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  2. Susceptibility to Fungal Infections
  3. CLEC7A
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Susceptibility to Fungal Infections

Gene: CLEC7A

Red List (low evidence)
CLEC7A (C-type lectin domain containing 7A)
EnsemblGeneIds (GRCh38): ENSG00000172243
EnsemblGeneIds (GRCh37): ENSG00000172243
OMIM: 606264, Gene2Phenotype
CLEC7A is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Candidiasis, familial, 4, autosomal recessive MIM#613108

Created: 26 Jul 2022, 4:35 a.m.
Last Modified: 26 Jul 2022, 4:35 a.m.
Panel version: 1.4

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Single kindred with mucocutaneous candida.
Sources: Literature
Created: 25 Jul 2022, 12:36 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mucocutaneous candidiasis

Publications

Created: 25 Jul 2022, 12:36 a.m.

Panel version: 1.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Candidiasis, familial, 4, autosomal recessive MIM#613108
  • {Aspergillosis, susceptibility to} , MIM#614079
  • Mucocutaneous candidiasis
OMIM
606264
Clinvar variants
Variants in CLEC7A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clec7a has been classified as Red List (Low Evidence).

26 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLEC7A were changed from Mucocutaneous candidiasis to Candidiasis, familial, 4, autosomal recessive MIM#613108; {Aspergillosis, susceptibility to} , MIM#614079; Mucocutaneous candidiasis

26 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clec7a has been classified as Red List (Low Evidence).

25 Jul 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: CLEC7A was added gene: CLEC7A was added to Susceptibility to Fungal Infections. Sources: Literature Mode of inheritance for gene: CLEC7A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLEC7A were set to PMID: 19864674 Phenotypes for gene: CLEC7A were set to Mucocutaneous candidiasis Review for gene: CLEC7A was set to RED