Genomics England

GATM

glycine amidinotransferase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebral creatine deficiency syndrome 3, OMIM:612718
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism), arginine:glycine amidinotransferase deficiency, Cerebral creatine deficiency syndrome 3, 612718
Green in Renal tubulopathies R-numbers: R198 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Fanconi renotubular syndrome 1, OMIM:134600
Green in Tubulointerstitial kidney disease R-numbers: R202 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Fanconi renotubular syndrome 1, OMIM:134600
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Fanconi renotubular syndrome 1, OMIM:134600