15 Aug 2019
Undiagnosed metabolic disorders v1.170
LBR
Sarah Leigh Publications for gene: LBR were set to 27604308
15 Aug 2019
Undiagnosed metabolic disorders v1.169
LBR
Sarah Leigh Classified gene: LBR as Green List (high evidence)
15 Aug 2019
Undiagnosed metabolic disorders v1.169
LBR
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Greenberg skeletal dysplasia 215140. At least 15 variants have been reported, in 5 unrelated cases of Pelger-Huet anomaly 169400, 3 unrelated cases of Pelger-Huet anomaly with mild skeletal anomalies 618019, 5 unrelated cases of Greenberg skeletal dysplasia 215140 and in a single case of ?Reynolds syndrome 613471.
15 Aug 2019
Undiagnosed metabolic disorders v1.169
LBR
Sarah Leigh Gene: lbr has been classified as Green List (High Evidence).
15 Aug 2019
Undiagnosed metabolic disorders v1.168
LBR
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.168
LBR
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.168
LBR
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.168
LBR
Sarah Leigh Added comment: Comment on phenotypes: Greenberg skeletal dysplasia (Disorders of sterol biosynthesis);Fetal hydrops;Unexplained skeletal dysplasia
15 Aug 2019
Undiagnosed metabolic disorders v1.168
LBR
Sarah Leigh Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Fetal hydrops; Unexplained skeletal dysplasia to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019
06 Jan 2017
Undiagnosed metabolic disorders
LBR
Sarah Leigh edited their review of LBR
06 Jan 2017
Undiagnosed metabolic disorders
LBR
Sarah Leigh edited their review of LBR
06 Jan 2017
Undiagnosed metabolic disorders
LBR
Sarah Leigh edited their review of LBR
06 Jan 2017
Undiagnosed metabolic disorders
LBR
Sarah Leigh reviewed LBR