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  3. UHRF1
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Imprinting disorders

Gene: UHRF1

Red List (low evidence)
UHRF1 (ubiquitin like with PHD and ring finger domains 1)
EnsemblGeneIds (GRCh38): ENSG00000276043
EnsemblGeneIds (GRCh37): ENSG00000034063
OMIM: 607990, Gene2Phenotype
UHRF1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family only.
Created: 17 Oct 2021, 7:04 a.m. | Last Modified: 17 Oct 2021, 7:04 a.m.
Panel Version: 0.34
Created: 17 Oct 2021, 7:04 a.m.
Last Modified: 17 Oct 2021, 7:04 a.m.
Panel version: 0.34

Anna Le Fevre (Victorian Clinical Genetics Services)

I don't know

Proposed classification: Amber, pending further evidence.

Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and Silver Russell Syndrome phenotype.

Maenohara et al demonstrate functions of UHRF1 during the global epigenetic reprogramming of oocytes and early embryos.
Sources: Literature
Created: 15 Oct 2021, 2:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multi locus imprinting disturbance in offspring

Publications

Created: 15 Oct 2021, 2:20 a.m.

Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Multi locus imprinting disturbance in offspring
OMIM
607990
Clinvar variants
Variants in UHRF1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uhrf1 has been classified as Red List (Low Evidence).

17 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uhrf1 has been classified as Amber List (Moderate Evidence).

17 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uhrf1 has been classified as Amber List (Moderate Evidence).

15 Oct 2021, Gel status: 0

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

Anna Le Fevre (Victorian Clinical Genetics Services)

gene: UHRF1 was added gene: UHRF1 was added to Imprinting disorders. Sources: Literature Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UHRF1 were set to 29574422; 28976982 Phenotypes for gene: UHRF1 were set to Multi locus imprinting disturbance in offspring Penetrance for gene: UHRF1 were set to unknown Review for gene: UHRF1 was set to AMBER