ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit
OMIM: 126340
PanelMode of inheritanceDetails
8 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756, TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2)
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730, Trichothiodystrophy, 601675
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group D, 278730, Trichothiodystrophy, 601675