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| Pigmentary skin disorders v3.11 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thompson syndrome; RTS2; RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 to Baller-Gerold syndrome, OMIM:218600; Rothmund-Thomson syndrome, type 2, OMIM:268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | RECQL4 |
Catherine Snow Added phenotypes RTS2; RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 for gene: RECQL4 Publications for gene RECQL4 were changed from to 12952869; 10319867 |
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| Pigmentary skin disorders v0.25 | RECQL4 | Tom Cullup reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10319867, 12952869; Phenotypes: RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2, RTS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | RECQL4 | Rebecca Foulger Source London North GLH was added to RECQL4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | RECQL4 | Rebecca Foulger reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Rothmund-Thompson syndrome |
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