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  3. SLC4A1
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Newborns additional phenotypes panel 1

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: Other phenotypes with same MOI not included.

Additional Information: AD variants in SLC4A1 are also associated with Cryohydrocytosis; Ovalocytosis, SA type; and Spherocytosis type 4 which are not included in the study.
Created: 26 Sep 2024, 4:16 p.m. | Last Modified: 19 Nov 2025, 1:17 p.m.
Panel Version: 0.102
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: 0.102
Created: 26 Sep 2024, 4:15 p.m.
Last Modified: 19 Nov 2025, 1:17 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
PMID: 36776909 - 100 cases. PMID: 19565014 - evidence DN
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.27
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Distal renal tubular acidosis type 1, autosomal dominant
Tags
special_consideration
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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.

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 dominant to Distal renal tubular acidosis type 1, autosomal dominant

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 1 to Distal renal tubular acidosis, autosomal dominant

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis 1 to Distal renal tubular acidosis type 1

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 1 for gene: SLC4A1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC4A1. Added phenotypes Distal renal tubular acidosis 1 for gene: SLC4A1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: SLC4A1 was added gene: SLC4A1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC4A1 were set to Distal renal tubular acidosis 1 Mode of pathogenicity for gene: SLC4A1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments