Groopman et al 2019 - Genes with diagnostic variants

Gene: SLC4A1

Red List (low evidence)

SLC4A1 (solute carrier family 4 member 1 (Diego blood group))
EnsemblGeneIds (GRCh38): ENSG00000004939
EnsemblGeneIds (GRCh37): ENSG00000004939
OMIM: 109270, Gene2Phenotype
SLC4A1 is in 10 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SLC4A1; Inheritance: AD; Clinical diagnosis: Tubulointerstitial disease; Genetic diagnosis: Renal tubular acidosis distal, autosomal dominant; OMIM phenotype MIM No.: 179800; 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Renal tubular acidosis distal, autosomal dominant
  • MIM 179800
OMIM
109270
Clinvar variants
Variants in SLC4A1
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 SLC4A1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC4A1 was added gene: SLC4A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC4A1 were set to Tubulointerstitial disease; Renal tubular acidosis distal, autosomal dominant; MIM 179800