Renal tubulopathies
Gene: FOXI1EnsemblGeneIds (GRCh38): ENSG00000168269
EnsemblGeneIds (GRCh37): ENSG00000168269
OMIM: 601093, Gene2Phenotype
FOXI1 is in 3 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
- Enerback et al 2018 J Am Soc Nephrol 29 (3): 1041-1048. PMID: 29242249
Ellen McDonagh (Genomics England Curator)
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.
John Sayer (Newcastle University)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- deafness
- renal tubular acidosis
- Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number)
- Enlarged vestibular aqueducts, 6007910
- OMIM
- 601093
- Clinvar variants
- Variants in FOXI1
- Penetrance
- Incomplete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to FOXI1.
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)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
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: foxi1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Sayer (Newcastle University)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