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| Skeletal ciliopathies v0.13 | LBR | Eleanor Williams Added comment: Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.13 | LBR | Eleanor Williams Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.10 | LBR | Eleanor Williams Phenotypes for gene: LBR were changed from Skeletal Ciliopathies to Skeletal Ciliopathies; Greenberg skeletal dysplasia, 215140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.9 | LBR | Eleanor Williams Publications for gene: LBR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.8 | LBR |
Eleanor Williams changed review comment from: Associated with Greenberg skeletal dysplasia 215140 as well as several other phenotypes in OMIM. Also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia. Associated with HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA in Gene2Phenotype (confirmed). From OMIM - 3 unrelated fetuses with Greenberg dysplasia, Clayton et al. (2010) identified homozygous or compound heterozygous mutations in the LBR gene. Functional assays suggests Greenberg dysplasia results from defects in the sterol reductase activity of LBR, not from the structural function of LBR as part of the nuclear membrane. Waterham et al. (2003) found elevated levels of cholesta-8,14-dien-3-beta-ol in cultured skin fibroblasts of an 18-week-old fetus with HEM skeletal dysplasia, compatible with a deficiency of the cholesterol biosynthetic enzyme 3-beta-hydroxysterol delta(14)-reductase and identified a mutation in the LBR gene that resulted in a truncated protein. PMID: 29068549 - Zhang et al 2018 - report a case of a neonate with a non-lethal form of asphyxiating thoracic dystrophy (ATD) and compound heterozygosity for missense mutations LBR . ; to: Associated with Greenberg skeletal dysplasia 215140 as well as several other phenotypes in OMIM. Also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia. Associated with HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA in Gene2Phenotype (confirmed). From OMIM - PMID: 21327084 - Clayton et al. (2010) - 3 unrelated fetuses with Greenberg dysplasia. They identified homozygous or compound heterozygous mutations in the LBR gene. Functional assays suggests Greenberg dysplasia results from defects in the sterol reductase activity of LBR, not from the structural function of LBR as part of the nuclear membrane. PMID: 12618959 Waterham et al. (2003) - found elevated levels of cholesta-8,14-dien-3-beta-ol in cultured skin fibroblasts of an 18-week-old fetus with HEM skeletal dysplasia, compatible with a deficiency of the cholesterol biosynthetic enzyme 3-beta-hydroxysterol delta(14)-reductase and identified a mutation in the LBR gene that resulted in a truncated protein. PMID: 29068549 - Zhang et al 2018 - report a case of a neonate with a non-lethal form of asphyxiating thoracic dystrophy (ATD) and compound heterozygosity for missense mutations LBR . |
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| Skeletal ciliopathies v0.7 | LBR | Eleanor Williams Classified gene: LBR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.7 | LBR | Eleanor Williams Added comment: Comment on list classification: Updating from red to green. On the Skeletal ciliopathies panel (rather than the Multisystem ciliopathies panel), it was felt that it could be promoted to green even though the phenotype is not multisystem. It is highly likely to be relevant in childhood. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.7 | LBR | Eleanor Williams Gene: lbr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.1 | LBR |
Eleanor Williams gene: LBR was added gene: LBR was added to Skeletal ciliopathies. Sources: UKGTN,Expert list,Expert Review Red Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LBR were set to Skeletal Ciliopathies |
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