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Newborns main panel

Gene: SLC4A1

Green List (high evidence)
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

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Distal renal tubular acidosis are included.
Created: 26 Sep 2024, 4:15 p.m. | Last Modified: 18 Nov 2025, 3:36 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 4:15 p.m.
Last Modified: 18 Nov 2025, 3:36 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36776909 - 61 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive
Tags
special_consideration
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SLC4A1.

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis type 4 with haemolytic anaemia, autosomal recessive to Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis type 4 with hemolytic anemia, autosomal recessive to Distal renal tubular acidosis type 4 with haemolytic anaemia, autosomal recessive

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive to Distal renal tubular acidosis type 4 with hemolytic anemia, autosomal recessive

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis type 4 with hemolytic anemia, autosomal recessive to Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis, autosomal recessive to Distal renal tubular acidosis type 4 with hemolytic anemia, autosomal recessive

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis type 4 with hemolytic anemia to Distal renal tubular acidosis, autosomal recessive

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis 4 with hemolytic anemia to Distal renal tubular acidosis type 4 with hemolytic anemia

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 4 with hemolytic anemia for gene: SLC4A1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 4 with hemolytic anemia for gene: SLC4A1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis 4 with hemolytic anemia; Distal renal tubular acidosis 1 to Distal renal tubular acidosis 4 with hemolytic anemia

31 May 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC4A1. Mode of inheritance for gene SLC4A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Distal renal tubular acidosis 4 with hemolytic anemia for gene: SLC4A1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SLC4A1 was added gene: SLC4A1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to Distal renal tubular acidosis 1; Distal renal tubular acidosis 4 with hemolytic anemia