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  3. TBC1D24
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Coarse facial features including Coffin-Siris-like disorders

Gene: TBC1D24

Red List (low evidence)
TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 6 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Causes DOOR which is a differential of Coffin Siris but not associated with coarse facial features
Created: 24 Nov 2016, 9:57 a.m.
Created: 24 Nov 2016, 9:57 a.m.

Panel version: 0.51

alisdair mcneill (Sheffield childrens hospital)

Red List (low evidence)

Created: 1 Jul 2016, 8:05 a.m.

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jun 2016, Gel status: 0

Created

alisdair mcneill (Sheffield childrens hospital)

TBC1D24 was created by [email protected]

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

TBC1D24 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list