TFAP2A

transcription factor AP-2 alpha
OMIM: 107580, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TFAP2A in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Bilateral Microtia Branchiooculofacial syndrome 113620 External and middle ear anomalies branchial cleft sinus defects ocular anomalies
Amber TFAP2A in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	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
Green TFAP2A in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Branchiooculofacial syndrome
Red TFAP2A in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Literature Phenotypes Branchiooculofacial syndrome , 113620
Green TFAP2A in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.181	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Branchiooculofacial syndrome, MIM# 113620
Green TFAP2A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOCULOFACIAL SYNDROME
Green TFAP2A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOCULOFACIAL SYNDROME 113620
Green TFAP2A in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes BRANCHIOOCULOFACIAL SYNDROME BOFS Cleft lip
Red TFAP2A in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Branchiooculofacial syndrome, 113620
Green TFAP2A in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Branchiooculofacial syndrome , 113620 Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620