Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: UGT1A1EnsemblGeneIds (GRCh38): ENSG00000241635
EnsemblGeneIds (GRCh37): ENSG00000241635
OMIM: 191740, Gene2Phenotype
UGT1A1 is in 9 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 diabetesCreated: 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
- Tags
- OMIM
- 191740
- Clinvar variants
- Variants in UGT1A1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: UGT1A1.
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been removed from the panel.
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
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
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