Thoracic dystrophies

Gene: TBC1D32

Red List (low evidence)

TBC1D32 (TBC1 domain family member 32)
EnsemblGeneIds (GRCh38): ENSG00000146350
EnsemblGeneIds (GRCh37): ENSG00000146350
OMIM: 615867, Gene2Phenotype
TBC1D32 is in 7 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 24285566 - single case reported.
Created: 31 May 2017, 8:42 a.m.

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

Red List (low evidence)

Phenotypes
OFD

Hannah Mitchison (UCL and GOSH)

Red List (low evidence)

Phenotypes
OFD

History Filter Activity

31 May 2017, Gel status: 0

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: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TBC1D32 were set to 24285566

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)

TBC1D32 was added to Thoracic dystrophiespanel. Sources: Expert Review

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

TBC1D32 was created by hmitchis