CLP1 gene related symptoms and diseases
All the information presented here about the CLP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Progressive microcephaly | Very Common - Between 80% and 100% cases |
| Thin upper lip vermilion | Very Common - Between 80% and 100% cases |
| Irritability | Very Common - Between 80% and 100% cases |
| Abnormality of the cerebral white matter | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CLP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Highly arched eyebrow
- Brain atrophy
- Delayed myelination
- Underdeveloped nasal alae
- Esotropia
- Long eyelashes
- Sensorimotor neuropathy
- Cerebral cortical atrophy
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLP1 gene
Here you will find a list of rare diseases related to the CLP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PONTOCEREBELLAR HYPOPLASIA TYPE 10
Alternate names
PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10, clp1-related pontocerebellar hypoplasia
Description
Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 10
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10
Search interest in CLP1
Potential gene panels for CLP1 gene
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
Portugal.
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Portugal.
Pontocerebellar Hypoplasia via CLP1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CLP1 gene.
More info about this panel United States.
Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection that also includes the following genes: VRK1 TSEN34 TSEN15 CLP1 EXOSC3 RARS2 VPS53 TSEN54 TSEN2 SEPSECS
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.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Epileptic Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel Germany.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
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.
Spinal Muscular Atrophy, Proximal Motor Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Spinal Muscular Atrophy, Proximal Motor Neuropathy that also includes the following genes: TFG VAPB SLC52A3 MFN2 CLP1 BICD2 TRPV4 LAS1L DYNC1H1 SLC52A2
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Pontocerebellar hypoplasia, type 10 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLP1 gene.
More info about this panel Germany.
CLP1 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the CLP1 gene.
More info about this panel Netherlands.
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.
CLP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLP1 gene.
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
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