present in Gene: LPIN2
present in Chromosome: 18
Position on Chromosome: 2922173
Alleles of this Variant: G/A
rs80338807 in
LPIN2 gene and
Majeed syndrome
PMID 15994876 2005 Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).