Renal tubulopathies
Gene: SLC4A1
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: SLC4A1; 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; Other Comments: RTA phenotype of interest onlyCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, distal, AD, MIM 179800; Renal tubular acidosis, distal, AR, MIM 611590; Cryohydrocytosis, MIM 185020; Ovalocystois, SA type MIM 166900; Spherocytoisis type 4, MIM 612653; various blood group associations.
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, 10:12 a.m.
Dominant disease is not caused by loss of function - this would result in hereditary spherocytosis.Created: 28 Oct 2015, 7:42 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Compensated or uncomensated dRTA and/or recurrent stone formation, usually with hypocitraturia
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance submitted by expert was "AD/AR" (autosomal dominant/autosomal recessive). Mode of inheritance from the Illumina source was "Dominant". This is represented here as BOTH monoallelic and biallelic, autosomal or pseudoautosomal to cover these scenerios.Created: 8 Jul 2015, 1:48 p.m.
Phenotypes for gene: SLC4A1 were changed from Distal Renal Tubular Acidosis, Dominant; Ovalocytosis; Distal renal tubular acidosis to Distal Renal Tubular Acidosis, Dominant; Ovalocytosis; Distal renal tubular acidosis; Renal tubular acidosis, distal, AD,179800; Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Ovalocystois, SA type 166900; Spherocytoisis type 4, 612653; various blood group associations.
Publications for gene: SLC4A1 were set to
Source NHS GMS was added to SLC4A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
SLC4A1 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing
SLC4A1 was added to Renal tubular acidosispanel. Sources: Expert
SLC4A1 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen
SLC4A1 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
SLC4A1 was added to Renal tubular acidosispanel. Sources: UKGTN