Activity
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7 actions
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| Fetal anomalies v5.16 | ABCD4 | Achchuthan Shanmugasundram commented on gene: ABCD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | ABCD4 | Alice Gardham reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type, MIM#614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | ABCD4 |
Achchuthan Shanmugasundram Source NHS GMS was added to ABCD4. Publications for gene: ABCD4 were updated from to 33729671 |
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| Fetal anomalies v5.11 | ABCD4 | Achchuthan Shanmugasundram Phenotypes for gene: ABCD4 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE to Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | ABCD4 | Rebecca Foulger commented on gene: ABCD4: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCD4 | Rebecca Foulger reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ABCD4 |
Rebecca Foulger gene: ABCD4 was added gene: ABCD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE |
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