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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in HERC2

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

HERC2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to HERC2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to HERC2 gene

DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY

Alternate names

Description

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

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

Alternate names

Description

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

Search interest in HERC2

Potential gene panels for HERC2 gene

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Angelman Syndrome and Differential Diagnoses Panel

HERC2 (NGS sequencing) Panel

AllNeuro panel Panel

Rett, Syndrome Panel

HERC2 Panel

Prader-Willi syndrome Panel

HERC2 Gene Sequencing and Deletion/Duplication Analysis Panel

HERC2 Defect Syndrome Targeted Testing Panel

Exome Panel

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

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

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