Hypothyroidism, Congenital, Nongoitrous, 5; Chng5
Genes related to Hypothyroidism, Congenital, Nongoitrous, 5; Chng5
- NKX2-5
Clinical Features
Phenotypes and symptoms related to Hypothyroidism, Congenital, Nongoitrous, 5; Chng5
- Growth delay
- Intellectual disability, severe
- Abnormality of metabolism/homeostasis
- Intellectual disability, progressive
- Congenital hypothyroidism
- Thyroid hypoplasia
- Ectopic thyroid
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.Hypothyroidism, Congenital, Nongoitrous, 5; Chng5 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Comprehensive Cardiac Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
Ciliopathies.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
Heterotaxia.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
ZIC3, CRELD1, ACVR2B, CITED2, NKX2-5, DNAH11, DNAH5, DNAI1, SHROOM3, LEFTY2, FOXH1, GATA4, GDF1, SMAD2, NODAL
Specificity
7 %
Genes
100 % |
Atrioventricular Block Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SCN1B, SCN5A, TRPM4, NKX2-5, DES, EMD, LMNA
Specificity
15 %
Genes
100 % |
Congenital Heart Disease Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TBX1, TBX5, NKX2-5
Specificity
34 %
Genes
100 % |
NKX2.5 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
NKX2-5
Specificity
100 %
Genes
100 % |
Heterotaxy V2 Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL
Specificity
6 %
Genes
100 % |
NKX2.5 sequencing.
By Genetic Services Laboratory University of Chicago (United States).
NKX2-5
Specificity
100 %
Genes
100 % |
You can get up to 92 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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