TMCO1 gene related symptoms and diseases
All the information presented here about the TMCO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TMCO1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Growth hormone deficiency | Very Common - Between 80% and 100% cases |
| Long eyelashes | Very Common - Between 80% and 100% cases |
| Intention tremor | Very Common - Between 80% and 100% cases |
| Low posterior hairline | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TMCO1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cerebellar vermis hypoplasia
- Abnormality of the ribs
- Decreased fetal movement
- Narrow forehead
- Postaxial hand polydactyly
- Renal agenesis
- Wide intermamillary distance
- Vesicoureteral reflux
And 97 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TMCO1 gene
Here you will find a list of rare diseases related to the TMCO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CEREBROFACIOTHORACIC DYSPLASIA
Alternate names
CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1, cerebrofaciothoracic dysplasia
Description
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
Most common symptoms of CEREBROFACIOTHORACIC DYSPLASIA
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about CEREBROFACIOTHORACIC DYSPLASIA
Search interest in TMCO1
Potential gene panels for TMCO1 gene
Craniosynostosis (NGS panel for 30 genes) Panel
Portugal.
By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1
More info about this panel Portugal.
Cerebro-facio-thoracic dysplasia (sequence analysis of TMCO1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TMCO1 gene.
More info about this panel Portugal.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
TMCO1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TMCO1 gene.
More info about this panel United States.
TMCO1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TMCO1 gene.
More info about this panel United States.
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel that also includes the following genes: NSD1 CDKN1C TMCO1 SETD2 RNF135 DIS3L2 DNMT3A EZH2 GPC3 NFIX
More info about this panel United States.
TMCO1 Defect Syndrome Targeted Testing Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TMCO1 gene.
More info about this panel United States.
TMCO1 DEFECT SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TMCO1 gene.
More info about this panel Spain.
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