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| Likely inborn error of metabolism v9.38 | ANGPTL3 |
Nicole Gossan gene: ANGPTL3 was added gene: ANGPTL3 was added to Likely inborn error of metabolism. Sources: NHS GMS Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANGPTL3 were set to Familial Hypobetalipoproteinemia 2 (OMIM#605019) Review for gene: ANGPTL3 was set to GREEN Added comment: ANGPTL3 is associated with autosomal recessive familial hypobetalipoproteinemia 2 (OMIM#605019). Clingen gene-disease validity is Definitive (reviewed 21/11/2022) and this gene is included on another GMS panel (R331). Other genetic causes of hypobetalipoproteinemia are included on R98 - suggest adding ANGPTL3 to the panel. Sources: NHS GMS |
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