This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: ERCC6L2
ERCC6L2 (ERCC excision repair 6 like 2)
EnsemblGeneIds (GRCh38): ENSG00000182150
EnsemblGeneIds (GRCh37): ENSG00000182150
OMIM: 615667, Gene2Phenotype
ERCC6L2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000182150
EnsemblGeneIds (GRCh37): ENSG00000182150
OMIM: 615667, Gene2Phenotype
ERCC6L2 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Bone marrow failure syndrome 2, MIM#615715
- OMIM
- 615667
- Clinvar variants
- Variants in ERCC6L2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Mitochondrial disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Fetal anomalies
- DDG2P
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ERCC6L2 was added gene: ERCC6L2 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 27185855; 24507776 Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM#615715