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Severe Paediatric Disorders v0.17 | DONSON | Louise Daugherty Mode of inheritance for gene DONSON was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | DONSON | Louise Daugherty reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | DONSON | Louise Daugherty Publications for gene DONSON were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | DONSON | Louise Daugherty Added phenotypes Microcephaly, short stature, and limb abnormalities, 617604; Microcephaly-micromelia syndrome, 251230 for gene: DONSON | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DONSON | Louise Daugherty Added phenotypes Microcephaly, short stature, and limb abnormalities, 617604; Microcephaly-micromelia syndrome, 251230 for gene: DONSON | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DONSON | Louise Daugherty Added phenotypes Microcephaly, short stature, and limb abnormalities, 617604; Microcephaly-micromelia syndrome, 251230 for gene: DONSON | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | DONSON | Louise Daugherty Added phenotypes Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 for gene: DONSON | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | DONSON | Louise Daugherty Source Next Generation Children Project was added to DONSON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | DONSON |
Louise Daugherty Source Expert Review Green was added to DONSON. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | DONSON |
Louise Daugherty gene: DONSON was added gene: DONSON was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DONSON was set to |