RNF135 gene related symptoms and diseases
All the information presented here about the RNF135 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RNF135 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Overgrowth | Very Common - Between 80% and 100% cases |
| Cranial asymmetry | Very Common - Between 80% and 100% cases |
| Abnormal pulmonary valve morphology | Very Common - Between 80% and 100% cases |
| Unilateral cryptorchidism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RNF135 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Speech apraxia
- Abnormality of the sternum
- Neurofibromas
- Large for gestational age
- Optic nerve hypoplasia
- Accelerated skeletal maturation
- Tall stature
- Thick lower lip vermilion
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RNF135 gene
Here you will find a list of rare diseases related to the RNF135. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME
Description
This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.
Most common symptoms of OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME
- Hearing impairment
- Ataxia
- Strabismus
- Abnormal facial shape
- Macrocephaly
More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME
Search interest in RNF135
Potential gene panels for RNF135 gene
NGS Overgrowth/Macrocephaly Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3
More info about this panel United States.
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.
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.
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.
RNF135 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RNF135 gene.
More info about this panel United States.
Macrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Finland.
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.
RNF135 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 RNF135 gene.
More info about this panel United States.
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