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  2. Fetal anomalies
  3. ESRP2
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Fetal anomalies

Gene: ESRP2

Red List (low evidence)
ESRP2 (epithelial splicing regulatory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000103067
EnsemblGeneIds (GRCh37): ENSG00000103067
OMIM: 612960, Gene2Phenotype
ESRP2 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Vicki Harrison (Wessex Clinical Genetics Service)

Red List (low evidence)

Not on panelapp. Some evidence of being associated with non syndromic CL/P - Cox et al 2018 - 700 + people from various families, 2 cases with P/LP variants. Not something that would be appropriate for R21.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
orofacial cleft, MONDO:0000358

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • orofacial cleft, MONDO:0000358
OMIM
612960
Clinvar variants
Variants in ESRP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: ESRP2 was added gene: ESRP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ESRP2 were set to 39179789 Phenotypes for gene: ESRP2 were set to orofacial cleft, MONDO:0000358