ERCC6L2

ERCC excision repair 6 like 2
OMIM: 615667, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ERCC6L2 in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 2, MIM# 615715
Green ERCC6L2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure syndrome 2, MIM# 615715
Red ERCC6L2 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Bone marrow failure syndrome 2, MIM#615715
Green ERCC6L2 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 2, MIM# 615715
Green ERCC6L2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes pancytopenia-developmental delay syndrome MONDO:0014317
Green ERCC6L2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bone marrow failure syndrome 2, 615715 (3)
Amber ERCC6L2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Bone marrow failure syndrome 2, MIM# 615715
Green ERCC6L2 in IBMDx study Version 1.0	1 review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 2, MIM# 615715
Green ERCC6L2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bone marrow failure syndrome 2, 615715 (3)
Amber ERCC6L2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Bone marrow failure syndrome 2, MIM# 615715 Tags treatable haematological