Fetal anomalies
Gene: AHCY
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
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.Created: 25 Sep 2020, 11:43 a.m. | Last Modified: 25 Sep 2020, 11:43 a.m.
Panel Version: 1.96
PMID: 31957987. Bas et al., 2020 report one child with compound het variants (c.170C>T, p.T57I and c.649G>A, p.V217M) in AHCY. The patient presented foetal hydrops, diffuse oedema, coagulopathy, CNS abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Metabolic parameters showed normal methionine levels, but AdoMet and AdoHcy could not be measured.Created: 25 Sep 2020, 11:41 a.m. | Last Modified: 25 Sep 2020, 11:41 a.m.
Panel Version: 1.95
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Publications
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.Created: 5 May 2020, 4:04 p.m. | Last Modified: 5 May 2020, 4:04 p.m.
Panel Version: 1.45
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.Created: 5 May 2020, 4:02 p.m. | Last Modified: 5 May 2020, 4:02 p.m.
Panel Version: 1.44
PMID:30121674. Judkins et al., 2018 report an infant with a prenatal diagnosis of non-immune hydrops. The infant was born with phenotypes including hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension. Life support was withdrawn at 7 days. Novel compound het variants in the AHCY were found. Full text not available.Created: 5 May 2020, 4:02 p.m. | Last Modified: 5 May 2020, 4:02 p.m.
Panel Version: 1.44
Please note recent additional report of this condition presenting prenatally with hydrops.
Sources: Expert listCreated: 30 Dec 2019, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
S-adenosylhomocysteine hydrolase deficiency
Publications
Tag for-review was removed from gene: AHCY.
Source Expert Review Green was added to AHCY. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: AHCY were set to 30121674; 20852937
Gene: ahcy has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: AHCY.
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
Gene: ahcy has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency to S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
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