1. Panels
  2. Nephrocalcinosis or nephrolithiasis
  3. SLC4A1
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Nephrocalcinosis or nephrolithiasis

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

Ellen Thomas (Genomics England Curator)

Comment on list classification: Renal tubular acidosis gene - some overlap in phenotypes
Created: 23 May 2016, 12:32 p.m.
Created: 23 May 2016, 12:32 p.m.

Panel version: 0.87

Ellen McDonagh (Genomics England Curator)

Comment on list classification: It is a "Both DD and IF gene" for renal tubular acidosis distal AR or AD (which include Nephrocalcinosis as a phenotype), and is on the eligibility statement.
Created: 20 May 2016, 11:11 a.m.
Created: 20 May 2016, 11:11 a.m.

Panel version: 0.82

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • distal renal tubular acidosis
  • Renal tubular acidosis, distal, AD, 179800
  • Renal tubular acidosis, distal, AR 611590
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Nov 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLC4A1 were changed from distal renal tubular acidosis to distal renal tubular acidosis; Renal tubular acidosis, distal, AD, 179800; Renal tubular acidosis, distal, AR 611590

23 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Eligibility statement prior genetic testing

7 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

SLC4A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert