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DDG2P v3.12 | RECQL4 | Achchuthan Shanmugasundram reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11754069, 12952869, 15964893, 12734318, 10319867, 20503338, 12838562, 9934984, 10678659, 9878247; Phenotypes: BALLER-GEROLD SYNDROME, OMIM:218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | RECQL4 | Achchuthan Shanmugasundram Publications for gene: RECQL4 were updated from 11754069; 15964893; 9934984 to 11754069; 12952869; 12734318; 15964893; 10319867; 20503338; 12838562; 9878247; 10678659; 9934984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | RECQL4 | Rebecca Foulger reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | RECQL4 |
Rebecca Foulger Added phenotypes BALLER-GEROLD SYNDROME 218600 for gene: RECQL4 Publications for gene RECQL4 were changed from 10319867; 9878247; 20503338; 12838562; 12734318; 10678659 to 11754069; 15964893; 9934984 |
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DDG2P v0.1 | RECQL4 |
Rebecca Foulger Added phenotypes ROTHMUND-THOMSON SYNDROME 268400 for gene: RECQL4 Publications for gene RECQL4 were changed from 12952869 to 10319867; 9878247; 20503338; 12838562; 12734318; 10678659 |
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DDG2P v0.1 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 12952869 Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME 266280 |