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| Fetal anomalies v1.619 | GDF6 | Arina Puzriakova Phenotypes for gene: GDF6 were changed from MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1 to MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1; Syndromic CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.618 | GDF6 | Arina Puzriakova Publications for gene: GDF6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.121 | GDF6 | Zornitza Stark reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32737436; Phenotypes: Syndromic CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | GDF6 | Rebecca Foulger edited their review of gene: GDF6: 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 | GDF6 | Rebecca Foulger commented on gene: GDF6: DDG2P rating in original PAGE list: Confirmed for KLIPPEL-FEIL SYNDROME TYPE 1 and Confirmed for MICROPHTHALMIA ISOLATED TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | GDF6 | Rebecca Foulger reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GDF6 | Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 4 for gene: GDF6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GDF6 |
Rebecca Foulger gene: GDF6 was added gene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1 |
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