Ophthalmological ciliopathies

Gene: IMPDH1

Red List (low evidence)

IMPDH1 (inosine monophosphate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000106348
EnsemblGeneIds (GRCh37): ENSG00000106348
OMIM: 146690, Gene2Phenotype
IMPDH1 is in 8 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: retinitis pigmentosa and Leber's congenital amaurosis are not included on this panel
Created: 23 Jan 2017, 4:38 p.m.

History Filter Activity

8 Jul 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: IMPDH1 was added gene: IMPDH1 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: IMPDH1 was set to Phenotypes for gene: IMPDH1 were set to Ciliopathies