Renal tubulopathies
Gene: SLC4A4
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 providedCreated: 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
Comment when marking as ready: Known expert and OMIM in agreementCreated: 10 May 2016, 10:14 a.m.
Autosomal recessiveCreated: 28 Oct 2015, 8:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proximal RTA with ocular abnormalities
Publications
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.
Source NHS GMS was added to SLC4A4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC4A4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for SLC4A4 were set to 10545938
SLC4A4 was added to Renal tubular acidosispanel. Sources: Expert
SLC4A4 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
SLC4A4 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen