Bilateral congenital or childhood onset cataracts
Gene: GALTEnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 11 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and is a Confirmed DD gene for galactosemia (includes cataract).Created: 29 Apr 2016, 11:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Confirmed DD gene for galactosemia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Galactosemia, OMIM:230400
- OMIM
- 606999
- Clinvar variants
- Variants in GALT
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- DDG2P
- Primary ovarian insufficiency
- Structural eye disease
- Intellectual disability
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GALT were changed from Confirmed DD gene for galactosemia to Galactosemia, OMIM:230400
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GALT were set to Confirmed DD gene for galactosemia
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GALT was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()GALT was added to Cataractspanel. Sources: UKGTN