Renal tubulopathies

Gene: SLC4A1

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: 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 only

Created: 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 agreement

Created: 10 May 2016, 10:12 a.m.

Green List (high evidence)

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

• 9312167
• 9600966

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.