TBL1XR1 gene related symptoms and diseases

All the information presented here about the TBL1XR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to TBL1XR1 gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Global developmental delay	Common - Between 50% and 80% cases
Microcephaly	Common - Between 50% and 80% cases
Leukemia	Uncommon - Between 30% and 50% cases
Smooth philtrum	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TBL1XR1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Full cheeks
Microcornea
Short foot
Everted lower lip vermilion
Wide nose
Short palm
Thin vermilion border
Telecanthus

And 73 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TBL1XR1 gene

Here you will find a list of rare diseases related to the TBL1XR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ACUTE PROMYELOCYTIC LEUKEMIA

Alternate names

ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic

Description

Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

Leukemia
Acute promyelocytic leukemia
Abnormal granulocytopoietic cell morphology

More info about ACUTE PROMYELOCYTIC LEUKEMIA

SOURCES: OMIM ORPHANET MESH

MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Intellectual disability
Seizures
Global developmental delay
Microcephaly
High palate

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

SOURCES: OMIM

PIERPONT SYNDROME

Alternate names

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay, plantar lipomatosis-facial dysmorphism-developmental delay syndrome, plantar lipomatosis-unusual facies-developmental delay syndrome

Description

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

Most common symptoms of PIERPONT SYNDROME

Seizures
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment

More info about PIERPONT SYNDROME

SOURCES: ORPHANET OMIM MESH

Search interest in TBL1XR1

Potential gene panels for TBL1XR1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

TBL1XR1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TBL1XR1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to TBL1XR1 gene

ACUTE PROMYELOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

PIERPONT SYNDROME

Alternate names

Description

Most common symptoms of PIERPONT SYNDROME

Search interest in TBL1XR1

Potential gene panels for TBL1XR1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel

Syndromic Autism Panel Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

AllNeuro panel Panel

Comprehensive Epilepsy NGS Panel Panel

TBL1XR1 Panel

Comprehensive Epilepsy Panel Panel

FoundationOne® Heme Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Tempus xT assay Panel

Tempus xO assay Panel