ISCA-37432-Loss

17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RCAD syndrome, utero-vaginal atresia, Schizophrenia, 614527, delayed development, intellectual disability, Renal cysts and diabetes syndrome, Autism Spectrum Disorder, Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females, Chromosome 17q12 deletion syndrome, global developmental delay
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RCAD syndrome, utero-vaginal atresia, Schizophrenia, 614527, delayed development, intellectual disability, Renal cysts and diabetes syndrome, Autism Spectrum Disorder, Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females, Chromosome 17q12 deletion syndrome, global developmental delay
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Schizophrenia, Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females, delayed development, intellectual disability, 614527, RCAD syndrome, utero-vaginal atresia, Chromosome 17q12 deletion syndrome, Autism Spectrum Disorder, global developmental delay, Renal cysts and diabetes syndrome
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Schizophrenia, Renal cysts and diabetes syndrome, delayed development, intellectual disability, Autism Spectrum Disorder, Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females, global developmental delay, 614527, RCAD syndrome, Chromosome 17q12 deletion syndrome, utero-vaginal atresia