Nucleotide metabolism disorders
Gene: IMPDH1

IMPDH1 (inosine monophosphate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000106348
EnsemblGeneIds (GRCh37): ENSG00000106348
OMIM: 146690, Gene2Phenotype
IMPDH1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 families with RP and 2 unrelated patients with LCA functional studies demonstrated reduced nucleic acid binding, not enzymatic activities
Created: 25 Oct 2021, 7:09 a.m. | Last Modified: 25 Oct 2021, 7:09 a.m.

Panel Version: 0.9476

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)

Publications

16384941

Created: 25 Oct 2021, 7:09 a.m.
Last Modified: 25 Oct 2021, 7:09 a.m.
Panel version: Imported from Mendeliome panel version 0.9476

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Disorders of purine metabolism
retinitis pigmentosa MONDO:0019200

OMIM

146690

Clinvar variants

Variants in IMPDH1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IMPDH1 was added gene: IMPDH1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IMPDH1 were set to 11875049; 16384941; 11875050 Phenotypes for gene: IMPDH1 were set to Disorders of purine metabolism; retinitis pigmentosa MONDO:0019200

Nucleotide metabolism disorders Gene: IMPDH1