Genomics England
GMS Panels
Panels
Genes and Entities

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit
OMIM: 126380
PanelMode of inheritanceDetails
6 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA 229154, CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4, OMIM:610758, hepatorenal syndrome, MONDO:0001382
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma Pigmentosum