Renal Tubulopathies and related disorders

Gene: FOXI1

Green List (high evidence)

FOXI1 (forkhead box I1)
EnsemblGeneIds (GRCh38): ENSG00000168269
EnsemblGeneIds (GRCh37): ENSG00000168269
OMIM: 601093, Gene2Phenotype
FOXI1 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

PMID: 9843211, 12642503 - null mouse models display deafness and vestibular issues
PMID: 29242249 - distal renal tubular acidosis and sensorineural deafness with enlarged vestibular aqueduct (EVA) in 3 affected individuals in 2 consanguineous families with homozygous missense (L146F & R213P). Cases also had rickets, nephrocalcinosis, and medullary cysts. In vitro assays demonstrate reduced function for both variants.
Sources: Literature
Created: 12 May 2022, 5:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive distal renal tubular acidosis MONDO:0018440

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal recessive distal renal tubular acidosis MONDO:0018440
OMIM
601093
Clinvar variants
Variants in FOXI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXI1 was added gene: FOXI1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXI1 were set to 12642503; 29242249; 9843211 Phenotypes for gene: FOXI1 were set to autosomal recessive distal renal tubular acidosis MONDO:0018440