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Fetal anomalies v3.111 | C19orf70 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: C19orf70. Tag Q2_23_NHS_review was removed from gene: C19orf70. |
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Fetal anomalies v3.111 | C19orf70 | Sarah Leigh reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.110 | C19orf70 |
Sarah Leigh Source Expert Review Green was added to C19orf70. Source NHS GMS was added to C19orf70. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.12 | C19orf70 | Arina Puzriakova Publications for gene: C19orf70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.11 | C19orf70 | Arina Puzriakova Tag new-gene-name tag was added to gene: C19orf70. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.11 | C19orf70 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C19orf70. Tag Q2_23_NHS_review tag was added to gene: C19orf70. |
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Fetal anomalies v3.8 | C19orf70 | Stephanie Allen commented on gene: C19orf70: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | C19orf70 | Stephanie Allen reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 27485409, 29618761; Phenotypes: Combined oxidative phosphorylation deficiency 37, OMIM:618329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | C19orf70 |
Arina Puzriakova gene: C19orf70 was added gene: C19orf70 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, OMIM:618329 |