Genomics England
GMS Panels
Panels
Genes and Entities

ROGDI

rogdi homolog
OMIM: 614574
PanelMode of inheritanceDetails
5 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome, 226750, Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KOHLSCHŸTTER-TšNZ SYNDROME 226750
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome 226750
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KOHLSCHAYTTER-TANZ SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome, 226750, KOHLSCH TTER-T _NZ SYNDROME