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Molecular autopsy

Gene: ATIC

Green List (high evidence)
ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000138363
EnsemblGeneIds (GRCh37): ENSG00000138363
OMIM: 601731, Gene2Phenotype
ATIC is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • AICAR transformylase deficiency (Disorders of purine metabolism)
OMIM
601731
Clinvar variants
Variants in ATIC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Intellectual disability; AICAR transformylase deficiency (Disorders of purine metabolism) for gene: ATIC

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ATIC was added gene: ATIC was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATIC were set to 27604308 Phenotypes for gene: ATIC were set to Intellectual disability; AICAR transformylase deficiency (Disorders of purine metabolism)