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Intellectual disability

Gene: YAP1

Red List (low evidence)

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

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION

Publications

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

PMID:24462371 (2014) report 2 families with AD-inherited coloboma, one with additional phenotypes including ID. ID is not a consistent feature of Coloboma though, and patients likely to be recruited through the 'Ocular coloboma' panel.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433
OMIM
606608
Clinvar variants
Variants in YAP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to YAP1.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

YAP1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

YAP1 was added to Intellectual disabilitypanel. Sources: Expert Review Red