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Defects of innate immunity v0.51 OSTM1 Bryony Thompson Marked gene: OSTM1 as ready
Defects of innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.51 OSTM1 Bryony Thompson Classified gene: OSTM1 as Green List (high evidence)
Defects of innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.50 OSTM1 Bryony Thompson gene: OSTM1 was added
gene: OSTM1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTM1 were set to 12627228; 15108279; 16813530; 23772242; 32048120
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 MIM#259720
Review for gene: OSTM1 was set to GREEN
Added comment: >3 cases reported and a supporting null mouse model. The condition is caused by osteoclast impairment.
Sources: Expert list