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  2. Hereditary Neuropathy_CMT - isolated
  3. IQGAP3
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Hereditary Neuropathy_CMT - isolated

Gene: IQGAP3

Red List (low evidence)
IQGAP3 (IQ motif containing GTPase activating protein 3)
EnsemblGeneIds (GRCh38): ENSG00000183856
EnsemblGeneIds (GRCh37): ENSG00000183856
IQGAP3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single multiplex family reported with intronic variant and limited functional data.
Sources: Literature
Created: 20 Jun 2021, 5:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary neuropathy

Publications

Created: 20 Jun 2021, 5:44 a.m.

Panel version: 1.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary neuropathy
Clinvar variants
Variants in IQGAP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: iqgap3 has been classified as Red List (Low Evidence).

20 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IQGAP3 was added gene: IQGAP3 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: IQGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IQGAP3 were set to 32341455 Phenotypes for gene: IQGAP3 were set to Hereditary neuropathy Review for gene: IQGAP3 was set to RED