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Limb disorders v0.234 TFAP2B Rebecca Foulger Marked gene: TFAP2B as ready
Limb disorders v0.234 TFAP2B Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence).
Limb disorders v0.234 TFAP2B Rebecca Foulger Classified gene: TFAP2B as Green List (high evidence)
Limb disorders v0.234 TFAP2B Rebecca Foulger Added comment: 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.
Limb disorders v0.234 TFAP2B Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence).
Limb disorders v0.233 TFAP2B Rebecca Foulger commented on gene: TFAP2B: 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).
Limb disorders v0.233 TFAP2B Rebecca Foulger Publications for gene: TFAP2B were set to 15684060; 11505339
Limb disorders v0.232 TFAP2B Rebecca Foulger commented on gene: TFAP2B: 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.
Limb disorders v0.232 TFAP2B Rebecca Foulger commented on gene: TFAP2B
Limb disorders v0.232 TFAP2B Rebecca Foulger Phenotypes for gene: TFAP2B were changed from Polydactyly to Polydactyly; Clinodactyly; Char syndrome, 169100
Limb disorders v0.231 TFAP2B Rebecca Foulger Mode of inheritance for gene: TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.230 TFAP2B Rebecca Foulger Publications for gene: TFAP2B were set to
Limb disorders TFAP2B Ellen McDonagh Added gene to panel