Fetal hydrops
Gene: AHCY
Comment on list classification: Updated rating from Amber to Green based on additional 2020 paper (PMID:31957987) which reports an infant with foetal hydrops - taking the total number of families to three.Created: 25 Sep 2020, 11:51 a.m. | Last Modified: 25 Sep 2020, 11:51 a.m.
Panel Version: 1.23
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, 11:48 a.m. | Last Modified: 25 Sep 2020, 11:48 a.m.
Panel Version: 1.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Publications
Please note recent additional report of this condition presenting prenatally with hydrops.Created: 30 Dec 2019, 3:27 a.m. | Last Modified: 30 Dec 2019, 3:27 a.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
S-adenosylhomocysteine hydrolase deficiency
Publications
Comment on list classification: Updated rating from Red to Amber based on additional 2018 paper highlighted by Zornitza Stark (PMID:30121674) which reports an infant with non-immune hydrops. This takes total number of families to two.Created: 5 May 2020, 4:06 p.m. | Last Modified: 5 May 2020, 4:06 p.m.
Panel Version: 1.18
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 Life support was withdrawn at 7 days.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, 4:05 p.m. | Last Modified: 5 May 2020, 4:05 p.m.
Panel Version: 1.17
PMID:20852937 reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.Created: 21 Dec 2016, 11:56 a.m.
Gene: ahcy has been classified as Green List (High Evidence).
Phenotypes for gene: AHCY were changed from Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; S-adenosylhomocysteine hydrolase deficiency; AHCY deficiency to non-immune hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; S-adenosylhomocysteine hydrolase deficiency; AHCY deficiency
Gene: ahcy has been classified as Amber List (Moderate Evidence).
Publications for gene: AHCY were set to 23137060; 20852937
21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
AHCY was added to Fetal hydropspanel. Sources: Literature
AHCY was created by rfoulger