ERCC6L2

ERCC excision repair 6 like 2
OMIM: 615667, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ERCC6L2 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS North West GLH Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Bone marrow failure syndrome 2, 615715 Combined immunodeficiencies with associated or syndromic features Facial dysmorphism, microcephaly, bone marrow failure
Green ERCC6L2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Bone marrow failure syndrome 2, 615715 Facial dysmorphism, microcephaly, bone marrow failure Combined immunodeficiencies with associated or syndromic features
Green ERCC6L2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bone marrow failure syndrome 2, 615715
Green ERCC6L2 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.40 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Bone marrow failure syndrome 2, OMIM:615715
Green ERCC6L2 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 615715 Bone marrow failure syndrome 2 Bone marrow failure syndrome 2, 615715
Red ERCC6L2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	Unknown	Sources Expert Review Red
Red ERCC6L2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes BONE MARROW FAILURE SYNDROME 2
Green ERCC6L2 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BONE MARROW FAILURE SYNDROME 2 615715
Green ERCC6L2 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bone marrow failure syndrome 2, 615715
Red ERCC6L2 in Mitochondrial disorders Level 2: Mitochondrial Version 9.46 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	Not set	Sources Victorian Clinical Genetics Services