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  3. ATIC
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Miscellaneous Metabolic Disorders

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 cases from 3 independent families. Deficiency causes an inborn error of purine metabolism.
Sources: NHS GMS
Created: 1 Feb 2021, 4:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism

Publications

Created: 1 Feb 2021, 4:57 a.m.

Panel version: 0.88

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

AICA-ribosuria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis. Three unrelated families reported.
Created: 28 Dec 2020, 10:44 a.m. | Last Modified: 28 Dec 2020, 10:44 a.m.
Panel Version: 0.5845

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AICA-ribosiduria due to ATIC deficiency, MIM# 608688

Publications

Created: 28 Dec 2020, 10:44 a.m.
Last Modified: 28 Dec 2020, 10:44 a.m.
Panel version: Imported from Mendeliome panel version 0.5845

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • AICA-ribosiduria due to ATIC deficiency MIM#608688
  • disorders of purine metabolism
OMIM
601731
Clinvar variants
Variants in ATIC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atic has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atic has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATIC was added gene: ATIC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATIC were set to 15114530; 32557644 Phenotypes for gene: ATIC were set to AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism Review for gene: ATIC was set to GREEN