GALT

galactose-1-phosphate uridylyltransferase
OMIM: 606999, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green GALT in Cataract Level 2: Ophthalmological disorders Version 0.375	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green GALT in Cholestasis Level 2: Gastroenterological disorders Version 1.5 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosemia, MIM# 230400 Tags treatable
Green GALT in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Galactosaemia MIM#230400 Disorders of galactose metabolism Tags treatable
Green GALT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Galactosemia, MIM#230400 Tags treatable
Green GALT in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.288 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Galactosemia, MIM#230400 Tags treatable
Green GALT in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosemia, 230400 (3)
Green GALT in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.388	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Phenotypes Primary ovarian failure, MONDO:0005387 Galactosemia MIM#230400 Tags treatable
Green GALT in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Galactosaemia
Green GALT in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.30 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Galactosaemia, MIM#230400 Tags treatable
Green GALT in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.57 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactosemia MIM#230400 Disorders of galactose metabolism Tags treatable
Red GALT in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Galactosaemia, MIM#230400
Green GALT in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosemia MIM# 230400
Green GALT in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Galactosaemia, MIM#230400 Tags treatable metabolic
Green GALT in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosaemia MIM# 230400
Green GALT in Infertility and Recurrent Pregnancy Loss Version 1.50	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galactosaemia, MIM# 230400 Premature ovarian failure