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Intellectual disability syndromic and non-syndromic

Gene: UBR4

Red List (low evidence)

UBR4 (ubiquitin protein ligase E3 component n-recognin 4)
EnsemblGeneIds (GRCh38): ENSG00000127481
EnsemblGeneIds (GRCh37): ENSG00000127481
OMIM: 609890, Gene2Phenotype
UBR4 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Borderline gene-disease association, phenotypes reported are episodic ataxia and progressive neurological deterioration rather than ID.
Created: 6 Feb 2020, 4:16 a.m. | Last Modified: 6 Feb 2020, 4:16 a.m.
Panel Version: 0.1992

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

Originally reported in a single family, more recently reported in Korean cohort as modifier gene. Also reported as a candidate gene in a paper, in a child with progressive neurological deterioration.
Created: 6 Feb 2020, 4:06 a.m. | Last Modified: 6 Feb 2020, 4:06 a.m.
Panel Version: 0.1992

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Episodic ataxia
OMIM
609890
Clinvar variants
Variants in UBR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr4 has been classified as Red List (Low Evidence).

6 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBR4 were changed from Episodic ataxia to Episodic ataxia

6 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBR4 were changed from to Episodic ataxia

6 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBR4 were set to

6 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr4 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBR4 was added gene: UBR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBR4 was set to Unknown