INTS1

integrator complex subunit 1
OMIM: 611345
PanelMode of inheritanceDetails
3 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817
R-numbers: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571, Hypotonia, Global developmental delay, Cataract, Abnormality of the skeletal system