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Limb disorders

Gene: TFAP2A

Amber List (moderate evidence)

TFAP2A (transcription factor AP-2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000137203
EnsemblGeneIds (GRCh37): ENSG00000137203
OMIM: 107580, Gene2Phenotype
TFAP2A is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Branchiooculofacial syndrome, 113620
  • Clinodactyly
  • Syndactyly
Tags
deletions watchlist
OMIM
107580
Clinvar variants
Variants in TFAP2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Comment on mode of inheritance

16 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tfap2a has been classified as Amber List (Moderate Evidence).

16 Oct 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TFAP2A.

16 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tfap2a has been classified as Amber List (Moderate Evidence).

16 Oct 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag deletions tag was added to gene: TFAP2A.

16 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TFAP2A were set to

16 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TFAP2A were changed from Polydactyly to Polydactyly; Branchiooculofacial syndrome, 113620; Clinodactyly; Syndactyly

16 Oct 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TFAP2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TFAP2A was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TFAP2A was created by Ellen McDonagh