| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.836 | AHCY | Arina Puzriakova Tag for-review was removed from gene: AHCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | AHCY | Arina Puzriakova commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | AHCY |
Arina Puzriakova Source Expert Review Green was added to AHCY. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.97 | AHCY | Arina Puzriakova Publications for gene: AHCY were set to 30121674; 20852937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.96 | AHCY | Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.96 | AHCY | Arina Puzriakova Added comment: Comment on list classification: With addition of the recent publication (PMID:31957987) describing a patient with foetal hydrops, among other features, there is now sufficient evidence to rate this gene GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.96 | AHCY | Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | AHCY | Arina Puzriakova Tag for-review tag was added to gene: AHCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | AHCY | Arina Puzriakova reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: 31957987; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.46 | AHCY | Rebecca Foulger Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 to Fetal hydrops; S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.45 | AHCY | Rebecca Foulger Classified gene: AHCY as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.45 | AHCY | Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Two unrelated families with hydrops reported (PMID:30121674, 20852937). Note that previous reports of AHCY deficiency do not include hydrops (e.g. PMID:15024124). Overall, phenotype is relevant to the panel but currently insufficient evidence for Green rating. Rated Amber awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.45 | AHCY | Rebecca Foulger Gene: ahcy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.44 | AHCY | Rebecca Foulger commented on gene: AHCY: PMID:20852937. Grubbs et al., 2010 report 2 sisters born with fetal hydrops and compound het for 2 variants in AHCY (p.Arg49Cys and p.Asp86Gly). Phenotypes included severe hypotonia/myopathy, feeding problems, and respiratory failure. The sisters died age 25 days and 122 days. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.44 | AHCY | Rebecca Foulger commented on gene: AHCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.44 | AHCY | Rebecca Foulger Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency to S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.0 | AHCY |
Zornitza Stark gene: AHCY was added gene: AHCY was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 30121674; 20852937 Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency Review for gene: AHCY was set to AMBER Added comment: Please note recent additional report of this condition presenting prenatally with hydrops. Sources: Expert list |
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