Lethal Congenital Contracture Syndrome 6; Lccs6
Genes related to Lethal Congenital Contracture Syndrome 6; Lccs6
- ZBTB42
Clinical Features
Phenotypes and symptoms related to Lethal Congenital Contracture Syndrome 6; Lccs6
- Flexion contracture
- Macrocephaly
- Polyhydramnios
- Arthrogryposis multiplex congenita
- Decreased fetal movement
- Congenital contracture
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.Lethal Congenital Contracture Syndrome 6; Lccs6 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Congenital Contractures Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)
View the complete list with 37 more genes
Specificity
2 %
Genes
100 % |
Congenital contracture syndrome extended NGS panel.
By Connective Tissue Gene Tests (United States).
TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Congenital contracture syndrome extended Comprehensive panel.
By Connective Tissue Gene Tests (United States).
TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Congenital contracture syndrome extended Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Lethal congenital contracture syndrome and related disorders Comprehensive Panel.
By Connective Tissue Gene Tests (United States).
VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
Lethal congenital contracture syndrome and related disorders NGS Panel.
By Connective Tissue Gene Tests (United States).
VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel.
By Connective Tissue Gene Tests (United States).
VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
ZBTB42.
By Fulgent Genetics Fulgent Genetics (United States).
ZBTB42
Specificity
100 %
Genes
100 % |
You can get up to 1 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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