Liver Failure_Paediatric
Gene: GALT
GALT (galactose-1-phosphate uridylyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Most individuals present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include intellectual disability, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism.
Commonly part of newborn screening program but currently not in Victoria.
Sources: Expert listCreated: 1 Nov 2020, 12:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosaemia, MIM#230400
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Galactosaemia, MIM#230400
- Tags
- OMIM
- 606999
- Clinvar variants
- Variants in GALT
- Penetrance
- None
- 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
5 Oct 2022, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: GALT.
1 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: galt has been classified as Green List (High Evidence).
1 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: galt has been classified as Green List (High Evidence).
1 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GALT was added gene: GALT was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosaemia, MIM#230400 Review for gene: GALT was set to GREEN