Clefting disorders
Gene: ESRP2
ESRP2 (epithelial splicing regulatory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000103067
EnsemblGeneIds (GRCh37): ENSG00000103067
OMIM: 612960, Gene2Phenotype
ESRP2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000103067
EnsemblGeneIds (GRCh37): ENSG00000103067
OMIM: 612960, Gene2Phenotype
ESRP2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 29805042 Cox et al. Identified ESRP2 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr16:g.68266284C>T;p.Arg315) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant (chr16:g.68265234G>A;p.Arg520*) in another family.Created: 6 Feb 2021, 10:37 a.m. | Last Modified: 6 Feb 2021, 10:37 a.m.
Panel Version: 0.73
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft lip
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- cleft lip
- OMIM
- 612960
- Clinvar variants
- Variants in ESRP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Feb 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: esrp2 has been classified as Amber List (Moderate Evidence).
16 Sep 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ESRP2 was added gene: ESRP2 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ESRP2 were set to 29805042 Phenotypes for gene: ESRP2 were set to cleft lip