Monogenic diabetesRegion: ISCA-37432-Loss
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:57 a.m.
Ivone Leong: Gene changed to grey status af
Region: isca-37432-loss has been removed from the panel.
Region: ISCA-37432-Loss was added Region: ISCA-37432-Loss was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37432-Loss were set to 614527; utero-vaginal atresia; RCAD syndrome; Schizophrenia; Chromosome 17q12 deletion syndrome; delayed development, intellectual disability; global developmental delay; Autism Spectrum Disorder; Renal cysts and diabetes syndrome; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females