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| Fetal anomalies v0.183 | ACTB | Rebecca Foulger edited their review of gene: ACTB: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.161 | ACTB | Rebecca Foulger edited their review of gene: ACTB: 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 v0.44 | ACTB | Rebecca Foulger commented on gene: ACTB: Removed watchlist tag following clinical review by Anna de Burca. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.44 | ACTB | Rebecca Foulger Tag watchlist was removed from gene: ACTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.44 | ACTB | Rebecca Foulger Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.44 | ACTB | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review and email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. As summarised by Anna there is good evidence for GOF variants causing Baraitser-Winter syndrome plus some evidence for LOF variants associated (in some cases) with structural anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.44 | ACTB | Rebecca Foulger Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.43 | ACTB | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Anna notes that there is good evidence for GOF variants causing Baraitser-Winter syndrome but there is also a paper from DDD (PMID:29220674) reporting LOF variants associated predominantly with developmental delay but in some cases structural anomalies including congenital heart defects and/or CAKUT- this may not be a severe enough prenatal phenotype for inclusion in a fetal panel but overall Anna notes that it is probably reasonable to report any variants in this gene, whether GOF or LOF. Therefore no exception to LOF was added to the MOP section. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.43 | ACTB | Rebecca Foulger Mode of pathogenicity for gene: ACTB was changed from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.42 | ACTB | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI to 'NOT imprinted' based on Anna's review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.42 | ACTB | Rebecca Foulger Mode of inheritance for gene: ACTB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.34 | ACTB | Anna de Burca reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22366783, 29220674, 26275891; Phenotypes: Baraitser-Winter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ACTB | Rebecca Foulger Tag watchlist tag was added to gene: ACTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ACTB | Rebecca Foulger commented on gene: ACTB: 'watchlist' tag added to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ACTB | Rebecca Foulger reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ACTB | Rebecca Foulger Added phenotypes ACTB Haploinsufficiency syndtome for gene: ACTB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ACTB |
Rebecca Foulger gene: ACTB was added gene: ACTB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME |
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