CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
|
19118816 |
2009 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations of the FIG4 gene encoding a PI(3,5)P(2) 5-phosphatase.
|
18556664 |
2008 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
|
18556664 |
2008 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
MGD |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
The lipid phosphatase gene FIG4 is responsible for Yunis-Varón syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy.
|
30740813 |
2019 |
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in FIG4 have been previously reported to cause Yunis-Varon syndrome.
|
31591492 |
2019 |
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome.
|
29688489 |
2018 |
Yunis Varon syndrome
|
0.980 |
Biomarker
|
disease |
BEFREE |
Here, we present the case of a female neonate with clinical features of YVS and normal FIG4 sequencing; exome sequencing identified biallelic rare coding variants in VAC14.
|
28635952 |
2017 |
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Factor-Induced-Gene 4 (FIG4) gene have been identified in Charcot-Marie-Tooth disease type 4J (CMT4J), Yunis-Varon syndrome and epilepsy with polymicrogyria.
|
26708557 |
2016 |
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J).
|
25187576 |
2015 |
Yunis Varon syndrome
|
0.980 |
GermlineCausalMutation
|
disease |
ORPHANET |
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
|
23623387 |
2013 |
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Novel FIG4 mutations in Yunis-Varon syndrome.
|
24088667 |
2013 |
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
|
23623387 |
2013 |
Yunis Varon syndrome
|
0.980 |
Biomarker
|
disease |
MGD |
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
|
23623387 |
2013 |
Yunis Varon syndrome
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Our findings demonstrate that homozygosity or compound heterozygosity for null mutations of FIG4 is responsible for YVS, the most severe known human phenotype caused by defective phosphoinositide metabolism.
|
23623387 |
2013 |
Yunis Varon syndrome
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
|
23623387 |
2013 |
Yunis Varon syndrome
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
|
23623387 |
2013 |
Yunis Varon syndrome
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
|
17572665 |
2007 |
Yunis Varon syndrome
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Yunis Varon syndrome
|
0.980 |
Biomarker
|
disease |
CTD_human |
|
|
|
AMYOTROPHIC LATERAL SCLEROSIS 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.
|
28051077 |
2017 |