HERC2 gene related symptoms and diseases

All the information presented here about the HERC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HERC2 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Plagiocephaly Uncommon - Between 30% and 50% cases
Generalized hypopigmentation Uncommon - Between 30% and 50% cases
Albinism Uncommon - Between 30% and 50% cases
Abnormality of the eye Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HERC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Diminished ability to concentrate
  • Blue irides
  • Self-mutilation
  • Impulsivity
  • Poor suck
  • Sandal gap
  • Seizures
  • Narrow palate

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HERC2 gene

Here you will find a list of rare diseases related to the HERC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY


Alternate names

DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY Is also known as developmental delay with asd and gait instability

Description

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.

Most common symptoms of DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus


More info about DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY

SOURCES: OMIM ORPHANET

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1


Alternate names

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 Is also known as eye color, blue/nonblue, skin/hair/eye pigmentation 1, blue/nonblue eyes, brown eye color 2, eycl3, bey2, eye color 3, skin/hair/eye pigmentation 1, blue/brown eyes, eye color, brown/blue, hair color 3, skin/hair/eye pigmentation 1, blond/brown hair, hcl3

Description

Genetic Heterogeneity of Variation in Skin/Hair/Eye PigmentationMultiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM ) is determined by variation at the MC1R locus (OMIM ) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM ) encompasses pigment variation influenced by the TYR gene (OMIM ); SHEP4 (OMIM ), that influenced by the SLC24A5 gene (OMIM ). Variation in the SLC45A2 (OMIM ) and SLC24A4 (OMIM ) genes result in the phenotypic associations SHEP5 (OMIM ) and SHEP6 (OMIM ), respectively. Sequence variation thought to affect expression of KITLG (OMIM ) results in the SHEP7 (OMIM ) phenotypic association. SHEP8 (OMIM ) is associated with variation in the IRF4 gene (OMIM ). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM ) influences the SHEP9 association (OMIM ). The SHEP10 association (OMIM ) comprises variation in the TPCN2 gene (OMIM ), and SHEP11 (OMIM ) is associated with polymorphism near the TYRP1 gene (OMIM ).

Most common symptoms of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1

  • Abnormality of the eye
  • Albinism
  • Generalized hypopigmentation
  • Red hair


More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1

SOURCES: OMIM


Potential gene panels for HERC2 gene

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

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Angelman Syndrome and Differential Diagnoses Panel

Germany.

By MGZ Medical Genetics Center Angelman Syndrome and Differential Diagnoses that also includes the following genes: SLC9A6 KDM5C CDKL5 SYNGAP1 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX

More info about this panel

HERC2 (NGS sequencing) Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HERC2 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

Rett, Syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Rett, Syndrome that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

More info about this panel

HERC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HERC2 gene.

More info about this panel

Prader-Willi syndrome Panel

Spain.

By Bioarray

This panel specifically test the HERC2 gene.

More info about this panel

HERC2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the HERC2 gene.

More info about this panel

HERC2 Defect Syndrome Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the HERC2 gene.

More info about this panel

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel

Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

More info about this panel

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

Spain.

By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP

More info about this panel

Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: ST3GAL3 STXBP1 TAF2 VLDLR ERLIN2 CA8 CNTNAP2 FMN2 ZC3H14 CRADD

More info about this panel


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