PanelApp
  1. Genes and Genomic Entities
  2. AHCY

AHCY

adenosylhomocysteinase
OMIM: 180960, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber AHCY in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • 613752

Green AHCY in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Tags
  • treatable

Green AHCY in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Tags
  • treatable

Green AHCY in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.26

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Expert list
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752

    Green AHCY in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
    • disorder of methionine metabolism
    Tags
    • treatable

    Amber AHCY in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    • Genetic Health Queensland
    Phenotypes
    • S-adenosylhomocysteine hydrolase deficiency
    • Fetal hydrops
    • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752

    Green AHCY in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404

    Green AHCY in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752
    Tags
    • treatable
    • metabolic