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Table S2: Comprehensive and Restrictive Gene List
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ColumnColumn NameDescriptionReference
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AEntrez GeneIDEntrez ID for each gene-
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BHGNC IDHGNC ID for each gene-
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CSymbolHGNC approved gene name-
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DComprehensive Gene ListIncluded in the comprehensive gene list (Yes/No)-
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ERestrictive Gene ListIncluded in the restrictive gene list (Yes/No)-
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FGenome Reference
Genomic region only: General genomic region for gene is only available
-
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GRCh37/38: Gene mapped to GRCh37 and GRCh38-
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GRCh38/Only patches in GRCh37: Gene mapped to one location in GRCh38 but only mapped to patches in GRCh37
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GRCh38/Two locations in GRCh37: Gene mapped to one location in GRCh38 but mapped to two locations in GRCh37
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GRCh38 Only: Gene only mapped to GRCh38-
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GMax GDA Score Range in DisGeNETMaximum GDA score associated to each gene in DisGeNETDisGeNET v7.0: https://www.disgenet.org/home/
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HBabySeq Evidence for Gene-Disease Association
Strongest GDA classification assigned to each gene in the BabySeq Study
Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, et al. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017;19(7):809-18.
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IMedSeq Clinical Validity
Strongest clinical validity assigned to each gene in the MedSeq Project
Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, et al. Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. Am J Hum Genet. 2019;105(1):177-882
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JClinGen Gene-Disease Classification
Strongest GDA classification assigned to each gene by the Clinical Genome Resource
Downloaded March 14, 2021: https://search.clinicalgenome.org/kb/gene-validity/
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KIntersection of GenCC
Maximum strength associated to each gene reported if concordant between any two submitters (TGMI/G2P, Invitae, Illumina, Ambry Genetics, or Myriad Women's Health); Definitive and Strong as well as Moderate and Limited classifications were grouped
Downloaded March 13, 2021: https://search.thegencc.org/
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LIntersection of PanelApp
Maximum strength associated to each gene reported if concordant between selected PanelApp Australia and England panels; Strength of evidence represented by three different colors (Red/Not Enough, Amber/Moderate, Green/High)
Downloaded February 26, 2021:https://panelapp.agha.umccr.org/; https://panelapp.genomicsengland.co.uk/
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Genome England PanelApp Max Strength (Paediatric Disorders Panel)
Maximum strength associated to each gene reported in Paediatric Disorders panel; Strength of evidence represented by three different colors (Red/Not Enough, Amber/Moderate, Green/High)
Downloaded February 26, 2021: https://panelapp.genomicsengland.co.uk/
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N
PanelApp Australia Max Strength (Incidentalome and Mendeliome)
Maximum strength associated to each gene reported in Incidentalome or Mendeliome; Strength of evidence represented by three different colors (Red/Not Enough, Amber/Moderate, Green/High)
Downloaded February 26, 2021: https://panelapp.agha.umccr.org/
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OOMIMGenes with entry in OMIM MorbidMap (Yes/No)Downloaded March 9, 2021: https://www.omim.org/
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PClinVar
Genes with ≥1 P/LP variant entries by any submitter in ClinVar (Yes/No)
Downloaded February 26, 2021: https://www.ncbi.nlm.nih.gov/clinvar/
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QClinVar: Earliest Last Eval Year for P/LP
Earliest last evaluation year for any P/LP variant in ClinVar (per gene)
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RClinVar: Latest Eval Year for P/LP
Latest evaluation year for any P/LP variant in ClinVar (per gene)
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SClinVar: Total P/LP CountTotal number of P/LP variants by any submitter in ClinVar-
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TClinVar: Total P/LP Count Over 2-star
Total number of P/LP variants with review status ≥2-star in ClinVar
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UHGMDGenes with ≥1 DM variant in HGMD (Yes/No)HGMD v2020.4: https://portal.biobase-international.com/hgmd/pro/search_gene.php
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VHGMD: Latest Pub Year for DM
Range for latest publication year for any DM variant in HGMD (per gene)
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WHGMD: Total DM CountTotal number of DM variants ≥4 in HGMD (per gene) (Yes/No)-
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