| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.74 | ABHD5 | Zornitza Stark Marked gene: ABHD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.74 | ABHD5 | Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.74 | ABHD5 | Zornitza Stark Classified gene: ABHD5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.74 | ABHD5 | Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.56 | ABHD5 |
Paul De Fazio changed review comment from: Association with Chanarin-Dorfman syndrome (CDS) is well established. The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report. Sources: Literature; to: Association with Chanarin-Dorfman syndrome (CDS) is well established. The skin phenotype associated with CDS is ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report. Sources: Literature |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.56 | ABHD5 |
Paul De Fazio gene: ABHD5 was added gene: ABHD5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 16181472 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome (MIM#275630) Review for gene: ABHD5 was set to RED gene: ABHD5 was marked as current diagnostic Added comment: Association with Chanarin-Dorfman syndrome (CDS) is well established. The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report. Sources: Literature |
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