1. Panels
  2. Likely inborn error of metabolism
  3. ATIC
Genes in panel
Prev Next

Likely inborn error of metabolism

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

2 reviews

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
608688

Created: 10 Feb 2017, 12:40 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.275

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:56 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Created: 6 Jan 2017, 1:56 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • 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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATIC. Source London North GLH was added to ATIC.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 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 Inborn errors of metabolism. 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)