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Polymicrogyria and Schizencephaly v0.66 | NHEJ1 | Zornitza Stark Marked gene: NHEJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.66 | NHEJ1 | Zornitza Stark Gene: nhej1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.66 | NHEJ1 | Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.65 | NHEJ1 | Zornitza Stark Publications for gene: NHEJ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.64 | NHEJ1 | Zornitza Stark Classified gene: NHEJ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.64 | NHEJ1 | Zornitza Stark Gene: nhej1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.63 | NHEJ1 | Lauren Akesson reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17191205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291); Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.0 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: NHEJ1 was set to Unknown |