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DDG2P

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 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease AICA-RIBOSURIA, OMIM:608688 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:15114530).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AICA-RIBOSURIA, OMIM:608688

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICA-RIBOSURIA 608688
OMIM
601731
Clinvar variants
Variants in ATIC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ATIC was added gene: ATIC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATIC were set to 15114530 Phenotypes for gene: ATIC were set to AICA-RIBOSURIA 608688