Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes hearing loss, Distal Renal Tubular Acidosis with Progressive Nerve Deafness, Renal tubular acidosis with deafness, 267300 |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes distal renal tubular acidosis, Renal tubular acidosis with deafness 267300 |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Renal tubular acidosis with deafness, 267300, Distal Renal Tubular Acidosis with Progressive Nerve Deafness, Distal renal tubular acidosis |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Renal tubular acidosis with deafness 267300, distal renal tubular acidosis |