Renal Tubulopathies and related disorders
Gene: FOXI1

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

Created: 12 May 2022, 5:28 a.m.

Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.63

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

Renal Tubulopathies and related disorders Gene: FOXI1