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Fetal anomalies v1.836 | EIF2S3 | Arina Puzriakova Tag for-review was removed from gene: EIF2S3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | EIF2S3 | Arina Puzriakova commented on gene: EIF2S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | EIF2S3 |
Arina Puzriakova Source Expert Review Green was added to EIF2S3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.386 | EIF2S3 | Arina Puzriakova Phenotypes for gene: EIF2S3 were changed from Syndromic ID with severe microcephaly to MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.382 | EIF2S3 | Arina Puzriakova Classified gene: EIF2S3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.382 | EIF2S3 | Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.382 | EIF2S3 | Arina Puzriakova Gene: eif2s3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.381 | EIF2S3 | Arina Puzriakova Tag for-review tag was added to gene: EIF2S3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.215 | EIF2S3 | Rhiannon Mellis reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MEHMO syndrome, 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | EIF2S3 | Rebecca Foulger reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | EIF2S3 |
Rebecca Foulger gene: EIF2S3 was added gene: EIF2S3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly |