Privacy statement

Privacy statement and terms of use

* For the purpose of compiling the personalized health templates available on this platform, I declare

Please read the privacy statement before proceeding

1. General information

Enter general information about the patient and caregiver. Pictures are helpful but not required.

Name of the person who fills out the form

Patient information

Upload picture

Based on evaluation through the Undiagnosed Diseases Program (UDP), the likely cause of the patient's condition has been identified as

Please specify: *

2. Main signs/symptoms

Enter individual signs/symptoms from the human body graphic.

HELP: Drag and drop the affected areas in order of importance, then click on the checkbox to add the signs/symptoms referring to each area.

3. Evaluations

Enter previous key evaluations and family history.

Previous key evaluations

As came into the UDP, a unifying diagnosis had not been made despite extensive evaluations that included the following key investigations:

Family History

A three-generation family history shows the following:

4. Test Results and Discussion

Your conclusions regarding the patient

After discussing history and signs/symptoms in detail, the team decided to proceed with

Based on this new testing and discussion within our team, we now believe we have identified the likely cause of condition – a change in a/changes in described as

What is the and how is it different in ?

The SINGLE GENE is one of the approximately 20,000 that are present in the cells of our body.
Each gene comes in two copies and has a very specific job. To do that job, our genes make proteins that make everything in the body work, grow and function properly.
A gene is made up of a long string of many letters (A, C, G and T) that act as an instruction manual for how to make a specific protein. If there are any spelling mistakes in that instruction manual (called a variant), it can cause the gene to make either an abnormal protein or no protein at all, which can cause genetic conditions. Sequencing is the process where the lab reads through the letters of a gene and looks for any changes that may affect how the gene works.

In each human cell (except eggs and sperm), there are usually 46 chromosomes. There are pairs of each chromosome which vary in size. Therefore, there are 23 pairs of chromosomes, one of each pair being inherited from each parent. There are 22 numbered chromosomes roughly ordered from largest to smallest (i.e. 1-22)- these are called autosomes. There are also two sex chromosomes, called X and Y.

Along their length, each chromosome has a narrow point, called the centromere. This divides the chromosome into two sections or arms. Numbering the chromosomes and labelling their arms identifies important sections of chromosomes.

Change/s in the

 Chromosome/sGenes involvedType of changeInheritanceComment
 Predicted Class/sGenesChromosomeNucleotide ChangeProtein ChangeZygosityEffectInheritance

Type of change identified in :

What is known about the function of the ?

Effect of change on protein

Select relevant graphic or upload other graphic

Upload picture

Publication summary

Add links to any relevant publications and condition-specific resources

Database/network search and research connection summary

(if applicable) Add links to relevant database/s and/or research groups contacted to clarify diagnosis.

While investigating result, we connected with other specialists through a database called

5. Future actions

Actions to take in the future

Why did this happen?

Select relevant option/s

Testing of parents has shown that the change/s happened as a spontaneous (de novo) event.

Testing has shown that the change/s were inherited from mother/father. This inheritance pattern is called autosomal dominant.

Testing has shown that the has/have occurred in one of the chromosome/s pair/s. This inheritance pattern is called autosomal dominant.

Testing has shown that the change/s is/are present in some, but not all, of cells. This is called mosaicism. Mosaicism means that a person has a mixture of cells with different genetic information. This can occur in the cells of one part of the body (such as the egg or sperm) or as a mixture throughout all of a person's cells.

Testing of both parents has shown that each carries a copy of the change and have passed this down to .
This inheritance pattern is called autosomal recessive.
Autosomal recessive inheritance (genetics.edu.au)

Testing of parents has shown that the change was inherited from his mother, who is a healthy carrier of the condition.
This inheritance pattern is called X-linked recessive.
X-Linked_recessive_inheritance_fact_sheet-CGE.pdf (genetics.edu.au)

Testing of 's parents has shown that the change was inherited from his/her mother, who also has the same condition.
This inheritance pattern is called X-linked dominant.

Testing has shown that 's condition has resulted from a change affecting parts of their cells called mitochondria. While most of the DNA in cells is found in the nucleus, some important genes are also located in the mitochondria.

Although the mitochondria and the DNA inside are passed to children from their mother, genetic changes can cause mitochondrial disorders in different ways.
This inheritance pattern is called mitochondrial inheritance.

Implications of change for and the rest of the family

What about the future?

has a very rare condition so while some information is available, it is still relatively scarce. It is likely that individuals with -related disorder will be increasingly diagnosed, so we expect that over time more information about health issues and long-term outcomes will become available.

What can be done?

Based on our discussion, we have the following recommendations for moving forward:

Ongoing care management and coordination:

Therapies:

Other specialities:

Consider sharing your story with other families and researchers, as it is through these networks that information can be gathered more quickly, for the benefit of everyone. We are happy to help with sharing de-identified information within the network of doctors and researchers doing work on this gene, should you choose to do so.

6. Addendum

Other relevant information.

Additional findings from Whole Genome Sequencing

Variants of uncertain significance:

The lab identified a few genetic changes unrelated to 's presentation, but which may increase the risk for some late-onset conditions.

has a few differences called 'pharmacogenetic variants', which may influence the way they respond to certain medications. These are the specific variants detected:

The lab did not identify any other disease-causing changes in the genes defined as medically actionable by the American College of Medical Genetics.

The Food and Drug Administration (FDA) regularly updates a list showing possible interactions between specific variants and medications. health care providers may find this information useful if certain medications are required in the future . Please refer to Table of Pharmacogenetic Associations published by FDA: https://www.fda.gov/medical-devices/precision-medicine/table-pharmacogenetic-associations

Resource and support links

After the journey to find an answer, receiving a rare diagnosis can be a time of mixed feelings and more questions. Although information and support specific to the diagnosis is often limited, general resources can help with many aspects of daily life as well as moving forward.

Add your own links, edit or provide the examples below from the UDNI Genetic Counseling Resource library.

Family wellbeing
Rare disease information and support

For more information and support resources, click here to go to the UDNI Rare Diagnosis Resource Roadmap.

Thank you!

UDNI and Undiagnosed Diseases Program participation

Thank you for sharing your story and letting us be part of your journey. Please don't hesitate to contact us if you have any further questions.