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Limb disorders

Gene: TFAP2B

Green List (high evidence)

TFAP2B (transcription factor AP-2 beta)
EnsemblGeneIds (GRCh38): ENSG00000008196
EnsemblGeneIds (GRCh37): ENSG00000008196
OMIM: 601601, Gene2Phenotype
TFAP2B is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Char syndrome, which includes hand anomalies. Although not all patients display a hand phenotype, there's sufficient cases for inclusion on the limb panel.
Created: 16 Oct 2018, 2:05 p.m.
Confirmed DD-G2P gene for Char syndrome (MIM:169100). Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies including aplasia or hypoplasia of the middle phalanges of the fifth fingers or fifth finger clinodactyly. However, hand anomalies are not reported in all patients. Variants in TFAP2B can also cause PDA without facial dysmorphism or hand anomalies (MIM:617035).
Created: 16 Oct 2018, 12:40 p.m.
In a large 3-generation family segregating autosomal dominant Char syndrome (CHAR; 169100), Mani et al. (2005, 15684060) identified heterozygosity for a G-to-A transition at position +5 of the splice donor site of intron 3, a highly conserved nucleotide in the TFAP2B gene. Of the 22 affected members, all had clinodactyly. Chen et al (PMID:21643846) report the same variant in a Chinese family, but none of the affected individuals in the Chinese family exhibited the craniofacial or fifth-finger anomalies of Char syndrome.
Created: 16 Oct 2018, 12:22 p.m.
Zhao et al. (2001, PMID:11505339) studied 8 patients with Char syndrome and identified 4 novel variants in TFAP2B. Not all the patients showed hand anomalies. Patients who do have hand anomalies are: A Palestinian boy with clinodactyly harboured a heterozygous C-to-T transition at nucleotide 673 (R225C) in TFAP2B. Zhao also found a heterozygous C-to-A transversion at nucleotide 673 in the TFAP2B gene (p.R225S) in an English family described previously by Sweeney et al (PMID:10955477) with hand anomalies but no cardiovascular anomalies.
Created: 16 Oct 2018, 12:22 p.m.

Details

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

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Zhao et al. (2001, PMID:115053

16 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

16 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

16 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TFAP2B were set to 15684060; 11505339

16 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TFAP2B were changed from Polydactyly to Polydactyly; Clinodactyly; Char syndrome, 169100

16 Oct 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TFAP2B were set to

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TFAP2B was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TFAP2B was created by Ellen McDonagh