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  3. OSTM1
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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 7 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 5 OMIM:259720
OMIM
607649
Clinvar variants
Variants in OSTM1
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: OSTM1 was added gene: OSTM1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 259720