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  3. ERCC6L2
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IBMDx study

Gene: ERCC6L2

Green List (high evidence)
ERCC6L2 (ERCC excision repair 6 like 2)
EnsemblGeneIds (GRCh38): ENSG00000182150
EnsemblGeneIds (GRCh37): ENSG00000182150
OMIM: 615667, Gene2Phenotype
ERCC6L2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant.
Sources: Expert list
Created: 9 Jan 2020, 12:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 2, MIM# 615715

Publications

Created: 9 Jan 2020, 12:14 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.13

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Bone marrow failure syndrome 2, MIM# 615715
OMIM
615667
Clinvar variants
Variants in ERCC6L2
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERCC6L2 was added gene: ERCC6L2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: ERCC6L2 was set to Unknown Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715