Genes in panel

Hereditary neuropathy

Gene: FIG4

Green List (high evidence)

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 12 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Multiple C5s in Bristol. Also well established from looking at HGMD. First paper PMID:17572665 - mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Multiple papers since and one particularly common variant p.I41T
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577; Yunis Varon syndrome, 216340

Publications

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

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.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

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

Green List (high evidence)

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

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
BIALLELIC, autosomal or pseudoautosomal

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

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 12:56 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Yunis Varon syndrome, 216340
  • Yunis Varon syndrome, 216340
  • Amyotrophic lateral sclerosis 11, 612577
  • Charcot Marie Tooth disease, type 4J, 611228
  • Amyotrophic lateral sclerosis 11, 612577
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228 for gene: FIG4 Publications for gene FIG4 were changed from to 17572665

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to FIG4.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FIG4.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to FIG4. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 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: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory