TBC1D20 gene related symptoms and diseases
All the information presented here about the TBC1D20 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 TBC1D20 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Tetraplegia | Very Common - Between 80% and 100% cases |
| Postnatal microcephaly | Very Common - Between 80% and 100% cases |
| Pachygyria | Very Common - Between 80% and 100% cases |
| Cerebellar vermis hypoplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TBC1D20 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spastic tetraplegia
- Hypoplasia of penis
- Decreased testicular size
- Abnormal cerebellum morphology
- Cerebral visual impairment
- Microcornea
- Hirsutism
- Polymicrogyria
And 59 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TBC1D20 gene
Here you will find a list of rare diseases related to the TBC1D20. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MICRO SYNDROME
Alternate names
MICRO SYNDROME Is also known as warbm, warburg micro syndrome
Description
Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
Most common symptoms of MICRO SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MICRO SYNDROME
Search interest in TBC1D20
Potential gene panels for TBC1D20 gene
Polymicrogyria Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Polymicrogyria Deletion/Duplication Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
More info about this panel United States.
Cerebral Cortical Malformation Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Warburg Micro Syndrome Comprehensive Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Warburg Micro Syndrome Comprehensive Panel that also includes the following genes: RAB18 TBC1D20 RAB3GAP1 RAB3GAP2
More info about this panel United States.
Polymicrogyria Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Polymicrogyria Sequencing Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
More info about this panel United States.
Warburg Micro Syndrome Sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Warburg Micro Syndrome Sequencing panel that also includes the following genes: RAB18 TBC1D20 RAB3GAP1 RAB3GAP2
More info about this panel United States.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Cerebral Cortical Malformations Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
Warburg Micro Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Warburg Micro Syndrome Sequencing Panel with CNV Detection that also includes the following genes: RAB18 TBC1D20 RAB3GAP1 RAB3GAP2
More info about this panel United States.
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
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.
Cataract Panel
Germany.
By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Micro syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Micro syndrome panel that also includes the following genes: RAB18 TBC1D20 RAB3GAP1 RAB3GAP2 CUL7 CREBBP ALDH18A1
More info about this panel Germany.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
TBC1D20 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBC1D20 gene.
More info about this panel United States.
WARBURG MICRO SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL WARBURG MICRO SYNDROME that also includes the following genes: RAB18 TBC1D20 RAB3GAP1 RAB3GAP2
More info about this panel Spain.
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