| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebral creatine deficiency syndrome 3, OMIM:612718 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | 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 tubulopathiesR-numbers: R198 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Fanconi renotubular syndrome 1, OMIM:134600 |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Fanconi renotubular syndrome 1, OMIM:134600 |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Fanconi renotubular syndrome 1, OMIM:134600 |