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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 8 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association. Childhood onset, metabolic condition characterised by haemolytic anaemia, and abnormal red cell properties (microcytosis, reticulocytosis). Other features include height and weight less than the third percentile, lethargy, pallor, hyperchloremic metabolic acidosis, nephrocalcinosis, isothenuria, rachitic bone changes and hepatosplenomegaly.

HGNC approved symbol/name: SLC4A1
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, oral alkali replacement therapy, potassium chloride. Not clear if treatment equally applicable to dominant and recessive forms of disease
Known technical challenges? No
Gene reported in 3 independent families: Yes (>10)

NOTE: multiple AD phenotypes associated with this gene (MIM#185020;179800;166900;612653)
Created: 3 Mar 2025, 5:51 a.m. | Last Modified: 3 Mar 2025, 5:51 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular acidosis, distal, AR, 611590 (3)
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC4A1 was added gene: SLC4A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)