Limb disorders

Gene: TFAP2A

Comment when marking as ready: Amber rating while awaiting further dactyly cases.

Created: 16 Oct 2018, 10:59 a.m.

Added 'watchlist' tag while awaiting further cases.

Created: 16 Oct 2018, 10:59 a.m.

Comment on list classification: Updated rating from Red to Amber: Confirmed DD-G2P gene for Branchiooculofacial syndrome (MIM:113620) which can present with Polydactyly and Clinodactyly. Currently insufficient cases of dactyly phenotypes for diagnostic rating (PMIDs:20358615, 19685247).

Created: 16 Oct 2018, 10:58 a.m.

Added 'deletions' tag based on Syndactyly patients in PMID:19685247 with whole gene deletions.

Created: 16 Oct 2018, 10:54 a.m.

Gestri et al 2009 (PMID:19685247) analyzed the TFAP2A gene in 37 patients with developmental eye defects plus variable defects associated with BOFS. A 5 year old boy with 5th finger clinodactyly (amongst other phenotypes) had a 12bp deletion resulting in the deletion of 4 amino acids (Glu233 to Arg236) in TFAP2A. Whole gene deletion was seen in a further 3 patients which all presented with Syndactyly.

Created: 16 Oct 2018, 10:54 a.m.

1 BOFS patient was reported in Reiber et al 2010 (PMID:20358615) with severe Syndactyly and a c.806T>C (p.Leu269Pro) de novo missense variant in TFAP2A.

Created: 16 Oct 2018, 10:52 a.m.

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.

Created: 16 Oct 2018, 10:51 a.m.