HUWE1 gene related symptoms and diseases

All the information presented here about the HUWE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET.

Top 5 symptoms associated to HUWE1 gene



Symptoms // Phenotype % Cases
Absent nares 100%
Hypertonia 100%
Seizures 100%
Global developmental delay 100%
Downslanted palpebral fissures 100%

Other less frequent symptoms

Patients with HUWE1 gene alterations may also develop some of the following symptoms and phenotypes:

100% Spasticity 100% Hyperreflexia 100% Macrocephaly 100% Delayed speech and language development 100% Intellectual disability, severe 100% Intellectual disability, mild 100% Obesity 100% Coarse facial features

And 15 more phenotypes.
View the complete list

Rare diseases associated to HUWE1 gene

Here you can will find a list of rare diseases related to the HUWE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE

Alternate names

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE Is also known as mental retardation and macrocephaly syndrome;

Most common symptoms of SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE

  • Absent nares
  • Female infertility
  • Ankle contracture
  • Macroorchidism
  • Long fingers


More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE

SOURCES: OMIM ORPHANET

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE

Alternate names

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE Is also known as mental retardation and macrocephaly syndrome;

Most common symptoms of SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE

  • Absent nares
  • Female infertility
  • Ankle contracture
  • Macroorchidism
  • Long fingers


More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY TURNER TYPE

SOURCES: OMIM ORPHANET

Potential gene panels for HUWE1 gene

NGS XLID Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NGS XLID Panel that also includes the following genes: PLP1 IDS ABCD1 AIFM1 MECP2 DLG3 FGD1 ZDHHC9 BRWD3 CDKL5 And 104 more,

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: HSD17B10 ACSL4 ATRX ARX ATP7A BCOR BRWD3 OFD1 CDKL5 DKC1 And 78 more,

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. X-linked Intellectual Disabilities Sequencing that also includes the following genes: HSD17B10 ACSL4 ATRX ARX ATP7A BCOR BRWD3 OFD1 CDKL5 DKC1 And 78 more,

More info about this panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: CCDC22 PGK1 PDHA1 OPHN1 OFD1 OCRL PHF6 PCDH19 OTC PLP1 And 77 more,

More info about this panel

Non-Specific Intellectual Disability Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Non-Specific Intellectual Disability Panel that also includes the following genes: AP4B1 ZMYND11 TAF2 SOX11 SETD5 PGAP1 METTL23 WASHC4 FMN2 FBXO31 And 163 more,

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

By Genetic Services Laboratory University of Chicago in United States. X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: ACSL4 RPL10 ZDHHC15 SMS PDHA1 L1CAM IGBP1 HPRT1 EIF2S3 CLIC2 And 69 more,

More info about this panel

Neurodevelopment-Expanded Panel

By Ambry Genetics in United States. Neurodevelopment-Expanded that also includes the following genes: SLC2A1 GRIN2B FLNA DNM1 PNKP FOXG1 MED12 SCN1A SCARB2 CHRNA2 And 186 more,

More info about this panel

IDNext Panel

By Ambry Genetics in United States. IDNext that also includes the following genes: OCRL AP4B1 ACSL4 ATRX ARX ATP7A BRWD3 CACNA1A OFD1 CHD7 And 130 more,

More info about this panel

Mental retardation X-linked, Turner type (sequence analysis of HUWE1 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the HUWE1 gene.

More info about this panel

X-linked mental retardation (deletion/duplication analysis, multiple genes) Panel

By CGC Genetics in Portugal. X-linked mental retardation (deletion/duplication analysis, multiple genes) that also includes the following genes: AFF2 ARHGEF6 AGTR2 ACSL4 FMR1 ARX OPHN1 RPS6KA3 GDI1 DCX And 6 more,

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

By CGC Genetics in Portugal. Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RAB39B RPS6KA3 SOX3 SMS SLC9A6 SYN1 SRPX2 MECP2 MED12 L1CAM And 79 more,

More info about this panel

X-Linked Intellectual Disability Sequencing Panel Panel

By PreventionGenetics PreventionGenetics in United States. X-Linked Intellectual Disability Sequencing Panel that also includes the following genes: CCDC22 USP9X CNKSR2 ZC4H2 PDHA1 AIFM1 CLIC2 DLG3 RPL10 IDS And 71 more,

More info about this panel

Intellectual Disability (Syndromic and Non-Syndromic) via the HUWE1 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the HUWE1 gene.

