| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | 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 Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebral creatine deficiency syndrome 3, 612718, ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY (AGAT DEFICIENCY) |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Renal fanconi syndrome and kidney failure (no MIM number), Cerebral creatine deficiency syndrome 3, 612718 (AR) |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Renal fanconi syndrome and kidney failure |
R-numbers: R257 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Renal fanconi syndrome and kidney failure |