1. Panels
  2. Retinitis pigmentosa_Autosomal Dominant
  3. IMPDH1
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Dominant

Gene: IMPDH1

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

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 Mar 2020, 10:54 p.m. | Last Modified: 25 Mar 2020, 10:54 p.m.
Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 25 Mar 2020, 10:54 p.m.
Last Modified: 25 Mar 2020, 10:54 p.m.
Panel version: Imported from Retinitis Pigmentosa panel version 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 10, 180105
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 11
OMIM
146690
Clinvar variants
Variants in IMPDH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: impdh1 has been classified as Green List (High Evidence).

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IMPDH1 were set to

25 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IMPDH1 was added gene: IMPDH1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IMPDH1 were set to Retinitis pigmentosa 10, 180105; Leber Congenital Amaurosis; Leber congenital amaurosis 11