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Mosaic skin disorders

Gene: CARD14

Amber List (moderate evidence)
CARD14 (caspase recruitment domain family member 14)
EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 4 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Now published data, but only 2 cases
Created: 5 Apr 2023, 12:32 a.m. | Last Modified: 5 Apr 2023, 12:32 a.m.
Panel Version: 1.2
Created: 5 Apr 2023, 12:32 a.m.
Last Modified: 5 Apr 2023, 12:32 a.m.
Panel version: 1.2

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Only reported in 2 individuals in a mosaic state with ILVEN

PMID: 34116062 – Heterozygous missense variants detected in 2 of 15 patients (in a mosaic state). c.356T > A, p. (M119K) and c.277A > G, p.(K93E) – not present in gnomAD; Skin keratinocytes (KC) and SVK14 cells were transfected with a mutant CARD14 construct.
Quantitative real-time reverse transcription–PCR showed a significant increase in IL-12 and IL-23 secretion in the supernatant and an increase in the proliferation rate in the KC and SVK14 cells transfected with the mutant CARD14 construct.
Created: 3 Apr 2023, 4:38 a.m. | Last Modified: 3 Apr 2023, 4:38 a.m.
Panel Version: 1.1

Phenotypes
Inflammatory linear verrucous epidermal naevus (ILVEN)

Publications

Mode of pathogenicity
Other

Created: 3 Apr 2023, 4:38 a.m.
Last Modified: 3 Apr 2023, 4:38 a.m.
Panel version: 1.1

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Unpublished data.
Created: 18 Feb 2021, 9:41 a.m. | Last Modified: 18 Feb 2021, 9:43 a.m.
Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Inflammatory linear verrucous epidermal naevus

Created: 18 Feb 2021, 9:41 a.m.
Last Modified: 18 Feb 2021, 9:43 a.m.
Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Inflammatory linear verrucous epidermal naevus
OMIM
607211
Clinvar variants
Variants in CARD14
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

5 Apr 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CARD14 were set to

5 Apr 2023, Gel status: 2

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: CARD14 was changed from to Other

5 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: card14 has been classified as Amber List (Moderate Evidence).

18 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: card14 has been classified as Red List (Low Evidence).

18 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CARD14 were changed from ILVEN (submitted 2 cases) to Inflammatory linear verrucous epidermal naevus

18 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CARD14 was added gene: CARD14 was added to Mosaic skin disorders. Sources: NHS GMS,Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)