HUWE1 phenotypes and related 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: OMIM,NCBIGENE,HGNC,ORPHANET.

Top 5 symptoms associated to HUWE1 gene



Symptoms // Phenotype % Cases
Absent nares 100%
X-linked inheritance 100%
Seizures 100%
Global developmental delay 100%
Spasticity 100%

Other less frequent symptoms

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

100% Downslanted palpebral fissures 100% Hyperreflexia 100% Macrocephaly 100% Delayed speech and language development 100% Intellectual disability, severe 100% Intellectual disability, mild 100% Obesity 100% Coarse facial features 100% Hypertonia 100% Female infertility 100% Long face 100% Tapered finger 100% Hypotelorism 100% Abnormality of the fingernails 100% Intellectual disability, moderate 100% Holoprosencephaly 100% Pointed chin 100% Limited elbow extension 100% Delayed gross motor development 100% Long fingers 100% Macroorchidism 100% Ankle contracture 100% Intellectual disability

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: ORPHANET OMIM

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: ORPHANET OMIM

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: CLCN4 OGT PLP1 ABCD1 AIFM1 MECP2 MAOA CUL4B DLG3 TIMM8A And 104 more,

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University in United States. X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: HSD17B10 AP1S2 ATRX ARX BCOR OFD1 CUL4B CDKL5 DKC1 CLIC2 And 78 more,

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University in United States. X-linked Intellectual Disabilities Sequencing that also includes the following genes: HCCS AFF2 MECP2 MAOA L1CAM FANCB TIMM8A ZDHHC15 GDI1 PQBP1 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 and Science University in United States. X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: HCCS MECP2 MAOA L1CAM DLG3 TIMM8A ZDHHC15 FGD1 PQBP1 CDKL5 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: TAF2 NDST1 ARID1A ADNP SMARCA4 GRIN1 DDHD2 SLC25A1 D2HGDH PCNT 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: AGTR2 SMS L1CAM ARX ZNF81 SLC16A2 RAB39B PAK3 OCRL MID1 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: PTEN MECP2 IQSEC2 CHD8 ADNP CDKL5 SMC3 FMR1 RAI1 UBE3A And 186 more,

More info about this panel

IDNext Panel

By Ambry Genetics in United States. IDNext that also includes the following genes: OCRL AP1S2 ATRX DHCR7 ARX CACNA1A OFD1 CUL4B CHD7 DYNC1H1 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: OPHN1 GDI1 ARX AGTR2 SLC6A8 PAK3 PQBP1 AFF2 FMR1 IL1RAPL1 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: SLC16A2 MAOA AFF2 PAK3 NLGN4X FANCB FMR1 IQSEC2 ZDHHC9 USP9X 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: ARX ALG13 DLG3 SMS AFF2 CDKL5 FMR1 MAOA NLGN4X CUL4B 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: RAB39B TRIO TBC1D24 ARID1B SCN8A GRIN2B DLG3 FOXG1 CNTNAP2 AFF2 And 73 more,

More info about this panel

Macrocephaly Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Macrocephaly that also includes the following genes: PIK3R2 GNAQ EIF2B5 L1CAM DIS3L2 NFIX ABCC6 GRIA3 GPSM2 CUL4B 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: A2ML1 HSD17B10 ACTG1 AP1S2 AGTR2 ATRX IDUA DHCR7 ARX ARID1A And 331 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: A2ML1 DCHS1 MCOLN1 OPHN1 SMPD1 CREBBP ERCC6 HERC2 EMD AP1S2 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: NDUFA1 PAK3 KDM6A OFD1 PHF8 IQSEC2 AFF2 ARHGEF9 LAS1L ZNF711 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: GDI1 NLGN4X TUBA8 FGFR3 FANCB FLNA TREX1 TBC1D24 CHRNB2 SGCE 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: A2M CAV3 AMPD2 ARSI MAGI2 COL12A1 ALG2 GRID2 ITM2B TPP1 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 ATP1A2 GAMT GNAO1 KIF5C ADAR KCNT1 PRRT2 DYNC1H1 BRAT1 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: RAB39B ARX NDST1 METTL23 PTEN ZC4H2 OCRL TIMM8A SLC25A1 FMR1 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: COL7A1 IVD NPC1 BCKDHA GCDH TPP1 FKTN GNPTAB CLCN1 MMADHC 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: AP1S2 AGTR2 ATRX ARX DLG3 FGD1 IL1RAPL1 MECP2 NLGN4X PQBP1 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: MID1 MECP2 L1CAM TIMM8A CDKL5 FMR1 GDI1 RBM10 PQBP1 ZDHHC9 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: GFAP FKRP MAPT GAMT SACS ERCC6 AP3B1 NDUFA1 PRICKLE1 SPR 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: MECP2 CDKL5 OCRL ARHGEF9 FANCB OFD1 AGTR2 IQSEC2 PQBP1 WDR13 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 ADAMTS10 ADAMTS2 ACTA1 ACTG1 ALPL AGPS ANKH PAPSS2 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 AP1S2 AGTR2 ATRX ARX BCOR OFD1 CUL4B CDKL5 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 OFD1 CUL4B CHD8 GLI3 HEPACAM PIK3CA NSD1 TSC2 And 28 more,

More info about this panel

Other genes that you may find interesting

CDH23