1. Panels
  2. Rare genetic inflammatory skin disorders
  3. CARD9
STRs in panel
Prev Next
Regions in panel
Prev Next

Rare genetic inflammatory skin disorders

Gene: CARD9

Green List (high evidence)
CARD9 (caspase recruitment domain family member 9)
EnsemblGeneIds (GRCh38): ENSG00000187796
EnsemblGeneIds (GRCh37): ENSG00000187796
OMIM: 607212, Gene2Phenotype
CARD9 is in 3 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deep dermatophytosis

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CARD9; Suggested initial gene rating: Green; Evidence for inclusion: PMID:24131138; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:02 p.m.

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

Created: 31 Jan 2019, 2:02 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Deep dermatophytosis, MONDO:0018335
OMIM
607212
Clinvar variants
Variants in CARD9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CARD9 were changed from Deep dermatophytosis to Deep dermatophytosis, MONDO:0018335

12 Dec 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

Added phenotypes Deep dermatophytosis for gene: CARD9

20 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: CARD9 was changed from to BIALLELIC, autosomal or pseudoautosomal

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CARD9.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CARD9 was added gene: CARD9 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CARD9 was set to Publications for gene: CARD9 were set to 24131138 Phenotypes for gene: CARD9 were set to Deep dermatophytosis