DDG2P
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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SLC4A1-related renal tubular acidosis, distal (monoallelic) are strong, monoallelic_autosomal and undetermined (PMIDs: 37775346, 9312167, 9600966). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00171. The DDG2P confidence category, allelic requirement and molecular mechanism for SLC4A1-related renal tubular acidosis, distal (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 10926824, 31933135, 9854053). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00185.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure. The DDG2P confidence category for the disease RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
SLC4A1-related renal tubular acidosis, distal (monoallelic); RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590; OMIM:179800.0; SLC4A1-related renal tubular acidosis, distal (biallelic); MONDO:0008368; RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AR; RENAL TUBULAR ACIDOSIS, DISTAL, AD.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR.
Created: 29 Jan 2019, 12:14 p.m.

Original DDG2P rating: both DD and IF (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.131

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800
RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590

OMIM

109270

Clinvar variants

Variants in SLC4A1

Penetrance

None

Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SLC4A1 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene SLC4A1 was changed from Other - please provide details in the comments to Other

12 Jul 2019, Gel status: 3