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  2. Clefting
  3. ESRP2
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Clefting

Gene: ESRP2

Amber List (moderate evidence)
ESRP2 (epithelial splicing regulatory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000103067
EnsemblGeneIds (GRCh37): ENSG00000103067
OMIM: 612960, Gene2Phenotype
ESRP2 is in 1 panel

1 review

Catherine Snow (Genomics England)

I don't know

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. ESRP2 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Created: 22 Aug 2019, 4:18 p.m. | Last Modified: 22 Aug 2019, 4:18 p.m.
Panel Version: 1.48
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Created: 22 Aug 2019, 4:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
cleft lip

Publications

Created: 22 Aug 2019, 4:14 p.m.

Panel version: 1.48

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

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: esrp2 has been classified as Amber List (Moderate Evidence).

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: esrp2 has been classified as Amber List (Moderate Evidence).

22 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: ESRP2 was added gene: ESRP2 was added to Clefting. Sources: Expert list 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