TAF1 gene related symptoms and diseases

All the information presented here about the TAF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TAF1 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Tremor Very Common - Between 80% and 100% cases
Dystonia Very Common - Between 80% and 100% cases
Sparse hair Uncommon - Between 30% and 50% cases
Broad nasal tip Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TAF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • High, narrow palate
  • Hirsutism
  • Bulbous nose
  • Joint hypermobility
  • Long face
  • Abnormality of eye movement
  • Synophrys
  • Attention deficit hyperactivity disorder

And 90 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TAF1 gene

Here you will find a list of rare diseases related to the TAF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED DYSTONIA-PARKINSONISM


Alternate names

X-LINKED DYSTONIA-PARKINSONISM Is also known as lubag, lubag syndrome, torsion dystonia-parkinsonism, filipino type, xdp, dyt3, dystonia-parkinsonism, x-linked

Description

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.

Most common symptoms of X-LINKED DYSTONIA-PARKINSONISM

  • Hearing impairment
  • Tremor
  • Dystonia
  • Myoclonus
  • Difficulty walking


More info about X-LINKED DYSTONIA-PARKINSONISM

SOURCES: ORPHANET OMIM MESH

X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


Description

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for TAF1 gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Parkinson's Disease Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Torsion dystonia 3 (DYT3, sequence analysis of TAF1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TAF1 gene.

More info about this panel

Parkinson disease (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Dystonia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

Dystonia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A

More info about this panel

Parkinson Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2

More info about this panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8

More info about this panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel

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

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

DYT3 - dystonia, X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TAF1 gene.

More info about this panel

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

Parkinsons disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Hereditary Degenerative Syndromes Panel Panel

Germany.

By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A

More info about this panel

Parkinson all Panel Panel

Germany.

By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7

More info about this panel

Parkinson Dystonia Panel Panel

Germany.

By CeGaT GmbH Parkinson Dystonia Panel that also includes the following genes: SLC6A3 SPR TAF1 TH SLC30A10 GCH1 ATP1A3 PLA2G6 PRKRA

More info about this panel

Dystonia Plus Syndrome Panel Panel

Germany.

By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1

More info about this panel

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel

Dystonia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB

More info about this panel

Parkinson Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7

More info about this panel

PARKINSON DISEASE Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases PARKINSON DISEASE that also includes the following genes: SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN PLA2G6

More info about this panel

DYSTONIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3

More info about this panel

NGS panel - Parkinson Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Dystonia Dyskinesia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A

More info about this panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

TAF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TAF1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Dystonia 3 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the TAF1 gene.

More info about this panel

Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3

More info about this panel

Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes Panel

Spain.

By Reference Laboratory Genetics Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SLC6A3 SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN

More info about this panel

X-Linked Dystonia-Parkinsonism , Massive Sequencing (NGS) TAF1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TAF1 gene.

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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

X-Linked Dystonia-Parkinsonism (XPD) haplotyping: TAF1/DYT3 targeted gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the TAF1 gene.

More info about this panel

Parkinson Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Parkinson Disease: gene sequencing panel that also includes the following genes: SLC6A3 SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN

More info about this panel


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