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  3. LITAF
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Hereditary neuropathy

Gene: LITAF

Green List (high evidence)
LITAF (lipopolysaccharide induced TNF factor)
EnsemblGeneIds (GRCh38): ENSG00000189067
EnsemblGeneIds (GRCh37): ENSG00000189067
OMIM: 603795, Gene2Phenotype
LITAF is in 3 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Several C5 reports in Bristol - mainly the same variant. Multiple on HGMD. PMID: 28211240 - recent paper of 18 patients with CMT due to LITAF mutations
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Charcot Marie Tooth disease, type 1C, 601098

Publications

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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

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.
Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.80

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

Green List (high evidence)

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

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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, 12:58 p.m.
Created: 10 Jun 2016, 12:58 p.m.

Panel version: 0.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Charcot Marie Tooth disease, type 1C, 601098
  • Charcot Marie Tooth disease, type 1C, 601098
OMIM
603795
Clinvar variants
Variants in LITAF
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 Charcot Marie Tooth disease, type 1C, 601098 for gene: LITAF Publications for gene LITAF were changed from to 28211240

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to LITAF.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LITAF.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to LITAF. 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 LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LITAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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