Ocular coloboma
Gene: B3GALT1
B3GALT1 (beta-1,3-galactosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000172318
EnsemblGeneIds (GRCh37): ENSG00000172318
OMIM: 603093, Gene2Phenotype
B3GALT1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000172318
EnsemblGeneIds (GRCh37): ENSG00000172318
OMIM: 603093, Gene2Phenotype
B3GALT1 is in 2 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Demoted to grey gene status as this gene is not relevant and should have been B3GLCT instead.Created: 15 Apr 2019, 10:51 a.m.
Alice Gardham (Genomics England)
Coloboma occasionally seen in Peters Plus syndromeCreated: 17 Nov 2016, 10:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome, 261540
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Peters-plus syndrome, 261540
- Tags
- OMIM
- 603093
- Clinvar variants
- Variants in B3GALT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: B3GALT1.
15 Apr 2019, Gel status: 0
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: b3galt1 has been removed from the panel.
6 Feb 2017, Gel status: 3
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
17 Nov 2016, Gel status: 3
Added New Source
Alice Gardham (Genomics England)B3GALT1 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
17 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)B3GALT1 was created by agardham