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Fetal anomalies

Gene: ESRP2

Amber List (moderate evidence)

ESRP2 (epithelial splicing regulatory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000103067
EnsemblGeneIds (GRCh37): ENSG00000103067
OMIM: 612960, Gene2Phenotype
ESRP2 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

No new publications since last PanelApp review Feb 2021

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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.
Sources: Literature
Created: 3 Feb 2022, 7:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleft lip

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft lip
OMIM
612960
Clinvar variants
Variants in ESRP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2022, 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).

4 Feb 2022, 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).

3 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ESRP2 was added gene: ESRP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ESRP2 were set to 29805042 Phenotypes for gene: ESRP2 were set to Cleft lip Review for gene: ESRP2 was set to AMBER