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Likely inborn error of metabolism - targeted testing not possible v2.223 AHCY Sarah Leigh Tag for-review was removed from gene: AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.223 AHCY Sarah Leigh commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism - targeted testing not possible v2.222 AHCY Sarah Leigh Source Expert Review Green was added to AHCY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.22 AHCY Arina Puzriakova Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids) to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Disorders of the metabolism of sulphur amino acids
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Mode of inheritance for gene: AHCY was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder due to variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.19 AHCY Arina Puzriakova Publications for gene: AHCY were set to 15024124; 16435181; 16736098; 20852937; 22959829; 26095522; 26527160; 28779239; 30121674; 31957987
Likely inborn error of metabolism - targeted testing not possible v2.19 AHCY Arina Puzriakova Publications for gene: AHCY were set to 15024124; 16435181; 16736098; 20852937; 22959829; 26095522; 26527160; 28779239; 30121674; 31957987
Likely inborn error of metabolism - targeted testing not possible v2.19 AHCY Arina Puzriakova Publications for gene: AHCY were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.18 AHCY Arina Puzriakova Tag treatable tag was added to gene: AHCY.
Tag for-review tag was added to gene: AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.18 AHCY Arina Puzriakova commented on gene: AHCY: Added 'treatable' tag as some patients have shown improvement following dietary management (particularly methionine restriction and supplementation with creatine and phosphatidylcholine)
Likely inborn error of metabolism - targeted testing not possible v2.18 AHCY Arina Puzriakova reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024124, 16435181, 16736098, 20852937, 22959829, 26095522, 26527160, 28779239, 30121674, 31957987; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.47 AHCY Ivone Leong Source NHS GMS was added to AHCY.
Source London North GLH was added to AHCY.
Likely inborn error of metabolism - targeted testing not possible v0.4 AHCY Ellen McDonagh gene: AHCY was added
gene: AHCY was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 27604308
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids)