Activity
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19 actions
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| Likely inborn error of metabolism v9.35 | LBR | Ida Ertmanska Tag Q3_26_expert_review was removed from gene: LBR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.35 | LBR | Ida Ertmanska changed review comment from: Comment on mode of inheritance: Pelger-Huet anomaly, seen in numerous carriers of heterozygous LBR variants, does not usually cause any symptoms and thus it is considered a benign condition. There is also one patient reported with a het LBR variant and Reynolds syndrome. However, the variant is present in homozygous state in gnomAD, and its significance is hard to determine. Hence, the mode of inheritance should be changed to 'BIALLELIC, autosomal or pseudoautosomal' on this panel. An expert_review tag has been added to ensure GMS agreement with this demotion.; to: Comment on mode of inheritance: Pelger-Huet anomaly, seen in numerous carriers of heterozygous LBR variants, does not usually cause any symptoms and thus it is considered a benign condition. There is also one patient reported with a het LBR variant and Reynolds syndrome. However, the variant is present in homozygous state in gnomAD, and its significance is hard to determine. Hence, the mode of inheritance should be changed to 'BIALLELIC, autosomal or pseudoautosomal' on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.33 | LBR | Ida Ertmanska Phenotypes for gene: LBR were changed from ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019 to Pelger-Huet anomaly, OMIM:169400; Greenberg skeletal dysplasia, OMIM:215140; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, OMIM:618019; ?Reynolds syndrome, OMIM:613471 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.32 | LBR |
Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: LBR. Tag Q3_26_MOI tag was added to gene: LBR. |
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| Likely inborn error of metabolism v9.32 | LBR | Ida Ertmanska changed review comment from: Comment on mode of inheritance: Pelger-Huet anomaly, seen in carriers of heterozygous LBR variants, does not usually cause any symptoms and thus it is considered a benign condition. Hence, the mode of inheritance should be changed to 'BIALLELIC, autosomal or pseudoautosomal' on this panel. An expert_review tag has been added to ensure GMS agreement with this demotion.; to: Comment on mode of inheritance: Pelger-Huet anomaly, seen in numerous carriers of heterozygous LBR variants, does not usually cause any symptoms and thus it is considered a benign condition. There is also one patient reported with a het LBR variant and Reynolds syndrome. However, the variant is present in homozygous state in gnomAD, and its significance is hard to determine. Hence, the mode of inheritance should be changed to 'BIALLELIC, autosomal or pseudoautosomal' on this panel. An expert_review tag has been added to ensure GMS agreement with this demotion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.32 | LBR | Ida Ertmanska edited their review of gene: LBR: Changed publications to: 12118250, 19468205, 20522425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.32 | LBR |
Ida Ertmanska changed review comment from: MONOALLELIC CASES Reynolds syndrome: PMID: 20522425 Gaudy-Marqueste et al., 2010 76-year-old Caucasian woman with Reynolds syndrome (primary biliary cholangitis and limited cutaneous systemic sclerosis). She was het for LBR c.1114C>T; p.Arg372Cys - AF in gnomAD is 0.0002441, with 2 homozygotes reported. Pelger-Huet anomaly (PHA) is considered to be a benign disorder in most instances, as individuals with PHA are typically healthy. It is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape and structure. See PMID: 12118250 Hoffmann et al., 2002. LBR is associated with AR regressive spondylometaphyseal dysplasia (Moderate, 2023) and AR Greenberg dysplasia (Moderate, 2023) in ClinGen. LBR is linked to AR Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, AR Greenberg skeletal dysplasia, AD Pelger-Huet anomaly, and putatively linked to AD ?Reynolds syndrome in OMIM (accessed 9th Sept 2026).; to: MONOALLELIC CASES Reynolds syndrome: PMID: 20522425 Gaudy-Marqueste et al., 2010 76-year-old Caucasian woman with Reynolds syndrome (primary biliary cholangitis and limited cutaneous systemic sclerosis). She was het for LBR c.1114C>T; p.Arg372Cys - AF in gnomAD is 0.0002441, with 2 homozygotes reported. Pelger-Huet anomaly (PHA) is considered to be a benign disorder in most instances, as individuals with PHA are typically healthy. It is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape and structure. See PMID: 12118250 Hoffmann et al., 2002 and PMID: 19468205 Speeckaert et al., 2009. LBR is associated with AR regressive spondylometaphyseal dysplasia (Moderate, 2023) and AR Greenberg dysplasia (Moderate, 2023) in ClinGen. LBR is linked to AR Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, AR Greenberg skeletal dysplasia, AD Pelger-Huet anomaly, and putatively linked to AD ?Reynolds syndrome in OMIM (accessed 9th Sept 2026). |
