TAF15 gene related symptoms and diseases

All the information presented here about the TAF15 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TAF15 gene

Symptoms // Phenotype % Cases
Microcephaly Uncommon - Between 30% and 50% cases
Abnormal lower motor neuron morphology Uncommon - Between 30% and 50% cases
Sleep apnea Uncommon - Between 30% and 50% cases
Slurred speech Uncommon - Between 30% and 50% cases
Emotional lability Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TAF15 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Amyotrophic lateral sclerosis
  • Agitation
  • Bulbar palsy
  • Muscle fibrillation
  • Xerostomia
  • Frontotemporal dementia
  • Degeneration of anterior horn cells
  • Peripheral demyelination

And 37 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TAF15 gene

Here you will find a list of rare diseases related to the TAF15. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMYOTROPHIC LATERAL SCLEROSIS


Alternate names

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


More info about AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: OMIM MESH ORPHANET

EXTRASKELETAL MYXOID CHONDROSARCOMA


Alternate names

EXTRASKELETAL MYXOID CHONDROSARCOMA Is also known as emc

Description

Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002).

Most common symptoms of EXTRASKELETAL MYXOID CHONDROSARCOMA

  • Neoplasm
  • Chondrosarcoma
  • Soft tissue neoplasm


More info about EXTRASKELETAL MYXOID CHONDROSARCOMA

SOURCES: ORPHANET OMIM


Potential gene panels for TAF15 gene

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel

TAF15 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TAF15 gene.

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel

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

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


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