIM 612018
  • Cataract 47 juvenile with microcornea
OMIM
611910
Clinvar variants
Variants in SLC16A12
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to SLC16A12.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC16A12 was added gene: SLC16A12 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC16A12 were set to Tubulointerstitial disease; MIM 612018; Cataract 47 juvenile with microcornea