GATM

glycine amidinotransferase
OMIM: 602360, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GATM in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GATM in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718 Fanconi renotubular syndrome 1, MIM# 134600
Green GATM in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi renotubular syndrome 1, MIM# 134600
Amber GATM in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718
Green GATM in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718
Green GATM in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718
Green GATM in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 3, 612718 (3)
Green GATM in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebral creatine deficiency syndrome 3 MIM#612718
Red GATM in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718
Green GATM in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 3, 612718 (3)
Green GATM in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes AGAT deficiency MONDO:0012996
Green GATM in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral creatine deficiency syndrome 3 MIM#612718 Tags treatable metabolic
Green GATM in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green Expert list Expert Review Green NHS GMS Expert Review Green KidGen_Tubulopathies v38.1.0 Phenotypes Fanconi renotubular syndrome 1, MIM# 134600
Green GATM in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 3, 612718 (3)