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  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. CCDC91
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: CCDC91

Amber List (moderate evidence)
CCDC91 (coiled-coil domain containing 91)
EnsemblGeneIds (GRCh38): ENSG00000123106
EnsemblGeneIds (GRCh37): ENSG00000123106
OMIM: 617366, Gene2Phenotype
CCDC91 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single 3-generation Chinese acrokeratoelastoidosis family segregates c.1101 + 1 G > A (causes exon 11 skipping). In vitro knockdown experiments in cell lines demonstrated distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-human skin fibroblasts cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates.
Sources: Literature
Created: 30 Apr 2024, 8:01 a.m. | Last Modified: 30 Apr 2024, 8:06 a.m.
Panel Version: 0.132

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Punctate palmoplantar keratoderma type III MONDO:0007047

Publications

Created: 30 Apr 2024, 8:01 a.m.
Last Modified: 30 Apr 2024, 8:06 a.m.
Panel version: 0.131

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Punctate palmoplantar keratoderma type III MONDO:0007047
OMIM
617366
Clinvar variants
Variants in CCDC91
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccdc91 has been classified as Amber List (Moderate Evidence).

30 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccdc91 has been classified as Amber List (Moderate Evidence).

30 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CCDC91 was added gene: CCDC91 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CCDC91 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC91 were set to 38627542 Phenotypes for gene: CCDC91 were set to Punctate palmoplantar keratoderma type III MONDO:0007047 Review for gene: CCDC91 was set to AMBER