Renal tubulopathies
Gene: FOXI1
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: FOXI1; Suggested initial gene rating: amber; Evidence for inclusion: Enerback et al 2018 J Am Soc Nephrol 29 (3): 1041-1048. PMID: 29242249, 2 families;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
Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number); Enlarged vestibular aqueducts, MIM 6007910
Publications
Comment on mode of inheritance: Homozygous variants were reported in PMID: 29242249.Created: 19 Sep 2018, 3:35 p.m.
Comment on list classification: Gene add to the panel by Reviewer due to new publication reporting homozygous variants in three families, with functional studies showing that these reduced DNA binding affinity of this transcription factor (PMID: 29242249). Promoted to Amber, awaiting Genomics England Clinical Team approval before making Green.Created: 19 Sep 2018, 3:33 p.m.
New gene for RTA and deafness
Sources: Expert Review, LiteratureCreated: 8 Sep 2018, 6:44 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
deafness; renal tubular acidosis
Publications
Phenotypes for gene: FOXI1 were changed from deafness; renal tubular acidosis to deafness; renal tubular acidosis; Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number); Enlarged vestibular aqueducts, 6007910
Source NHS GMS was added to FOXI1.
Mode of inheritance for gene: FOXI1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: foxi1 has been classified as Amber List (Moderate Evidence).
gene: FOXI1 was added gene: FOXI1 was added to Renal tubular acidosis. Sources: Expert Review,Literature Mode of inheritance for gene: FOXI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: FOXI1 were set to 29242249 Phenotypes for gene: FOXI1 were set to deafness; renal tubular acidosis Penetrance for gene: FOXI1 were set to Incomplete Review for gene: FOXI1 was set to GREEN