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| Likely inborn error of metabolism v9.32 | LBR |
Ida Ertmanska changed review comment from: MONOALLELIC CASES Reynolds syndrome: PMID: 20522425 Gaudy-Marqueste et al., 2010 76-year-old Caucasian woman with Reynolds syndrome (primary biliary cholangitis and limited cutaneous systemic sclerosis). She was het for LBR c.1114C>T; p.Arg372Cys - AF in gnomAD is 0.0002441, with 2 homozygotes reported. Pelger-Huet anomaly (PHA) is considered to be a benign disorder in most instances, as individuals with PHA are typically healthy. It is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape and structure. PMID: 12118250 Hoffmann et al., 2002. LBR is associated with AR regressive spondylometaphyseal dysplasia (Moderate, 2023) and AR Greenberg dysplasia (Moderate, 2023) in ClinGen. LBR is linked to AR Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, AR Greenberg skeletal dysplasia, AD Pelger-Huet anomaly, and putatively linked to AD ?Reynolds syndrome in OMIM (accessed 9th Sept 2026).; to: MONOALLELIC CASES Reynolds syndrome: PMID: 20522425 Gaudy-Marqueste et al., 2010 76-year-old Caucasian woman with Reynolds syndrome (primary biliary cholangitis and limited cutaneous systemic sclerosis). She was het for LBR c.1114C>T; p.Arg372Cys - AF in gnomAD is 0.0002441, with 2 homozygotes reported. Pelger-Huet anomaly (PHA) is considered to be a benign disorder in most instances, as individuals with PHA are typically healthy. It is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape and structure. See PMID: 12118250 Hoffmann et al., 2002. LBR is associated with AR regressive spondylometaphyseal dysplasia (Moderate, 2023) and AR Greenberg dysplasia (Moderate, 2023) in ClinGen. LBR is linked to AR Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, AR Greenberg skeletal dysplasia, AD Pelger-Huet anomaly, and putatively linked to AD ?Reynolds syndrome in OMIM (accessed 9th Sept 2026). |
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| Likely inborn error of metabolism v9.32 | LBR | Ida Ertmanska commented on gene: LBR: Comment on mode of inheritance: Pelger-Huet anomaly, seen in carriers of heterozygous LBR variants, does not usually cause any symptoms and thus it is considered a benign condition. Hence, the mode of inheritance should be changed to 'BIALLELIC, autosomal or pseudoautosomal' on this panel. An expert_review tag has been added to ensure GMS agreement with this demotion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.32 | LBR | Ida Ertmanska edited their review of gene: LBR: Changed publications to: 12118250, 20522425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.32 | LBR | Ida Ertmanska reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522425; Phenotypes: Pelger-Huet anomaly, OMIM:169400, Greenberg skeletal dysplasia, OMIM:215140, Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, OMIM:618019, ?Reynolds syndrome, OMIM:613471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.160 | LBR | Sarah Leigh Classified gene: LBR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.160 | LBR |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. 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. |
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| Likely inborn error of metabolism v1.160 | LBR | Sarah Leigh Gene: lbr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.159 | LBR | Sarah Leigh Publications for gene: LBR were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.158 | LBR | Sarah Leigh Added comment: Comment on phenotypes: Greenberg skeletal dysplasia (Disorders of sterol biosynthesis);Unexplained skeletal dysplasia;Fetal hydrops | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.158 | LBR | Sarah Leigh Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | LBR |
Ivone Leong Source NHS GMS was added to LBR. Source London North GLH was added to LBR. |
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| Likely inborn error of metabolism v0.4 | LBR |
Ellen McDonagh gene: LBR was added gene: LBR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LBR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LBR were set to 27604308 Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops |
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