P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

Bibliographic Details
Main Authors:	Shruthi Mohan, Irene De Biase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Meredith Weaver, Raquel Fernandez, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774424000438

Similar Items

P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI)
by: Matthew Wright, et al.
Published: (2023-01-01)

O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience
by: Emily Groopman, et al.
Published: (2023-01-01)

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
by: Dona M. Kanavy, et al.
Published: (2019-11-01)

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
by: Christine G. Preston, et al.
Published: (2022-01-01)

O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
by: Jenny Goldstein, et al.
Published: (2024-01-01)

P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel
by: Megan Holdren, et al.
Published: (2023-01-01)

P595: The ClinGen Syndromic Disorders Gene Curation Expert Panel
by: Anne O'Donnell-Luria, et al.
Published: (2024-01-01)

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL
by: C Coralea Stephanou, et al.
Published: (2022-01-01)

P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
by: Shruthi Mohan, et al.
Published: (2024-01-01)

P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel
by: Deborah Ritter, et al.
Published: (2024-01-01)

P079: ClinGen Somatic and CIViC collaborate to comprehensively evaluate somatic variants in cancer*
by: Jason Saliba, et al.
Published: (2023-01-01)

O56: The Clinical Genome Resource (ClinGen): Engaging the patient community in ClinGen’s work through Facebook Hereditary Cancer Groups
by: Deborah Ritter, et al.
Published: (2023-01-01)

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows
by: Wesley Goar, et al.
Published: (2023-01-01)

P826: Evaluating HLA allele-disease associations in ClinGen: Development of a new curation tool
by: Ingrid Keseler, et al.
Published: (2024-01-01)

P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel
by: Melissa Kelly, et al.
Published: (2024-01-01)

P155: The ClinGen framework for naming monogenic diseases*
by: Courtney Thaxton, et al.
Published: (2024-01-01)

P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
by: Emily Groopman, et al.
Published: (2024-01-01)

P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*
by: Amber Waddell, et al.
Published: (2024-01-01)

P460: Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs
by: Shawn Fayer, et al.
Published: (2023-01-01)

O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group*
by: Matthew Lebo, et al.
Published: (2023-01-01)

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
by: Kelly, M, et al.
Published: (2018)

O10: Implications of two population-based genetic studies of breast cancer on hereditary cancer gene curation using the ClinGen gene-disease validity framework*
by: Julius Militante, et al.
Published: (2023-01-01)

P179: The ClinGen Pharmacogenomics Working Group: Developing frameworks for evaluating pharmacogenomic gene validity and actionability
by: Li Gong, et al.
Published: (2024-01-01)

P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*
by: Michael Parsons, et al.
Published: (2023-01-01)

P178: The ClinGen Pharmacogenomics Working Group: Developing a framework for gene-drug response clinical validity
by: Li Gong, et al.
Published: (2023-01-01)

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs
by: Chunna Fan, et al.
Published: (2021-10-01)

P645: Creation of a ClinGen standard operating procedure to guide gene- and disease-specific refinements of the ACMG/AMP criteria
by: Alicia Byrne, et al.
Published: (2023-01-01)

Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters
by: Carlo W. T. van Roermund, et al.
Published: (2022-01-01)

Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment
by: Le Thi My Le, et al.
Published: (2022-01-01)

Somatic cancer variant curation and harmonization through consensus minimum variant level data
by: Deborah I. Ritter, et al.
Published: (2016-11-01)

CLIN_SKAT: an R package to conduct association analysis using functionally relevant variants
by: Amrita Chattopadhyay, et al.
Published: (2022-10-01)

Structure and Function of the <i>ABCD1</i> Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy
by: Eric J. Mallack, et al.
Published: (2022-01-01)

Splicing Analysis of 16 <i>PALB2</i> ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
by: Alberto Valenzuela-Palomo, et al.
Published: (2022-09-01)

P002: Increased identification of symptom-free males with pathogenic variants in the ABCD1 gene
by: Adelyn Beil, et al.
Published: (2023-01-01)

Identification of a Novel Non-Canonical Splice-Site Variant in <i>ABCD1</i>
by: Feixia Zheng, et al.
Published: (2023-01-01)

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the <i>ABCD1</i> Gene
by: Stephanie I. W. van de Stadt, et al.
Published: (2021-11-01)

O30: Graphics and filters make it easier to evaluate many variants in ClinVar search results*
by: Melissa Landrum, et al.
Published: (2023-01-01)

Author Correction: Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades
by: Jiale Xiang, et al.
Published: (2020-07-01)

A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia
by: Yanxing Chen, et al.
Published: (2018-04-01)

P733: Comparative analysis of DNA variant classifications between the GENCOV COVID-19 genome study and the ClinVar database
by: Radhika Mahajan, et al.
Published: (2024-01-01)