CTNNA2 gene related symptoms and diseases
All the information presented here about the CTNNA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CTNNA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Ataxia | Very Common - Between 80% and 100% cases |
| Hyperreflexia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CTNNA2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cerebellar hypoplasia
- Tetraplegia
- Spastic tetraplegia
- Pachygyria
- Postnatal microcephaly
- Hypoplasia of the brainstem
- Cortical dysplasia
Rare diseases associated to CTNNA2 gene
Here you will find a list of rare diseases related to the CTNNA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
Description
Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).
Most common symptoms of CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
- Seizures
- Generalized hypotonia
- Microcephaly
- Ataxia
- Hyperreflexia
More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
SOURCES: OMIM
Search interest in CTNNA2
Potential gene panels for CTNNA2 gene
Neuronal migration disorder (sequence analysis of CTNNA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CTNNA2 gene.
More info about this panel Portugal.
Neuronal migration disorder Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CTNNA2 gene.
More info about this panel Germany.
CTNNA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CTNNA2 gene.
More info about this panel United States.
Focus::MCL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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