GIGYF2 gene related symptoms and diseases

All the information presented here about the GIGYF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GIGYF2 gene

Symptoms // Phenotype % Cases
Resting tremor Common - Between 50% and 80% cases
Parkinsonism with favorable response to dopaminergic medication Common - Between 50% and 80% cases
Bradykinesia Common - Between 50% and 80% cases
Postural instability Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with GIGYF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hearing impairment
  • Apathy
  • Parkinsonism
  • Gliosis
  • Frequent falls
  • Diplopia
  • Schizophrenia
  • Akinesia

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GIGYF2 gene

Here you will find a list of rare diseases related to the GIGYF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SNOWFLAKE VITREORETINAL DEGENERATION


Alternate names

SNOWFLAKE VITREORETINAL DEGENERATION Is also known as snowflake vitreoretinal degeneration

Description

Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

Most common symptoms of SNOWFLAKE VITREORETINAL DEGENERATION

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Arthritis
  • Cleft lip


More info about SNOWFLAKE VITREORETINAL DEGENERATION

SOURCES: MESH OMIM ORPHANET

PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11


Most common symptoms of PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11

  • Rigidity
  • Postural instability
  • Bradykinesia
  • Resting tremor
  • Parkinsonism with favorable response to dopaminergic medication


More info about PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11

SOURCES: MESH OMIM

HEREDITARY LATE-ONSET PARKINSON DISEASE


Alternate names

HEREDITARY LATE-ONSET PARKINSON DISEASE Is also known as autosomal dominant late-onset parkinson disease, lopd

Description

Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

Most common symptoms of HEREDITARY LATE-ONSET PARKINSON DISEASE

  • Dysphagia
  • Dystonia
  • Depressivity
  • Dementia
  • Cerebral cortical atrophy


More info about HEREDITARY LATE-ONSET PARKINSON DISEASE

SOURCES: ORPHANET


Potential gene panels for GIGYF2 gene

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

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

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

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

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

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

GIGYF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GIGYF2 gene.

More info about this panel


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