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| Palmoplantar Keratoderma and Erythrokeratoderma v0.132 | CCDC91 |
Bryony Thompson changed review comment from: 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. Sources: Literature; to: 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 |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.88 | CTSC |
Paul De Fazio gene: CTSC was added gene: CTSC was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 11106356; 32601924 Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome (MIM#245000) Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic Added comment: Papillon-Lefevre syndrome manifests with PPK. Sufficient unrelated patients (>10) for gene-disease association. Sources: Literature |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | POMP |
Ain Roesley gene: POMP was added gene: POMP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437; 27503413; 29315485 Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952) Penetrance for gene: POMP were set to unknown Review for gene: POMP was set to GREEN Added comment: Also known as KLICK syndrome, it is a skin disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists. PMID: 20226437; Cohort of 12 KLICK patients but only 4 unrelated probands were sequenced (total of 6: 3 siblings + 3 unrelated) PMID: 27503413; 1x proband from consanguineous parents PMID: 29315485; 1x proband *All reported patients have the same homozygous 1bp deletion in the 5'UTR of POMP c.-95del Sources: Literature |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.75 | STS | Zornitza Stark Marked gene: STS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.75 | STS | Zornitza Stark Added comment: Comment when marking as ready: Palms are more typically spared in STS-associated ichthyosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.75 | STS | Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.75 | STS | Zornitza Stark Marked gene: STS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.75 | STS | Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.75 | STS | Zornitza Stark Classified gene: STS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.75 | STS | Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.56 | STS |
Ain Roesley gene: STS was added gene: STS was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: STS were set to PMID: 29672931 Phenotypes for gene: STS were set to Ichthyosis, X-linked (MIM#308100) Penetrance for gene: STS were set to unknown Review for gene: STS was set to AMBER Added comment: PMID: 29672931; - cohort of 35 Italian patients - 3 patients with mild palmoplantar keratoderma at birth - unclear what their variants are - 27x with complete STS gene deletion - 1x partial deletion leading to loss of exon 7 - 7x (including 3 pairs of siblings) had missense variants * STS patients usually present with brownish thickened scales Sources: Literature |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.45 | KRT17 |
Ain Roesley changed review comment from: Also known as Jackson-Lawler Syndrome, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.7 | ASPRV1 |
Ee Ming Wong gene: ASPRV1 was added gene: ASPRV1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASPRV1 were set to PMID: 32516568 Phenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis Review for gene: ASPRV1 was set to GREEN gene: ASPRV1 was marked as current diagnostic Added comment: -3 heterozygous missense variants identified across 4 unrelated kindreds -mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing Sources: Literature |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.6 | PERP |
Chirag Patel gene: PERP was added gene: PERP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PERP were set to PMID: 31898316 Phenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet Review for gene: PERP was set to RED Added comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible. Sources: Literature |
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