1. Mendelian
  2. Rare Disease Genes
  3. TERF2IP

TERF2IP gene related symptoms and diseases

All the information presented here about the TERF2IP 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.

Table of contents:

Top 5 symptoms and clinical features associated to TERF2IP gene

Symptoms // Phenotype % Cases
Retinopathy Very Common - Between 80% and 100% cases
Dry skin Very Common - Between 80% and 100% cases
Nevus Very Common - Between 80% and 100% cases
Abnormality of extrapyramidal motor function Very Common - Between 80% and 100% cases
Abnormality of the hair Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TERF2IP gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Melanoma
  • Freckling
  • Neoplasm of the pancreas
  • Abnormality of the lymphatic system
  • Neoplasm of the breast
  • Neoplasm of the stomach

Rare diseases associated to TERF2IP gene

Here you will find a list of rare diseases related to the TERF2IP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL MELANOMA

Description

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Most common symptoms of FAMILIAL MELANOMA

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


More info about FAMILIAL MELANOMA

SOURCES: ORPHANET


Potential gene panels for TERF2IP gene

Tier 1: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 1: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: TP53 POT1 TERF2IP ACD KLHDC8B MLH1 MSH2 MSH6 NPAT PMS2

More info about this panel
United States.

TERF2IP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TERF2IP gene.

More info about this panel
United States.

Inherited Bone Marrow Failure Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel
United States.

MELANOMA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MELANOMA NGS PANEL that also includes the following genes: BRCA1 BRCA2 TERT TP53 WRN POT1 CDK4 CDKN2A CDKN2B TERF2IP

More info about this panel
Spain.

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