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A whole exome sequencing in the proband revealed a heterozygous variant in PNPLA6 (HGNC: 16268, NM_006702; a c.C1742G leading to p.T581R) in both siblings (Figure 2) in addition to confirming the SRA1 variant described above.
Fortunately, there are existing nomenclature standards for human genes, which are actively administered by the HUGO Gene Nomenclature Committee (HGNC) (38).
However one, SLC4A7 (solute carrier family 4, sodium bicarbonate cotransporter, member 7; HGNC ID 11033), codes for a bicarbonate transporter (Pushkin et al.
As in the case of genes and their naming (see HGNC above), EBI is engaged in maintaining a portal that provides information on the standardisation of the naming of proteins, which is known as the IntEnz  data resource.
According to the gene-naming principles established by the Gene Nomenclature Committee of the Human Genome Organization (HGNC), "BTB" plus the initial word in the descriptions of other domains was used for the abbreviated names of the BTB protein genes identified in this study.
The HGNC approved names of genes encoding for MRP8 and MRP14 are S100A8 and S100A9, respectively.
Bruford, "Genenames.org: The HGNC resources in 2011," Nucleic Acids Research, vol.
In columns from left, "regulation name," assigned name of correlation; "correlation r," correlation coefficient value (Spearman); "Correlation FDR," DR corrected p value of correlation; "mature miRNA," mature miRNA name; "confirmed by TargetRank," stating that if regulation is confirmed by TargetRank (rank and score in the parenthesis); "gene symbol," HGNC symbol of gene in correlation; and "gene name," HGNC official full name.
Variant calls should use standard nomenclature, including the official Hugo Gene Nomenclature Committee (HGNC, European Bioinformatics Institute, Hinxton, Cambridge, England) gene names, standardized variant nomenclature (eg, http://www.hgvs.org/mutnomen/), (35) and unambiguous location coordinates (either chromosomal coordinates and/or complementary DNA [cDNA] coordinates with a reference transcript).
In this study used HGNC gene symbols referenced from the HUGO Gene Nomenclature Committee.
Se utilizo la base de datos perteneciente a la HUGO Human Genome Organisation (HUGO) y el Gene Nomenclature Committee (HGNC) de la misma organizacion para ahondar sobre las directrices que guian la nomenclatura de genes y proteinas en la especie humana (HUGO Gene Nomenclature Committee, 2017).
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- HGNC Comparison of Orthology Predictions