Clefting disorders
Gene: TFAP2B
TFAP2B (transcription factor AP-2 beta)
EnsemblGeneIds (GRCh38): ENSG00000008196
EnsemblGeneIds (GRCh37): ENSG00000008196
OMIM: 601601, Gene2Phenotype
TFAP2B is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000008196
EnsemblGeneIds (GRCh37): ENSG00000008196
OMIM: 601601, Gene2Phenotype
TFAP2B is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Distinctive facial features include thick lips rather than cleft lip/palate.Created: 29 Jan 2021, 3:10 a.m. | Last Modified: 29 Jan 2021, 3:10 a.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Char syndrome, MIM# 169100
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Char syndrome, MIM# 169100
- OMIM
- 601601
- Clinvar variants
- Variants in TFAP2B
- Penetrance
- None
- Panels with this gene
History Filter Activity
29 Jan 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tfap2b has been classified as Red List (Low Evidence).
29 Jan 2021, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TFAP2B were changed from Cleft lip to Char syndrome, MIM# 169100
29 Jan 2021, Gel status: 1
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TFAP2B was added gene: TFAP2B was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: TFAP2B was set to Unknown Phenotypes for gene: TFAP2B were set to Cleft lip