Miscellaneous Metabolic Disorders
Gene: GALTEnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia MIM#230400
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 4:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Galactosemia MIM#230400; Disorders of galactose metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Galactosemia MIM#230400
- Disorders of galactose metabolism
- Tags
- OMIM
- 606999
- Clinvar variants
- Variants in GALT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
History Filter Activity
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: GALT.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: galt has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: galt has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GALT was added gene: GALT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GALT were set to 27604308; 2011574 Phenotypes for gene: GALT were set to Galactosemia MIM#230400; Disorders of galactose metabolism Review for gene: GALT was set to GREEN gene: GALT was marked as current diagnostic