Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Intellectual disability v5.480 NHEJ1 Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
Intellectual disability v3.911 NHEJ1 Sarah Leigh Source: Expert Review Amber was removed from gene: NHEJ1
Intellectual disability v3.3 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.468 NHEJ1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NHEJ1.
Intellectual disability NHEJ1 BRIDGE consortium edited their review of NHEJ1
Intellectual disability NHEJ1 BRIDGE consortium edited their review of NHEJ1
Intellectual disability NHEJ1 Louise Daugherty classified NHEJ1 as amber
Intellectual disability NHEJ1 Louise Daugherty commented on NHEJ1
Intellectual disability NHEJ1 BRIDGE consortium reviewed NHEJ1