Mosaic skin disorders - deep sequencing

Gene: CARD14

Red List (low evidence)

CARD14 (caspase recruitment domain family member 14)
EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 11 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ILVEN (submitted 2 cases)

History Filter Activity

5 Dec 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: CARD14 was added gene: CARD14 was added to Mosaic skin disorders - deep sequencing. Sources: 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)