Genomics England
GMS Panels
Panels
Genes and Entities

GTF2E2

general transcription factor IIE subunit 2
OMIM: 189964
PanelMode of inheritanceDetails
4 panels
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 - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
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