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Intellectual disability syndromic and non-syndromic

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

ID is not always is not always present. Developmental delay and/or learning difficulties have been described in 6/31 (19%) cases with biallelic variants.
Created: 24 Sep 2024, 11:44 a.m. | Last Modified: 24 Sep 2024, 11:44 a.m.
Panel Version: 0.6242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pancytopenia-developmental delay syndrome MONDO:0014317

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ken Lee Wan (Monash Health)

I don't know

Homozygous loss-of-function variants in ERCC6L2 have been associated with bone marrow failure that includes developmental delay and microcephaly in 4 patients with consanguineous parents (PMIDs: 24507776; 27185855; 29633571). However, 2 patients from non-consanguineous parents have been reported with neither developmental delay nor microcephaly (PMID: 28815563).
Created: 20 Sep 2024, 5:52 a.m. | Last Modified: 20 Sep 2024, 5:52 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pancytopenia-developmental delay syndrome MONDO:0014317

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • pancytopenia-developmental delay syndrome MONDO:0014317
OMIM
615667
Clinvar variants
Variants in ERCC6L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ercc6l2 has been classified as Green List (High Evidence).

24 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ERCC6L2 were changed from to pancytopenia-developmental delay syndrome MONDO:0014317

24 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ERCC6L2 were set to

24 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERCC6L2 was added gene: ERCC6L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC6L2 was set to Unknown