Genomics England
GMS Panels
Panels
Genes and Entities

RTTN

rotatin
OMIM: 610436
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BILATERAL DIFFUSE POLYMICROGYRIA 614833
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 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures 614833
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BILATERAL DIFFUSE POLYMICROGYRIA
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures, 614833, Intellectual disability
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures 614833
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Microcephaly, short stature, and polymicrogyria with seizures, Microcephaly,short stature,and polymicrogyria with seizures,614833, Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures, 614833