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Severe Paediatric Disorders v0.12 | RECQL4 | Louise Daugherty reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | RECQL4 | Louise Daugherty Publications for gene RECQL4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | RECQL4 | Louise Daugherty Mode of inheritance for gene RECQL4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | RECQL4 | Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | RECQL4 | Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | RECQL4 | Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | RECQL4 | Louise Daugherty Added phenotypes Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome, type 2,, 268400; RAPADILINO syndrome, 266280 for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | RECQL4 | Louise Daugherty Source Next Generation Children Project was added to RECQL4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | RECQL4 |
Louise Daugherty Source Expert Review Green was added to RECQL4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | RECQL4 |
Louise Daugherty gene: RECQL4 was added gene: RECQL4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RECQL4 was set to |