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Ichthyosis and erythrokeratoderma v1.52 | SNAP29 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: CEDNIK syndrome;Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 |
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Ichthyosis and erythrokeratoderma v1.52 | SNAP29 | Ivone Leong Phenotypes for gene: SNAP29 were changed from CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ichthyosis and erythrokeratoderma v0.3 | SNAP29 |
Ellen McDonagh gene: SNAP29 was added gene: SNAP29 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 25958742; 21073448; 15968592 Phenotypes for gene: SNAP29 were set to CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 |