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  3. INF2
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Atypical haemolytic uraemic syndrome

Gene: INF2

Red List (low evidence)
INF2 (inverted formin, FH2 and WH2 domain containing)
EnsemblGeneIds (GRCh38): ENSG00000203485
EnsemblGeneIds (GRCh37): ENSG00000203485
OMIM: 610982, Gene2Phenotype
INF2 is in 6 panels

2 reviews

David Kavanagh (Newcastle upon Tyne NHS hospitals trust)

Red List (low evidence)

Although associated with a clinical phenotype of aHUS it is not currently clear whether it is a primary phenomenon or secondary to FSGS
Created: 6 Aug 2019, 9:08 a.m. | Last Modified: 6 Aug 2019, 9:08 a.m.
Panel Version: 1.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FSGS MIM 613237; CHT MIM 614455

Publications

Created: 6 Aug 2019, 9:08 a.m.
Last Modified: 6 Aug 2019, 9:08 a.m.
Panel version: 1.9

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Valerie Wilson, The National Renal Complement Therapeutics Centre, February 2019 on behalf of Yorkshire and North East GLH for the GMS Renal Specialist Test Group; Gene Symbol submitted: INF2; Suggested initial gene rating: none provided;
Created: 12 Feb 2019, 12:40 p.m.
Created: 12 Feb 2019, 12:40 p.m.

Panel version: 1.7

Details

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

History Filter Activity

14 Aug 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

14 Aug 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: INF2 were set to

14 Aug 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: INF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: INF2 was added gene: INF2 was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS Mode of inheritance for gene: INF2 was set to