Renal tubulopathies

Gene: SLC4A4

Green List (high evidence)

SLC4A4 (solute carrier family 4 member 4)
EnsemblGeneIds (GRCh38): ENSG00000080493
EnsemblGeneIds (GRCh37): ENSG00000080493
OMIM: 603345, Gene2Phenotype
SLC4A4 is in 6 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: SLC4A4; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities, MIM 604278

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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and OMIM in agreement
Created: 10 May 2016, 10:14 a.m.

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Autosomal recessive
Created: 28 Oct 2015, 8:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proximal RTA with ocular abnormalities

Publications

Ellen McDonagh (Genomics England Curator)

Differences between sources for the mode of inheritance were observed - Mode of inheritance submitted by expert list was "AD" (autosomal dominant = monoallelic). However, mode of inheritance from Illumina source was "recessive" (biallelic). Here this is represented by selecting the "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" option.
Created: 8 Jul 2015, 1:44 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
OMIM
603345
Clinvar variants
Variants in SLC4A4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SLC4A4. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

10 May 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SLC4A4 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

10 May 2016, Gel status: 2

Set publications

Damian Smedley (Genomics England Curator)

Publications for SLC4A4 were set to 10545938

8 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

SLC4A4 was added to Renal tubular acidosispanel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SLC4A4 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC4A4 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen