Activity
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7 actions
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| Prepair 1000+ v1.482 | RECQL4 | Zornitza Stark Marked gene: RECQL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.482 | RECQL4 | Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.482 | RECQL4 | Zornitza Stark Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600 (3) to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.481 | RECQL4 | Zornitza Stark Publications for gene: RECQL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.470 | RECQL4 |
Shakira Heerah changed review comment from: Rothmund-Thomson Syndrome, Type 2 - Osteosarcoma in 23 patients RAPADILINO Syndrome - 10 finnish families ○ Short stature ○ Radial ray defects ○ Infantile diarrhoea - No significant cancer risk Baller-Gerold Syndrome - Radial aplasia/hypoplasia - Craniosynostosis Clinical overlap between all three phenotypes Most cases in infancy and childhood Severe phenotype: neonatal death, respiratory failure Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607); to: Rothmund-Thomson Syndrome, Type 2 - Osteosarcoma in 23 patients RAPADILINO Syndrome - 10 finnish families ○ Short stature ○ Radial ray defects ○ Infantile diarrhoea - No significant cancer risk Baller-Gerold Syndrome - Radial aplasia/hypoplasia - Craniosynostosis Clinical overlap between all three phenotypes Most cases in infancy and childhood Severe phenotype: neonatal death, respiratory failure Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607) |
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| Prepair 1000+ v1.470 | RECQL4 | Shakira Heerah reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39315607, 39324487, 12952869, 15964893, 10319867, 12734318; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3) |
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