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Osteopetrosis

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: Imported from Defects of innate immunity panel version 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 5 MIM#259720
OMIM
607649
Clinvar variants
Variants in OSTM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 MIM#259720

29 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OSTM1 were set to

29 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OSTM1 was added gene: OSTM1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OSTM1 was set to Unknown