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  3. TMEM107
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Thoracic dystrophies

Gene: TMEM107

Amber List (moderate evidence)
TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 2 cases reported with different variants (PMID:28289185, 24901346) and functional in vivo evidence.
Created: 31 May 2017, 9:05 a.m.
Comment on publications: The case reported in PMID: 24901346 is the same case investigated in PMID: 26518474.
Created: 31 May 2017, 9:05 a.m.
Created: 31 May 2017, 8:58 a.m.

Panel version: 0.123

Melita Irving (Guy's and St Thomas' NHS Trust)

Red List (low evidence)

Phenotypes
OFD

Created: 26 May 2017, 8:02 a.m.

Panel version: 0.35

Hannah Mitchison (UCL and GOSH)

Red List (low evidence)

Phenotypes
OFD

Created: 25 May 2017, 9:26 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Meckel-Gruber syndrome
  • Orofaciodigital syndrome
OMIM
616183
Clinvar variants
Variants in TMEM107
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

31 May 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TMEM107 was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM107 were set to 26595381; 26518474; 26123494; 28289185;24901346

31 May 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

31 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM107 were set to 26595381; 26518474; 26123494;28289185

31 May 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TMEM107 were set to Meckel-Gruber syndrome;Orofaciodigital syndrome

31 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM107 were set to 26595381; 26518474; 26123494

31 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM107 were set to 26595381;26518474

31 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM107 were set to 26595381

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

TMEM107 was added to Thoracic dystrophiespanel. Sources: Expert Review

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

TMEM107 was created by hmitchis