Clefting
Gene: FOXP2
FOXP2 (forkhead box P2)
EnsemblGeneIds (GRCh38): ENSG00000128573
EnsemblGeneIds (GRCh37): ENSG00000128573
OMIM: 605317, Gene2Phenotype
FOXP2 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000128573
EnsemblGeneIds (GRCh37): ENSG00000128573
OMIM: 605317, Gene2Phenotype
FOXP2 is in 8 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Only two cases reported in the literature where clefting is a feature. Liégeois et al (2016) PMID: 27734906 - Submucous cleft palate was reported in one individual. PMID: 15326624 Tyson C et al (2004) -one case with bilateral cleft lip and palate.Created: 30 May 2017, 1:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Speech-language disorder-1, 602081
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Speech-language disorder-1, 602081
- OMIM
- 605317
- Clinvar variants
- Variants in FOXP2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
30 May 2017, Gel status: 2
Set publications
Louise Daugherty (Genomics England Curator)Publications for FOXP2 were set to 27734906; 15326624
30 May 2017, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)FOXP2 was added to Cleftingpanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
30 May 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)FOXP2 was created by LouiseD