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| Fetal anomalies v0.329 | SLC4A4 | Rebecca Foulger Publications for gene: SLC4A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.328 | SLC4A4 | Rebecca Foulger commented on gene: SLC4A4: SLC4A4 was re-reviewed by Anna de Burca (Genomics England clinical team) to determine if patients presented with cataracts. Anna notes that there aren’t very many published cases and not all had cataracts. Of those that did, PMID:16636648 cataracts were definitely not congenital and in PMID:11131345 they were only picked up at 4 years so probably not congenital either. Therefore appropriate to remain Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.229 | SLC4A4 |
Rebecca Foulger Source Expert Review Red was added to SLC4A4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.228 | SLC4A4 | Rebecca Foulger edited their review of gene: SLC4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: Phenotype is not fetally-relevant. Action taken: Demoted SLC4A4 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC4A4 | Rebecca Foulger reviewed gene: SLC4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC4A4 |
Rebecca Foulger gene: SLC4A4 was added gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES |
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