GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Mutation analysis in patients with the typical form of Anderson-Fabry disease. 8395937 1993
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405 1993
dbSNP: rs398123226
rs398123226
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by <i>GLA</i>(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). 28798024 2017
dbSNP: rs104894833
rs104894833
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation. 27160240 2016
dbSNP: rs104894845
rs104894845
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Family 1 (p.A143T) presented with hypertrophic cardiomyopathy (HCM), absent classical FD signs, high residual alpha-galactosidase A activity (AGAL-A) and normal plasma globotriaosylsphingosine. 25040344 2015
dbSNP: rs397515871
rs397515871
Entrez Id: 2717;3188;100529097
Gene Symbol: GLA;HNRNPH2;RPL36A-HNRNPH2
GLA;HNRNPH2;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE We present an illustrative case: a 10-year-old girl with isolated HCM who, on testing with a HCM multi-gene panel, was found to carry a maternally inherited p.W24R variant in GLA. 22336178 2012