TFAP2B

transcription factor AP-2 beta
OMIM: 601601, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TFAP2B in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Char syndrome, MIM# 169100 Patent ductus arteriosus 2, MIM# 617035
Green TFAP2B in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Syndromic craniosynostosis
Green TFAP2B in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Char syndrome, MIM# 169100 Patent ductus arteriosus 2, MIM# 617035 Syndromic craniosynostosis
Green TFAP2B in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Red TFAP2B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Char syndrome, OMIM #169100 Patent ductus arteriosus 2, OMIM #617035
Green TFAP2B in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Char syndrome
Red TFAP2B in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Char syndrome, MIM# 169100
Green TFAP2B in Fetal anomalies Version 1.313	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Char syndrome, MIM# 169100 Syndromic craniosynostosis
Red TFAP2B in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Char syndrome, MIM 169100