Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: UGT1A1

No list

UGT1A1 (UDP glucuronosyltransferase family 1 member A1)
EnsemblGeneIds (GRCh38): ENSG00000241635
EnsemblGeneIds (GRCh37): ENSG00000241635
OMIM: 191740, Gene2Phenotype
UGT1A1 is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Remove gene from the panel.
Created: 19 Oct 2015, 8:18 a.m.

Sian Ellard (University of Exeter Medical School)

no evidence that mutations cause monogenic diabetes
Created: 18 Oct 2015, 8:23 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Transient Familial Neonatal Hyperbilirubinemia
OMIM
191740
Clinvar variants
Variants in UGT1A1
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

7 Jun 2016, Gel status: 0

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been removed from the panel.

17 Aug 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene UGT1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene UGT1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UGT1A1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services