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Newborns main panel

Gene: FOXI1

Amber List (moderate evidence)
FOXI1 (forkhead box I1)
EnsemblGeneIds (GRCh38): ENSG00000168269
EnsemblGeneIds (GRCh37): ENSG00000168269
OMIM: 601093, Gene2Phenotype
FOXI1 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 29242249 - 2 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • FOXI1 associated distal renal tubular acidosis
OMIM
601093
Clinvar variants
Variants in FOXI1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name was removed from gene: FOXI1.

31 Dec 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: FOXI1.

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FOXI1. Added phenotypes FOXI1 associated distal renal tubular acidosis for gene: FOXI1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FOXI1. Added phenotypes FOXI1 associated distal renal tubular acidosis for gene: FOXI1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FOXI1. Added phenotypes FOXI1 associated distal renal tubular acidosis for gene: FOXI1 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FOXI1 was added gene: FOXI1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal