Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation
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DOI: 10.1038/ejhg.2016.151
Abstract: 1. Name of the disease (synonyms) Deficiency of UDP-galactose:O-beta-d-xylosylprotein 4-d-galactosyltransferase, deficiency of xylosylprotein 4-beta-galactosyltransferase, polypeptide 7, deficiency of galactosyltransferase I, B4GALT7 deficiency, B4GALT7-CDG, progeroid form of Ehlers–Danlos syndrome, type 1, Ehlers–Danlos syndrome with short stature… read more here.
Keywords: clinical utility; utility gene; deficiency; gene card ... See more keywords
Clinical utility gene card for: Fabry disease – update 2016
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DOI: 10.1038/ejhg.2017.17
Abstract: Name of the disease (synonyms) Fabry disease, Anderson-Fabry disease. OMIM# of the disease 301500. Name of the analysed gene(s) or DNA/chromosome segments Alpha-galactosidase A, GLA. OMIM# of the gene(s) 300644. Review of the analytical and… read more here.
Keywords: clinical utility; utility gene; fabry disease; disease ... See more keywords
Clinical utility gene card: for pseudoxanthoma elasticum
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DOI: 10.1038/s41431-017-0090-2
Abstract: More than 300 distinct pathogenic variants have been reported in the ABCC6 gene [1]. Most of these variants are gathered in the public ABCC6 variants database (https://data bases.lovd.nl/shared/genes/ABCC6). These include missense, nonsense, frameshift, splice-site single-nucleotide… read more here.
Keywords: utility gene; card pseudoxanthoma; pathogenic variants; clinical utility ... See more keywords
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
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DOI: 10.1038/s41431-018-0235-y
Abstract: Inherited optic neuropathies are a clinically heterogeneous group of disorders that can be caused by variants in both the nuclear and mitochondrial genomes. MtDNA variants (Table 1) show strict maternal inheritance whereas nuclear variants can… read more here.
Keywords: utility gene; clinical utility; gene card; inherited optic ... See more keywords