Limb disorders
Gene: TFAP2BComment 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.
Rebecca Foulger: Zhao et al. (2001, PMID:115053
Gene: tfap2b has been classified as Green List (High Evidence).
Gene: tfap2b has been classified as Green List (High Evidence).
Publications for gene: TFAP2B were set to 15684060; 11505339
Phenotypes for gene: TFAP2B were changed from Polydactyly to Polydactyly; Clinodactyly; Char syndrome, 169100
Mode of inheritance for gene: TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TFAP2B were set to
TFAP2B was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
TFAP2B was created by Ellen McDonagh