Genomics England
GMS Panels
Panels
Genes and Entities

ERCC6L2

ERCC excision repair 6 like 2
OMIM: 615667
PanelMode of inheritanceDetails
5 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615715 Bone marrow failure syndrome 2, Bone marrow failure syndrome 2, 615715
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BONE MARROW FAILURE SYNDROME 2 615715
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure syndrome 2, OMIM:615715
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
Bone marrow failure syndrome 2, 615715
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure syndrome 2, 615715, Facial dysmorphism, microcephaly, bone marrow failure, Combined immunodeficiencies with associated or syndromic features