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| Fetal anomalies v3.146 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.184 | RECQL4 | Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PMID:29595812:AR maternal variant identified in RECQL4 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis confirmed- single mutation in AR/recessive gene, suggestive of Baller-Gerold syndrome.; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.183 | RECQL4 | Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.153 | RECQL4 | Rebecca Foulger edited their review of gene: RECQL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RECQL4 | Rebecca Foulger reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RECQL4 | Rebecca Foulger Added phenotypes BALLER-GEROLD SYNDROME for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RECQL4 | Rebecca Foulger Added phenotypes ROTHMUND-THOMSON SYNDROME for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME |
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