Palmoplantar Keratoderma and Erythrokeratoderma
Gene: COL14A1EnsemblGeneIds (GRCh38): ENSG00000187955
EnsemblGeneIds (GRCh37): ENSG00000187955
OMIM: 120324, Gene2Phenotype
COL14A1 is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
4 affected individuals and 2 unaffected controls from one Chinese PPPK family where disease locus was mapped at 8q24.13-8q24.21 by previous linkage analysis. Exome sequencing analysis identified a heterozygous variant in COL14A1 gene (c.4505C>T (p.Pro1502Leu)). The variant was shared by 4 affected individuals, but not 2 controls of the family. Sanger sequencing confirmed this variant in another four cases from this family. Variant was absent in the normal controls of this family as well as 676 unrelated normal controls and 781 patients with other disease. The missense substitution occurs at a highly conserved amino acid residue across multiple species.
Sources: LiteratureCreated: 15 Sep 2021, 8:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Punctate palmoplantar keratoderma type 1B
Publications
- PMID: 22972947
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related
- OMIM
- 120324
- Clinvar variants
- Variants in COL14A1
- Penetrance
- None
- Publications
-
- PMID: 22972947
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL14A1 were changed from Punctate palmoplantar keratoderma type 1B to Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col14a1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: COL14A1 was added gene: COL14A1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: COL14A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL14A1 were set to PMID: 22972947 Phenotypes for gene: COL14A1 were set to Punctate palmoplantar keratoderma type 1B Review for gene: COL14A1 was set to RED