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| Severe Paediatric Disorders v0.17 | FGFR3 | Louise Daugherty Mode of inheritance for gene FGFR3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | FGFR3 | Louise Daugherty reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | FGFR3 | Louise Daugherty Publications for gene FGFR3 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | FGFR3 | Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FGFR3 | Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FGFR3 | Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | FGFR3 | Louise Daugherty Added phenotypes Achondroplasia, 100800; Muenke syndrome, 602849; SADDAN, 616482; Hypochondroplasia, 146000; LADD syndrome, 149730; Crouzon syndrome with acanthosis nigricans, 612247; Thanatophoric dysplasia, type I, 187600; CATSHL syndrome, 610474; Thanatophoric dysplasia, type II, 187601 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | FGFR3 | Louise Daugherty Source Next Generation Children Project was added to FGFR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | FGFR3 |
Louise Daugherty Source Expert Review Green was added to FGFR3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | FGFR3 |
Louise Daugherty gene: FGFR3 was added gene: FGFR3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FGFR3 was set to |
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