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Fetal anomalies v3.111 | NDUFB3 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB3. Tag Q2_23_NHS_review was removed from gene: NDUFB3. |
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Fetal anomalies v3.111 | NDUFB3 | Sarah Leigh reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.110 | NDUFB3 |
Sarah Leigh Source Expert Review Green was added to NDUFB3. Source NHS GMS was added to NDUFB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.37 | NDUFB3 | Arina Puzriakova Publications for gene: NDUFB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.36 | NDUFB3 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB3. Tag Q2_23_NHS_review tag was added to gene: NDUFB3. |
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Fetal anomalies v3.8 | NDUFB3 | Stephanie Allen commented on gene: NDUFB3: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca 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 | NDUFB3 | Stephanie Allen reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22277967; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | NDUFB3 |
Arina Puzriakova gene: NDUFB3 was added gene: NDUFB3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 |