ERCC6L2

ERCC excision repair 6 like 2
OMIM: 615667
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 1.29
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BONE MARROW FAILURE SYNDROME 2 615715
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
Bone marrow failure syndrome 2, 615715
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure syndrome 2, 615715, Facial dysmorphism, microcephaly, bone marrow failure, Combined immunodeficiencies with associated or syndromic features