1. Panels
  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. OSTM1
Genes in panel
Prev Next
STRs in panel
Prev Next

Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: OSTM1

Red List (low evidence)
OSTM1 (osteopetrosis associated transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000081087
EnsemblGeneIds (GRCh37): ENSG00000081087
OMIM: 607649, Gene2Phenotype
OSTM1 is in 7 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

An individual was reported with osteopetrosis, craniosynostosis, and Chiari malformation type 1 and two novel homozygous variants in OSTEM1. The first was a missense variant c.265T>A (p.Val122Asp), which was considered neutral. The second variant was a synonymous change (c.108C>T) but was predicted to create a new donor splice site and disrupt mRNA processing (PMID:23772242).
Created: 23 Jul 2023, 5:06 p.m. | Last Modified: 23 Jul 2023, 5:07 p.m.
Panel Version: 4.144

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 5, OMIM:259720; craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 5:06 p.m.
Last Modified: 23 Jul 2023, 5:07 p.m.
Panel version: 4.144

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Mahmoud Adel et al 2013 report a boy with CSS. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
AR osteopetrosis 5

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: OSTM1; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 5, OMIM:259720
  • craniosynostosis, MONDO:0015469
OMIM
607649
Clinvar variants
Variants in OSTM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: OSTM1 were changed from AR osteopetrosis 5 to Osteopetrosis, autosomal recessive 5, OMIM:259720; craniosynostosis, MONDO:0015469

23 Jul 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: OSTM1 were set to

23 Jul 2023, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes AR osteopetrosis 5 for gene: OSTM1

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: OSTM1 was added gene: OSTM1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: OSTM1 was set to