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| Fetal anomalies v3.111 | AARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: AARS2. Tag Q2_23_NHS_review was removed from gene: AARS2. |
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| Fetal anomalies v3.111 | AARS2 | Sarah Leigh reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | AARS2 |
Sarah Leigh Source Expert Review Green was added to AARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.10 | AARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AARS2. Tag Q2_23_NHS_review tag was added to gene: AARS2. |
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| Fetal anomalies v3.10 | AARS2 | Arina Puzriakova Phenotypes for gene: AARS2 were changed from Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; fetal hydrops; cardiomyopathy; polyhydramnios; Combined oxidative phosphorylation deficiency 8, OMIM:614096; pulmonary effusion to Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Combined oxidative phosphorylation deficiency 8, OMIM:614096; fetal hydrops; cardiomyopathy; polyhydramnios; pulmonary effusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.9 | AARS2 | Arina Puzriakova Publications for gene: AARS2 were set to 30819764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.8 | AARS2 | Stephanie Allen commented on gene: AARS2: 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 | AARS2 | Stephanie Allen reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30819764, 28822227, 21549344; Phenotypes: Combined oxidative phosphorylation deficiency 8, OMIM:614096, Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | AARS2 |
Arina Puzriakova Source Expert Review Amber was added to AARS2. Added phenotypes Combined oxidative phosphorylation deficiency 8, OMIM:614096; Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889 for gene: AARS2 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Fetal anomalies v3.1 | AARS2 |
Patrick Campbell gene: AARS2 was added gene: AARS2 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 30819764 Phenotypes for gene: AARS2 were set to fetal hydrops; polyhydramnios; pulmonary effusion; cardiomyopathy Penetrance for gene: AARS2 were set to Complete Mode of pathogenicity for gene: AARS2 was set to Other Review for gene: AARS2 was set to GREEN Added comment: This gene is not on R21. It can cause fetal phenotype and early neonatal death with bi-allelic variants. We had a fetus present locally with fetal hydrops from around 28 weeks. The result was discovered on whole genome sequencing after miscarriage (R14). It would not have been identified on R21 for fetal anomalies. The local finding of presentation antenatally is corroborated by recent publication (PMID 30819764) with a case showing polyhydramnios and nonimmune hydrops, with small pulmonary effusions and significant ascites first detected at 35 wk of pregnancy. Consideration should be given to adding the gene to R21. Sources: NHS GMS |
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| Fetal anomalies v1.123 | AARS | Arina Puzriakova Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.339 | AARS | Louise Daugherty Tag new-gene-name tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.339 | AARS | Louise Daugherty commented on gene: AARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AARS | Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FGD1 |
Rebecca Foulger gene: FGD1 was added gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME |
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| Fetal anomalies v0.1 | AARS |
Rebecca Foulger gene: AARS was added gene: AARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. |
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