How many genes are in OMIM?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype.
What are OMIM alleles?
OMIM is a compendium of human genes and genetic phenotypes.
What is the OMIM number for Li Fraumeni syndrome?
Phenotype-Gene Relationships
| Location | Phenotype | Phenotype MIM number |
|---|---|---|
| 17p13.1 | Li-Fraumeni syndrome | 151623 |
What is the OMIM gene identifier?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.
Who funds OMIM?
OMIM curation and updating is funded by a grant from the National Human Genome Research Institute (NHGRI) [1U41HG006627].
What kind of inheritance is Li-Fraumeni syndrome?
LFS follows an autosomal dominant inheritance pattern. That means that even if a mutation happens in only 1 of the 2 copies of the TP53 gene, that person will have LFS. When a person inherits a mutation from a parent, it is called a germline mutation.
How do you test for Li-Fraumeni syndrome?
If health care providers or genetic counselors suspect a person has Li-Fraumeni syndrome, diagnostic testing may take place:
- A blood sample is collected.
- DNA is isolated from the cells in the sample, and the TP53 gene is checked for possible mutations using a variety of methods such as DNA sequencing.
Is Noonan syndrome genetic?
Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there’s no family history involved.
Who supports OMIM?
NHGRI
Updated May 9, 2022 OMIM is supported by a grant from NHGRI, licensing fees, and generous contributions from people like you.
What does the ZNF469 gene do?
ZNF469 zinc finger protein 469 [ (human)] Summary. This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome.
What does the ZNF469 gene do in Brittle cornea syndrome?
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. We document a novel homozygous ZNF469 mutation in an adult with corneal fragility but lacking clinical evidence for extraocular manifestations.
Is ZnF 469 p873t associated with the pathogenesis of keratoconus?
ZNF469 has a pathogenic role in Chinese patients with keratoconus. New detected ZNF 469 P873T and Q2188H heterozygote coding variants in isolated advance keratoconus patients may be associated with the disease pathogenesis. Rare variants in ZNF469 do not contribute to keratoconus susceptibility and do not account for the association at rs9938149.