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Mendeliome

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 11 (MIM# 613837)
  • Retinitis pigmentosa 10 (MIM# 180105)
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 Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)

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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IMPDH1 was set to Unknown