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  2. Renal and urinary tract disorders
  3. INF2
STRs in panel
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Renal and urinary tract disorders

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 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. At least five variants reported in Glomerulosclerosis, focal segmental, 5 613237 and six in Charcot-Marie-Tooth disease, dominant intermediate E 614455
Created: 4 Aug 2016, 1:47 p.m.
Created: 17 Jun 2016, 8:39 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 5 613237
  • Charcot-Marie-Tooth disease, dominant intermediate E 614455
OMIM
610982
Clinvar variants
Variants in INF2
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: INF2 were changed from Glomerulosclerosis, focal segmental, 5; Charcot-Marie-Tooth disease, dominant intermediate E 614455 to Glomerulosclerosis, focal segmental, 5 613237; Charcot-Marie-Tooth disease, dominant intermediate E 614455

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: INF2 was added gene: INF2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INF2 were set to Glomerulosclerosis, focal segmental, 5; Charcot-Marie-Tooth disease, dominant intermediate E 614455