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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) Brain, eye, & endocrine abnormalities Autosomal Recessive 2q21.3 Nonsense RAB3GAP 1339C>T Gln447* Premature Termination Aligianis et al., 2005/2005
Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) Brain, eye, & endocrine abnormalities etc Autosomal Recessive 2q21.3 Deletion RAB3GAP 2801delC Pro934fs*1020 Frame shift mutation & PTC Aligianis et al., 2005/2005
Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) Brain, eye, & endocrine abnormalities etc Autosomal Recessive 2q21.3 Splice site RAB3GAP IVS7?2A>G Frame shift mutation Aligianis et al., 2005/2005
Warburg Micro Syndrome 1 (WARBM1, RAB3GAP) Brain, eye, & endocrine abnormalities etc Autosomal Recessive 2q21.3 Deletion RAB3GAP 1003delT Cys335fs*367 Frame shift mutation & PTC Aligianis et al., 2005/2005