ERCC6L2, ERCC excision repair 6 like 2, 375748

N. diseases: 23; N. variants: 8
Disease: Pancytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.030 GeneticVariation disease BEFREE Biallelic variants in the ERCC excision repair 6 like 2 gene (<i>ERCC6L2</i>) are known to cause bone marrow failure (BMF) due to defects in DNA repair and mitochondrial function. 29987015 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.030 GeneticVariation disease BEFREE Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. 28815563 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.030 GeneticVariation disease BEFREE Collectively, these observations identify a distinct bone-marrow-failure syndrome due to mutations in ERCC6L2, a gene implicated in DNA repair and mitochondrial function. 24507776 2014