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  3. IMPDH1
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Congenital nystagmus

Gene: IMPDH1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene also cause RP.

Nystagmus is a typical feature of LCA.
Created: 25 Oct 2021, 7:07 a.m. | Last Modified: 25 Oct 2021, 7:07 a.m.
Panel Version: 0.85

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leber congenital amaurosis 11 MIM#613837

Created: 25 Oct 2021, 7:07 a.m.
Last Modified: 25 Oct 2021, 7:07 a.m.
Panel version: 0.85

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

only 2 unrelated individuals reported with LCA, 1 of whom had roving nystagmus with no fixation to light
Created: 24 Oct 2021, 10:29 p.m. | Last Modified: 24 Oct 2021, 10:29 p.m.
Panel Version: 0.23

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leber congenital amaurosis 11 MIM#613837

Publications

Created: 24 Oct 2021, 10:29 p.m.
Last Modified: 24 Oct 2021, 10:29 p.m.
Panel version: 0.23

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leber congenital amaurosis 11, MIM#613837
OMIM
146690
Clinvar variants
Variants in IMPDH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: impdh1 has been classified as Amber List (Moderate Evidence).

25 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11, MIM#613837

25 Oct 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IMPDH1 were set to

25 Oct 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: impdh1 has been classified as Amber List (Moderate Evidence).

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IMPDH1 was added gene: IMPDH1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: IMPDH1 was set to