ROGDI

rogdi atypical leucine zipper
OMIM: 614574, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red ROGDI in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Kohlschutter-Tonz syndrome, MIM#226750

Green ROGDI in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kohlschutter-Tonz syndrome, MIM# 226750

Green ROGDI in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Kohlschutter-Tonz syndrome, MIM# 226750

Green ROGDI in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Kohlschutter-Tonz syndrome, MIM# 226750

Green ROGDI in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kohlschutter-Tonz syndrome, 226750 (3)

Green ROGDI in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 2.1

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Kohlschutter-Tonz syndrome MIM #226750
  • Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)

Green ROGDI in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Kohlschutter-Tonz syndrome, MIM# 226750

Green ROGDI in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kohlschutter-Tonz syndrome MIM#226750