Genomics England
GMS Panels
Panels
Genes and Entities

GTF3C3

general transcription factor IIIC subunit 3
OMIM: 604888
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy, MONDO:0100038
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 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201, neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201, neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201, neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201, neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301