ABOUT

The Israeli medical Genetic Database (IMGD) is an online repository of genetic disorders in the Israeli population. The data is obtained mostly from publications in the medical literature as well as from some unpublished observations contributed from individual clinicians.

Efforts are made to ensure that IMGD is accurate and up-to-date. Nevertheless, there may be omissions and errors; thus, the data should be used with caution.

Feedback is welcomed; comments and suggestions will help improve this database for everyone.

This project is dedicated to the memory of the late Professor Richard M Goodman whose publications, specifically his book on genetic disorders among Jews, were an inspiration.

Hints for searching and reading the results

Jews

The largest group includes the Ashkenazi Jews who originated from Eastern and Central Europe. Non- Ashkenazi Jews are subdivided according to their country of origin before their migration to Israel.
In the Jewish population either in Israel or in the world, this database intends to include all recessive Mendelian disorders and dominant/ X linked Mendelian disorders that are either relatively frequent or have a specific mutation reported at an increased frequency.

Arabs

In the present database Arabs are of Palestinian origin either Israeli citizens or from the Palestinian Authority or reported as Palestinian Arabs without other details. The Arabs when details on the religion are known are divided accordingly as Muslim Arabs, Christian Arabs and Druze. The Muslim Arabs are categorized as either Muslims or Bedouins (when the distinction is known). Among Arabs the database intends to include all recessive Mendelian disorders and in the case of dominant and X linked Mendelian disorders all the mutations that were characterized in more than one family.  Most of the Arab population is living in villages, small towns with a strong tradition of marriages within the family. The origin of some of the patients is known and available in Search + (using a specific 'user name' and 'password').

Diseases and genes

The names of disorders and genes are listed as existing in OMIM. In order to facilitate the search of diseases there is also an option to free text search. In some cases, there is not yet an OMIM entry and a provisional number was given. In some cases the patients presented with a phenotype different from the one implied in the name of the disorder and this is mentioned in the phenotype column.

Search

A search may be done using the exact name or in the case of diseases it is possible to search using a general term included in the name of the disease, allowing therefore wider search (for instance retinitis pigmentosa). For ethnic groups a similar option is available. However, intentionally, the search according to ethnic groups does not include the possibility to search for Ashkenazi Jews or Muslim Arabs.

Search+

Number of chromosomes column
The number of alleles was calculated in the independent patients who are known and reported. In cases in which there are more than two non-related patients reported, the mutation is assumed to be a founder mutation. For Ashkenazi Jews the frequency in gnomAD browser was also taken into consideration in classifying the mutations.

Carrier frequency column

In certain cases, such as the Israeli Arabs or the Druze, the mutation(s) is limited to either one or two villages, a tribe or a region. Thus, the number indicated represents the frequency of the mutation in the particular village/tribe/region.
In cases when it was observed by the coordinator that the variant reported in patients is classified in ClinVar as benign or begin/likely benign it is mentioned in this column.

Source

When available/known the PubMed link is given. 
'p.c.' denotes personal communication; details may be available by contacting the coordinator.

Links

Varsome; Franklin.

Coordinator

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