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  3. YAP1
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Structural eye disease

Gene: YAP1

Green List (high evidence)
YAP1 (Yes associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000137693
EnsemblGeneIds (GRCh37): ENSG00000137693
OMIM: 606608, Gene2Phenotype
YAP1 is in 7 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Four families reported, incomplete penetrance reported
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
isolated ocular coloboma; Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Four families reported, incomplete penetrance reported
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
isolated ocular coloboma; Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coloboma, ocular, 120433
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
  • isolated ocular coloboma
OMIM
606608
Clinvar variants
Variants in YAP1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to YAP1. Mode of pathogenicity for gene YAP1 was changed from to Other - please provide details in the comments Added phenotypes Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; isolated ocular coloboma for gene: YAP1 Publications for gene YAP1 were changed from 24462371; 27267789; 26209646 to 24462371; 27267789; 28801591

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: YAP1 was added gene: YAP1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: YAP1 were set to 24462371; 27267789; 26209646 Phenotypes for gene: YAP1 were set to isolated ocular coloboma; Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433