TBC1D7 gene related symptoms and diseases
All the information presented here about the TBC1D7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TBC1D7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Dolichocephaly | Uncommon - Between 30% and 50% cases |
| Cortical tubers | Uncommon - Between 30% and 50% cases |
| Patellar subluxation | Uncommon - Between 30% and 50% cases |
| Megalencephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TBC1D7 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Patellar dislocation
- Scaphocephaly
- Abnormality of the musculature
- Celiac disease
- Pointed chin
- Psychosis
- Astigmatism
- Broad forehead
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TBC1D7 gene
Here you will find a list of rare diseases related to the TBC1D7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
Description
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Most common symptoms of MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
- Intellectual disability
- Seizures
- Global developmental delay
- Abnormal facial shape
- Cognitive impairment
More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
ISOLATED MEGALENCEPHALY
Alternate names
ISOLATED MEGALENCEPHALY Is also known as isolated macrencephaly
More info about ISOLATED MEGALENCEPHALY
SOURCES: ORPHANET
Search interest in TBC1D7
Potential gene panels for TBC1D7 gene
Macrocephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
Macrocephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
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.
Macrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
TBC1D7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBC1D7 gene.
More info about this panel United States.
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