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Newborns main panel

Gene: SLC4A4

Amber List (moderate evidence)
SLC4A4 (solute carrier family 4 member 4)
EnsemblGeneIds (GRCh38): ENSG00000080493
EnsemblGeneIds (GRCh37): ENSG00000080493
OMIM: 603345, Gene2Phenotype
SLC4A4 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 10545938 - 2 cases PMID: 16636648 - 1 case. PMID: 27338124 - 1 case and review of >10 previous cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities
OMIM
603345
Clinvar variants
Variants in SLC4A4
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC4A4. Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities for gene: SLC4A4 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 SLC4A4. Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities for gene: SLC4A4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC4A4. Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities for gene: SLC4A4 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities for gene: SLC4A4

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC4A4 was added gene: SLC4A4 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal