Tremor, Hereditary Essential, 5; Etm5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hereditary essential tremor-5 is an autosomal dominant neurologic disorder characterized by kinetic, intention, and/or postural tremor mainly affecting the upper limbs. The age at onset and severity are highly variable, even within families (summary by Hor et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (OMIM ).

Genes related to Tremor, Hereditary Essential, 5; Etm5

TENM4

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Clinical Features

Phenotypes and symptoms related to Tremor, Hereditary Essential, 5; Etm5

Tremor
Intention tremor
Postural tremor
Kinetic tremor

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Tremor, Hereditary Essential, 5; Etm5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...) View the complete list with 48 more genes Panel complete gene list SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10, PARK7, RAB39B, ATP6AP2, LRRK2, LYST, CLN3, SLC39A14, CHCHD2, CP, VPS13C, CSF1R, SLC30A10, C19orf12, DCAF17, ADORA1, DCTN1, DNAJC12, WDR45, DNM1L, TENM4, ATP13A2, DNAJC13, EIF4G1, PTRHD1, FTL, GBA, GCH1, GRN, DNAJB2, APP, KIF5A, MAPT, ATP1A3, PRKN, PDE10A, PDE8B, PDGFB, PDGFRB, PLA2G6, PODXL, POLG, POLG2, PRKAR1B, PRKRA, PRNP, PSEN1, PSEN2, RAB29 Specificity 2 % Genes 100 %
Parkinson all Panel. By CeGaT GmbH (Germany). ATXN2, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PANK2, PARK7, RAB39B, ATP6AP2, LRRK2, ZFYVE26, CHCHD2 , (...) View the complete list with 27 more genes Panel complete gene list ATXN2, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PANK2, PARK7, RAB39B, ATP6AP2, LRRK2, ZFYVE26, CHCHD2, VPS13C, SLC30A10, C19orf12, DCTN1, TENM4, ATP13A2, DNAJC13, EIF4G1, FMR1, FTL, GBA, GCH1, GRN, MAPT, ATXN3, ASNA1, ATP1A3, PRKN, PDE10A, PDE8B, PLA2G6, PODXL, POLG, PRKAR1B, PRKRA, PTEN, RAB29 Specificity 3 % Genes 100 %
TENM4. By Fulgent Genetics Fulgent Genetics (United States). TENM4 Specificity 100 % Genes 100 %
Hereditary Essential Tremor, Panel Massive Sequencing (NGS) DRD3, TENM4, FUS Genes. By Reference Laboratory Genetics (Spain). TENM4, DRD3, FUS Specificity 34 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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