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  2. Hereditary Neuropathy_CMT - isolated
  3. KLHL13
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Hereditary Neuropathy_CMT - isolated

Gene: KLHL13

Red List (low evidence)
KLHL13 (kelch like family member 13)
EnsemblGeneIds (GRCh38): ENSG00000003096
EnsemblGeneIds (GRCh37): ENSG00000003096
OMIM: 300655, Gene2Phenotype
KLHL13 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family (two affected males) with an inherited peripheral neuropathy, no functional analysis.
Sources: Expert Review
Created: 29 May 2021, 10:33 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
HMSN

Publications

Created: 29 May 2021, 10:33 a.m.

Panel version: Imported from Mendeliome panel version 0.7700

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family (two affected males) with an inherited peripheral neuropathy, no functional analysis.
Created: 23 Mar 2020, 4:57 a.m. | Last Modified: 23 Mar 2020, 4:57 a.m.
Panel Version: 0.7

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 23 Mar 2020, 4:57 a.m.
Last Modified: 23 Mar 2020, 4:57 a.m.
Panel version: 0.7

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert Review
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
OMIM
300655
Clinvar variants
Variants in KLHL13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl13 has been classified as Red List (Low Evidence).

29 May 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLHL13 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

13 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KLHL13 was added gene: KLHL13 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: KLHL13 was set to Publications for gene: KLHL13 were set to 24627108 Phenotypes for gene: KLHL13 were set to HMSN