Groopman et al 2019 - Genes with diagnostic variants

Gene: INF2

Green List (high evidence)

INF2 (inverted formin, FH2 and WH2 domain containing)
EnsemblGeneIds (GRCh38): ENSG00000203485
EnsemblGeneIds (GRCh37): ENSG00000203485
OMIM: 610982, Gene2Phenotype
INF2 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: INF2; Inheritance: AD; Clinical diagnosis: Glomerulopathy; Nephropathy of unknown origin; Hypertensive nephropathy; Genetic diagnosis: Glomerulosclerosis focal segmental 5; OMIM phenotype MIM no.: 613237; Number of cases: 6
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert review green
  • Literature
Phenotypes
  • Glomerulosclerosis focal segmental 5
  • Nephropathy of unknown origin
  • Hypertensive nephropathy
  • Glomerulopathy
  • MIM 613237
OMIM
610982
Clinvar variants
Variants in INF2
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to INF2. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: INF2 was added gene: INF2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: INF2 were set to Glomerulosclerosis focal segmental 5; Nephropathy of unknown origin; Hypertensive nephropathy; Glomerulopathy; MIM 613237