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| Fetal anomalies v1.972 | RAX | Sarah Leigh Phenotypes for gene: RAX were changed from MICROPHTHALMIA ISOLATED TYPE 3 to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.971 | RAX | Sarah Leigh Publications for gene: RAX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.219 | GDF2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with 2 sibs affected by lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis. Homozygous truncating variant in GDF2 was detected which segregated with the disorder (PMID:32618121). Rating Red as additional cases/functional evidence required to corroborate this gene-disease association. |
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| Fetal anomalies v1.95 | GDF2 |
Zornitza Stark gene: GDF2 was added gene: GDF2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops Review for gene: GDF2 was set to RED Added comment: Single family reported, two affected individuals. New MOI. Monoallelic variants in this gene are associated with HHT/PAH. Sources: Literature |
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| Fetal anomalies v0.153 | RAX | Rebecca Foulger edited their review of gene: RAX: 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 | RAX | Rebecca Foulger reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHD3 | Rebecca Foulger commented on gene: CHD3: DDG2P rating in original PAGE list: Probable for Apraxia of speech | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RAX |
Rebecca Foulger gene: RAX was added gene: RAX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3 |
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| Fetal anomalies v0.1 | PNKP | Rebecca Foulger Added phenotypes ATAXIA-OCULOMOTOR APRAXIA 4 for gene: PNKP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CHD3 |
Rebecca Foulger gene: CHD3 was added gene: CHD3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech |
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| Fetal anomalies v0.1 | APTX |
Rebecca Foulger gene: APTX was added gene: APTX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 |
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