More info about this panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel Panel

By PreventionGenetics PreventionGenetics in United States. Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel that also includes the following genes: PRSS12 ACSL4 ATRX ARX BRWD3 CTNNB1 CRBN DDX3X DLG3 FGD1 And 73 more,

More info about this panel

Mental retardation - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Mental retardation - different panels that also includes the following genes: UBR1 UPB1 GATM MOGS KIF11 BCS1L ANKH RAB3GAP1 COG5 TUBGCP6 And 857 more,

More info about this panel

Macrocephaly Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Macrocephaly that also includes the following genes: GNAQ EIF2B5 L1CAM ABCC6 EZH2 GRIA3 GPSM2 TSC2 MED12 CHD8 And 32 more,

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Mental Retardation and Dysmorphology - panels that also includes the following genes: HSD17B10 AGTR2 ANK3 ACSL4 ATRX ARX ATP7A ALX3 ABCC6 ABCC9 And 333 more,

More info about this panel

Syndromal Diseases - panels Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Syndromal Diseases - panels that also includes the following genes: CTNNB1 DCHS1 SMARCA2 SRPX2 NOG FANCB IGBP1 FHL1 GRIN2B OPHN1 And 332 more,

More info about this panel

X-Linked Mental Retardation Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. X-Linked Mental Retardation that also includes the following genes: OCRL OTC OPHN1 OFD1 PHF6 PGK1 PDHA1 PCDH19 PLP1 PHF8 And 103 more,

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Brain Malformations / Neuronal Migration Disorders that also includes the following genes: TUBA8 FGFR3 FANCB FLNA TBC1D24 CLP1 CHRNB2 SGCE SCARB2 SEPSECS And 256 more,

More info about this panel

Mental retardation X-linked, Turner type Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the HUWE1 gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: MTOR JRK CAV3 NXF5 AMPD2 SCN3A ZCCHC12 ARSI USP8 TTN And 1195 more,

More info about this panel

Epilepsy Panel

By Asper Biogene Asper Biogene LLC in Estonia. Epilepsy that also includes the following genes: CACNA1A FGF12 DNM1 KCNB1 GABRA1 SZT2 CHD2 TBC1D24 DEPDC5 TSC2 And 114 more,

More info about this panel

devSEEK® Sequence Analysis for Neurodevelopmental Disorders Panel

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States. devSEEK® Sequence Analysis for Neurodevelopmental Disorders that also includes the following genes: MED12 EBP ATRX L1CAM ADNP SOX11 USP9X TSC1 SOX3 RPS6KA3 And 191 more,

More info about this panel

qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL in Spain. qCarrier Plus that also includes the following genes: ADA ABCD1 BRWD3 SLC22A5 DUOXA2 JAK3 FKRP CLN3 AR COL4A4 And 290 more,

More info about this panel

Mental retardation, X-linked, non-syndromic Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Mental retardation, X-linked, non-syndromic that also includes the following genes: ACSL4 AGTR2 ATRX ARX BRWD3 DLG3 FGD1 MECP2 ARHGEF6 RPS6KA3 And 21 more,

More info about this panel

XLID, HUWE1-Related: HUWE1 Full Gene Sequencing Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

This panel specifically test the HUWE1 gene.

More info about this panel

XLID, HUWE1-Related: HUWE1 Gene Deletion/Duplication Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

This panel specifically test the HUWE1 gene.

More info about this panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: NDUFA1 SMS OFD1 ATP6AP2 HSD17B10 RPS6KA3 CCDC22 CNKSR2 SOX3 OCRL And 81 more,

More info about this panel

Intellectual Disability NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Intellectual Disability NGS Panel that also includes the following genes: FKTN KRAS FGFR2 USP9X ARX CEP41 CDKN1C SMARCA4 TUBB3 AVP And 382 more,

More info about this panel

XLID NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. XLID NGS Panel that also includes the following genes: ARX GSPT2 ZCCHC12 ATP7A PDHA1 SRPX2 SLC9A6 BCOR HPRT1 FLNA And 97 more,

More info about this panel

HUWE1 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the HUWE1 gene.

More info about this panel

Comprehensive Skeletal / Malformation Syndrome Panel Panel

By Blueprint Genetics in Finland. Comprehensive Skeletal / Malformation Syndrome Panel that also includes the following genes: ABCC6 DHCR24 ADAMTS2 ACTA1 ADAMTSL2 ALPL ARFGEF2 ANKH RARS2 BMP2 And 419 more,

More info about this panel

X-linked Developmental Delay Panel Panel

By Blueprint Genetics in Finland. X-linked Developmental Delay Panel that also includes the following genes: ABCD1 HSD17B10 AGTR2 ACSL4 ATRX ARX ATP7A BCOR BRWD3 OFD1 And 83 more,

More info about this panel

Macrocephaly / Overgrowth Syndrome Panel Panel

By Blueprint Genetics in Finland. Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: ABCC6 DHCR24 BRWD3 OFD1 CHD8 CDKN1C MED12 HEPACAM CCND2 PTCH1 And 28 more,

More info about this panel

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