Groopman et al 2019 - Genes with diagnostic variants
Gene: SLC4A1

SLC4A1 (solute carrier family 4 member 1 (Diego blood group))
EnsemblGeneIds (GRCh38): ENSG00000004939
EnsemblGeneIds (GRCh37): ENSG00000004939
OMIM: 109270, Gene2Phenotype
SLC4A1 is in 9 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

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

Groopman et al 2019 - Genes with diagnostic variants Gene: SLC4A1