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Severe Paediatric Disorders v0.12 | NSDHL | Louise Daugherty reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NSDHL | Louise Daugherty Publications for gene NSDHL were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NSDHL | Louise Daugherty Mode of inheritance for gene NSDHL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | NSDHL | Louise Daugherty Added phenotypes CK syndrome, 300831; CHILD syndrome, 308050 for gene: NSDHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NSDHL | Louise Daugherty Added phenotypes CK syndrome, 300831; CHILD syndrome, 308050 for gene: NSDHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NSDHL | Louise Daugherty Added phenotypes CK syndrome, 300831; CHILD syndrome, 308050 for gene: NSDHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | NSDHL | Louise Daugherty Added phenotypes CK syndrome, 300831; CHILD syndrome, 308050 for gene: NSDHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | NSDHL | Louise Daugherty Source Next Generation Children Project was added to NSDHL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | NSDHL |
Louise Daugherty Source Expert Review Green was added to NSDHL. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | NSDHL |
Louise Daugherty gene: NSDHL was added gene: NSDHL was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NSDHL was set to |