Genomics England
GMS Panels
Panels
Genes and Entities

GTF2E2

general transcription factor IIE subunit 2
OMIM: 189964
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DNA Repair-Proficient Trichothiodystrophy
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
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
Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 6, nonphotosensitive, OMIM:616943