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Intellectual disability syndromic and non-syndromic

Gene: UBR1

Green List (high evidence)

UBR1 (ubiquitin protein ligase E3 component n-recognin 1)
EnsemblGeneIds (GRCh38): ENSG00000159459
EnsemblGeneIds (GRCh37): ENSG00000159459
OMIM: 605981, Gene2Phenotype
UBR1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>50 unrelated families reported, reviewed in PMID: 24599544. Common clinical features include poor growth, intellectual disability, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency.
Created: 9 Aug 2021, 8:30 a.m. | Last Modified: 9 Aug 2021, 8:31 a.m.
Panel Version: 0.4033

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Johanson-Blizzard syndrome (MIM#243800)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Johanson-Blizzard syndrome (MIM#243800)
OMIM
605981
Clinvar variants
Variants in UBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr1 has been classified as Green List (High Evidence).

9 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBR1 were changed from to Johanson-Blizzard syndrome (MIM#243800)

9 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBR1 were set to

9 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBR1 was added gene: UBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBR1 was set to Unknown