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  2. Hereditary Neuropathy_CMT - isolated
  3. LITAF
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Hereditary Neuropathy_CMT - isolated

Gene: LITAF

Green List (high evidence)
LITAF (lipopolysaccharide induced TNF factor)
EnsemblGeneIds (GRCh38): ENSG00000189067
EnsemblGeneIds (GRCh37): ENSG00000189067
OMIM: 603795, Gene2Phenotype
LITAF is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 families reported, mouse model.
Created: 6 May 2021, 10:49 a.m. | Last Modified: 6 May 2021, 10:49 a.m.
Panel Version: 0.116

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995

Publications

Created: 6 May 2021, 10:49 a.m.
Last Modified: 6 May 2021, 10:49 a.m.
Panel version: 0.116

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 1C, MIM# 601098
  • MONDO:0010995
OMIM
603795
Clinvar variants
Variants in LITAF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: litaf has been classified as Green List (High Evidence).

6 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LITAF were changed from HMSN; Charcot Marie Tooth disease, type 1C, 601098 to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995

6 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LITAF were set to

6 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LITAF was added gene: LITAF was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LITAF were set to HMSN; Charcot Marie Tooth disease, type 1C, 601098