Craniosynostosis

Gene: TFAP2B

Green List (high evidence)

TFAP2B (transcription factor AP-2 beta)
EnsemblGeneIds (GRCh38): ENSG00000008196
EnsemblGeneIds (GRCh37): ENSG00000008196
OMIM: 601601, Gene2Phenotype
TFAP2B is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from red to green as 4 cases have been reported.
Created: 17 Sep 2019, 12:06 p.m. | Last Modified: 17 Sep 2019, 12:06 p.m.
Panel Version: 1.133
4 cases reported
There are 4 cases reported in PMID: 31292255 (Correction in PMID: 31405973) 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent.
Created: 17 Sep 2019, 12:05 p.m. | Last Modified: 17 Sep 2019, 12:05 p.m.
Panel Version: 1.130
Review from Helen Lord (Oxford University Hospitals NHS Trust):
Paper by Timberlake et al, 2019, PNAS, 116 (34) 17130 (PMID 31405973): 12 probands with syndromic craniosynostosis. Exome sequencing identified 4/12 TFAP2B variants – 3 of the patients had metopic synostosis and 1 had sagittal synostosis. 2 de novo (splicing and missense) and 2 rare transmitted LOF variants (nonsense variant (transmitted from an affected parent- looks like untreated metopic synostosis) and one affecting the initiating Met (transmitted from an unaffected parent)).

They comment that heterozygous damaging variants have been implicated in CHAR syndrome, and abnormal head shapes and ridging over the cranial sutures have been reported in several patients.
Created: 17 Sep 2019, noon | Last Modified: 17 Sep 2019, noon
Panel Version: 1.130
Gene suggested for inclusion by Helen Lord.
Sources: Expert Review
Created: 17 Sep 2019, 11:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Char syndrome 169100
OMIM
601601
Clinvar variants
Variants in TFAP2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tfap2b has been classified as Green List (High Evidence).

17 Sep 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TFAP2B were changed from to Char syndrome 169100

17 Sep 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TFAP2B were set to 31405973

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Eleanor Williams (Genomics England Curator)

gene: TFAP2B was added gene: TFAP2B was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TFAP2B were set to 31405973