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  2. Calcium and Phosphate disorders
  3. SLC4A1
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Calcium and Phosphate 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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypophosphataemic rickets can be a feature of the condition
PMID: 35738466 - 5 monoallelic & 2 biallelic cases with hypophosphataemic rickets and renal tubular dysfunction
Sources: Literature
Created: 1 Apr 2024, 1 a.m. | Last Modified: 1 Apr 2024, 1:02 a.m.
Panel Version: 1.5

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Apr 2024, 1 a.m.
Last Modified: 1 Apr 2024, 1:02 a.m.
Panel version: 1.5

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012700
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc4a1 has been classified as Green List (High Evidence).

1 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc4a1 has been classified as Green List (High Evidence).

1 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC4A1 was added gene: SLC4A1 was added to Calcium and Phosphate disorders. Sources: Literature 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 Publications for gene: SLC4A1 were set to 35738466 Phenotypes for gene: SLC4A1 were set to renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012700 Review for gene: SLC4A1 was set to GREEN gene: SLC4A1 was marked as current diagnostic