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Intellectual disability syndromic and non-syndromic

Gene: YAP1

Amber List (moderate evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

2 large families
- 1 with 4 individuals with isolated bilateral ocular coloboma, and nonsense YAP1 mutation, segregated with disease.
- 1 with 13 individuals with syndromic ocular coloboma and nonsense YAP1 mutation, segregated with disease.
no functional evidence
Created: 12 Feb 2020, 4:11 a.m. | Last Modified: 12 Feb 2020, 4:11 a.m.
Panel Version: 0.2134

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

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

History Filter Activity

30 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: yap1 has been classified as Amber List (Moderate Evidence).

30 Oct 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: YAP1 were changed from to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM #120433

30 Oct 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: YAP1 were set to

30 Oct 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: YAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: yap1 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YAP1 was added gene: YAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: YAP1 was set to Unknown