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  2. Renal Tubulopathies and related disorders
  3. SLC4A1
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Renal Tubulopathies and related disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two isoforms, one expressed in kidney and the other in RBCs.

Both mono-allelic and bi-allelic variants have been associated with dRTA.

Well established gene-disease association.
Created: 2 Jun 2021, 9:17 p.m. | Last Modified: 2 Jun 2021, 9:17 p.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis 1, MIM# 179800; MONDO:0008368; Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590; MONDO:0012700

Publications

Created: 2 Jun 2021, 9:17 p.m.
Last Modified: 2 Jun 2021, 9:17 p.m.
Panel version: Imported from Renal Tubulopathies_KidGen panel version 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590
  • MONDO:0012700
  • MONDO:0008368
  • Distal renal tubular acidosis 1, MIM# 179800
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC4A1 was added gene: SLC4A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC4A1 were set to 10926824; 9312167; 9854053; 9600966 Phenotypes for gene: SLC4A1 were set to Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590; MONDO:0012700; MONDO:0008368; Distal renal tubular acidosis 1, MIM# 179800