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| Palmoplantar Keratoderma and Erythrokeratoderma v0.73 | SULT2B1 | Zornitza Stark Marked gene: SULT2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.73 | SULT2B1 | Zornitza Stark Added comment: Comment when marking as ready: Agree unclear if PKK is a consistent feature. Gene is Green on Ichthyosis panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.73 | SULT2B1 | Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.73 | SULT2B1 | Zornitza Stark Marked gene: SULT2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.73 | SULT2B1 | Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.73 | SULT2B1 | Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.72 | SULT2B1 | Zornitza Stark Classified gene: SULT2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.72 | SULT2B1 | Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.56 | SULT2B1 |
Ain Roesley gene: SULT2B1 was added gene: SULT2B1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SULT2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SULT2B1 were set to 28575648 Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 (MIM#617571) Penetrance for gene: SULT2B1 were set to unknown Review for gene: SULT2B1 was set to AMBER Added comment: PMID: 28575648; - 6 affecteds in 3 families (including 2 consanguineous) - In family 1: 1x presented hyperkeratosis and generalized desquamation with large, dark scales typical of the lamellar form of ARCI - in family 2: 1x presented with hyperkeratosis and erythema. - in family 3: 2x showed a generalized very dry, scaly skin with severe itching and erythema at birth. > 2x missense, 1x PTV and 1x splice PMID: 30578701; - 2 families reported, both homozygous for a missense - both presented with palmoplantar keratoderma and only 1 reported with erythroderma Sources: Literature |
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