Annotation Detail
Information
- Associated Genes
- SOS1
- Associated Variants
-
PTPN11 p.Thr472Met (p.T472M)
(
ENST00000351677.7,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
SOS1 p.Pro340Ser (p.P340S) ( ENST00000395038.6, ENST00000402219.8, ENST00000691229.1, ENST00000692089.1 )
PTPN11 p.Thr472Met (p.T472M) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
SOS1 p.Pro340Ser (p.P340S) ( ENST00000395038.6, ENST00000402219.8, ENST00000691229.1, ENST00000692089.1 ) - Associated Disease
- LEOPARD Syndrome
- Source Database
- DisGeNET
- Description
- Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
- Pubmed
- 22585553
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00318135759484294
- Year of publication
- 2012
Drugs