ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit
OMIM: 133510
PanelMode of inheritanceDetails
8 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group B, 610651
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy
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 B 610651, TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B, 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 B, 610651Trichothiodystrophy, 601675, XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B)
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group B, 610651
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group B, 610651, Trichothiodystrophy, 601675
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group B, 610651, Trichothiodystrophy, 601675