GALE

Green GALE in Bleeding and Platelet Disorders

Level 2: Haematological disorders
Version 1.52

Sources

• Expert Review Green
• Expert list

Phenotypes

• Thrombocytopenia 12, syndromic, MIM#620776

Green GALE in Bone Marrow Failure

Level 2: Haematological disorders
Version 1.112

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review

Phenotypes

• Thrombocytopenia 12, syndromic, MIM#620776

Green GALE in Mendeliome

Version 1.2302

Sources

• Expert Review Green
• NHS GMS
• Victorian Clinical Genetics Services

Phenotypes

• Galactose epimerase deficiency MIM#230350
• Thrombocytopenia 12, syndromic, MIM#620776

Tags

• treatable

Green GALE in Intellectual disability syndromic and non-syndromic

Level 2: Neurology and neurodevelopmental disorders
Version 1.63

Sources

• Expert Review Green
• Genetic Health Queensland

Phenotypes

• galactose epimerase deficiency MONDO:0009257

Tags

• treatable

Green GALE in Miscellaneous Metabolic Disorders

Level 2: Metabolic disorders
Version 1.48

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Galactose epimerase deficiency MIM#230350
• Disorders of galactose metabolism

Tags

• treatable

Green GALE in Fetal anomalies

Version 1.313

Sources

• Expert Review Green
• Genomics England PanelApp

Phenotypes

• Galactose epimerase deficiency MIM#230350

Green GALE in BabyScreen+ newborn screening

Level 2: Screening
Version 1.116

Sources

• Expert Review Green
• BeginNGS

Phenotypes

• Galactose epimerase deficiency , MIM#230350

Tags

• treatable
• metabolic