Genomics England
GMS Panels
Panels
Genes and Entities

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit
OMIM: 126340
PanelMode of inheritanceDetails
7 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756, TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, TRICHOTHIODYSTROPHY PHOTOSENSITIVE
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
Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2)
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730, Trichothiodystrophy, 601675