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  3. TMEM38B
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Osteogenesis imperfecta

Gene: TMEM38B

Green List (high evidence)
TMEM38B (transmembrane protein 38B)
EnsemblGeneIds (GRCh38): ENSG00000095209
EnsemblGeneIds (GRCh37): ENSG00000095209
OMIM: 611236, Gene2Phenotype
TMEM38B is in 3 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 4:14 p.m.

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TMEM38B; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.
Created: 3 Apr 2019, 4:08 p.m.

Panel version: 1.18

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
osteogenesis imperfecta

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

https://oi.gene.le.ac.uk/home.php?select_db=TMEM38B
Created: 8 Dec 2015, noon
Created: 8 Dec 2015, noon

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type XIV, OMIM:615066
  • Osteogenesis imperfecta type 14, MONDO:0014029
OMIM
611236
Clinvar variants
Variants in TMEM38B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TMEM38B were changed from Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TMEM38B. Rating Changed from Green List (high evidence) to Green List (high evidence)

16 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TMEM38B were set to Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta

16 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM38B were set to 23316006; 23054245

10 May 2016, Gel status: 4

Set Mode of Inheritance

Chris Boustred (Genomics England)

Mode of inheritance for TMEM38B was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM38B was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen

23 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM38B was added to Osteogenesis Imperfecta panel. Sources: Expert