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  2. Craniosynostosis
  3. TFAP2B
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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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant).
Sources: Expert list
Created: 3 Jul 2020, 5:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic craniosynostosis

Publications

Created: 3 Jul 2020, 5:55 a.m.

Panel version: 0.118

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Syndromic craniosynostosis
OMIM
601601
Clinvar variants
Variants in TFAP2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TFAP2B was added gene: TFAP2B was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TFAP2B were set to 31292255 Phenotypes for gene: TFAP2B were set to Syndromic craniosynostosis Review for gene: TFAP2B was set to GREEN