Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730, OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 (OPTB3), carbonic anhydrase II deficiency, intellectual disability |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730, Osteopetrosis with Renal Tubular Acidosis |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 |