Structural eye disease
Gene: IMPDH1

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 10; Leber congenital amaurosis 11; 180105; 613837

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 10, 180105; Leber congenital amaurosis 11, 613837

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Leber congenital amaurosis 11, 613837
Retinitis pigmentosa 10, 180105
Eye Disorders

OMIM

146690

Clinvar variants

Variants in IMPDH1

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IMPDH1. Mode of inheritance for gene IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Leber congenital amaurosis 11, 613837; Retinitis pigmentosa 10, 180105 for gene: IMPDH1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: IMPDH1 was added gene: IMPDH1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: IMPDH1 was set to Phenotypes for gene: IMPDH1 were set to Eye Disorders

Structural eye disease Gene: IMPDH1