Genes in panel

Hereditary neuropathy

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

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.
Created: 4 May 2016, 11:50 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate E, 614455
OMIM
610982
Clinvar variants
Variants in INF2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: INF2 were changed from Charcot Marie Tooth disease, dominant intermediate E, 614455; other to Charcot Marie Tooth disease, dominant intermediate E, 614455

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to INF2.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to INF2. Rating Changed from Green List (high evidence) to Green List (high evidence)

4 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

4 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

INF2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

INF2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen