Activity
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7 actions
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| Cholestasis v0.21 | CLDN1 | Ivone Leong Marked gene: CLDN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | CLDN1 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | CLDN1 | Ivone Leong Gene: cldn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | CLDN1 |
Ivone Leong Source Other was added to CLDN1. Mode of inheritance for gene CLDN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ichthyosis-hypotrichosis-sclerosing cholangitis; Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626; Neonatal and Adult Cholestasis; NISCH syndrome; Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome for gene: CLDN1 Publications for gene CLDN1 were changed from to 24641442; 16619213; 15521008; 12164927; 28154377; 29146216 |
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| Cholestasis v0.4 | CLDN1 |
Ivone Leong Source Expert Review Green was added to CLDN1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | CLDN1 | Ivone Leong reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | CLDN1 |
Ivone Leong gene: CLDN1 was added gene: CLDN1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CLDN1 was set to |
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