Medical Genetics - V. M. Zaporozhan 2005

Monogenic Disorders
V. McKusick's Catalog of Genes and Mendelian Inheritance

A significant contribution to the systematization and generalization of information on human chromosome genetic maps, the Localization and Functions of individual genes, and genome Structure as a whole was made by researchers led by Professor Victor McKusick. Conducting their research since the early 1960s at Johns Hopkins University in Baltimore (USA), they systematically published catalogs compiling data on all mapped human genes and associated monogenic hereditary disorders under the title Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. The 12th and final print edition of this reference work was published in 1998 — McKusick, V. A. Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. Baltimore: Johns Hopkins University Press, 1998 (12th edition).

The reference book contains a catalog of human genes and Monogenic Disorders with a distinct clinical focus. It provides information on identified and mapped human genes, their encoded Proteins, mutant alleles, and the diseases caused by them.

Each locus and phenotype in the catalog is assigned a six-digit MIM (Mendelian Inheritance in Man) number, which is now the international standard identifier for monogenic disorders. The first digit of this number indicates the mode of inheritance.

1 — (100000–) autosomal dominant genes or phenotypes (entered into the catalog before May 15, 1994).

2 — (200000–) autosomal recessive genes or phenotypes (entered into the catalog before May 15, 1994).

3 — (300000–) X-linked genes or phenotypes.

4 — (400000–) Y-linked genes or phenotypes.

5 — (500000–) Mitochondrial Genes or phenotypes.

6 — (600000–) autosomal genes or phenotypes (entered into the catalog after May 15, 1994).

The four digits following the decimal point directly after the six-digit number are used to encode various mutation variants of a given Gene. For example, various Mutations in the coagulation factor IX gene (hemophilia B) are numbered from 306900.0001 to 306900.0101. The ß-globin gene is assigned the number 141900, and the Sickle-Cell Anemia mutation is designated as 141900.0243.

Since 1998, the catalog has no longer been published in print and exists as an electronic version updated daily on the Internet under the acronym OMIM (Online Mendelian Inheritance in Man). The official OMIM website is http://www.ncbi.nlm.nih.gov/omim/

Today, the catalog is distributed over the Internet by the National Center for Biotechnology Information (NCBI).