gene2phenotype

For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

Panel: DD Gene: MMP21 Disease: MMP21-associated heterotaxy

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Gene
Disease
Gene-Disease Attributes
Publications
Phenotypes
Organ specificity

Gene: MMP21

Gene symbol: MMP21
OMIM MIM
Ensembl stable ID: ENSG00000154485
Synonyms

Location

Look up MMP21 in Decipher

Look up MMP21 in PanelApp

Disease: MMP21-associated heterotaxy

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Gene-Disease Attributes

Disease confidence: confirmed

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Allelic requirement: biallelic
Mutation consequence summary: loss of function

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Mutation consequence summary:

Publications

A human laterality disorder caused by a homozygous deleterious mutation in MMP21. (J Med Genet. 52: 840-847, 2015.)

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. (Nat Genet. 47: 1363-1369, 2015.)

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. (Nat Genet. 47: 1260-1263, 2015.)

Phenotypes

List of phenotypes that have been assigned to the G2P entry.

Dextrocardia

Situs inversus totalis