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  3. OSTM1
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Defects of intrinsic and innate immunity

Gene: OSTM1

Green List (high evidence)
OSTM1 (osteopetrosis associated transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000081087
EnsemblGeneIds (GRCh37): ENSG00000081087
OMIM: 607649, Gene2Phenotype
OSTM1 is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases reported and a supporting null mouse model. The condition is caused by osteoclast impairment.
Sources: Expert list
Created: 19 Mar 2021, 1:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 5 MIM#259720

Publications

Created: 19 Mar 2021, 1:46 a.m.

Panel version: 0.50

History Filter Activity

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ostm1 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ostm1 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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