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  2. Anophthalmia_Microphthalmia_Coloboma
  3. YAP1
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Anophthalmia_Microphthalmia_Coloboma

Gene: YAP1

Green List (high evidence)
YAP1 (Yes associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000137693
EnsemblGeneIds (GRCh37): ENSG00000137693
OMIM: 606608, Gene2Phenotype
YAP1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported; incomplete penetrance and variable expressivity.
Created: 4 Mar 2020, 12:13 a.m. | Last Modified: 4 Mar 2020, 12:13 a.m.
Panel Version: 0.48
Coloboma is part of the phenotype.
Sources: Expert list
Created: 24 Dec 2019, 12:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 24 Dec 2019, 12:19 a.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
OMIM
606608
Clinvar variants
Variants in YAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: YAP1 were set to

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: yap1 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: yap1 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YAP1 was added gene: YAP1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: YAP1 were set to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 Review for gene: YAP1 was set to GREEN