Genomics England
GMS Panels
Panels
Genes and Entities

ERCC5

ERCC excision repair 5, endonuclease
OMIM: 133530
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 G, 278780
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3, OMIM:616570, Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group G, 278780
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 G 278780
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3, OMIM:616570, Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
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 G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780, XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G)
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group G, 278780, Xeroderma pigmentosum, group G/Cockayne syndrome, 278780