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| Fetal anomalies v3.111 | ECHS1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: ECHS1. Tag Q2_23_NHS_review was removed from gene: ECHS1. |
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| Fetal anomalies v3.111 | ECHS1 | Sarah Leigh reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | ECHS1 |
Sarah Leigh Source Expert Review Green was added to ECHS1. Source NHS GMS was added to ECHS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.22 | ECHS1 | Arina Puzriakova Publications for gene: ECHS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.21 | ECHS1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ECHS1. Tag Q2_23_NHS_review tag was added to gene: ECHS1. |
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| Fetal anomalies v3.8 | ECHS1 | Stephanie Allen commented on gene: ECHS1: 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 | ECHS1 | Stephanie Allen reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30918357, 26920905, 26000322; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | ECHS1 |
Arina Puzriakova gene: ECHS1 was added gene: ECHS1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 |
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