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Clefting disorders
Gene: GRHL3

GRHL3 (grainyhead like transcription factor 3)
EnsemblGeneIds (GRCh38): ENSG00000158055
EnsemblGeneIds (GRCh37): ENSG00000158055
OMIM: 608317, Gene2Phenotype
GRHL3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:24360809; 8 families with fs or missense variants. 2x de novo + 4x familial

It's noted that Arg298His has 5 hets in gnomAD. Proband's inheritance reported as unknown

PMID:29500247 2 families with Arg391Cys
Created: 30 Nov 2021, 2:38 a.m. | Last Modified: 30 Nov 2021, 2:38 a.m.

Panel Version: 0.151

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Van der Woude syndrome 2 MIM#606713

Publications

Created: 30 Nov 2021, 2:38 a.m.
Last Modified: 30 Nov 2021, 2:38 a.m.
Panel version: 0.151

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Van der Woude syndrome 2 MIM#606713

OMIM

Clinvar variants

Variants in GRHL3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grhl3 has been classified as Green List (High Evidence).

30 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRHL3 were changed from Cleft lip; VAN DER WOUDE SYNDROME 2 to Van der Woude syndrome 2 MIM#606713

30 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRHL3 were set to

30 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GRHL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRHL3 was added gene: GRHL3 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRHL3 were set to Cleft lip; VAN DER WOUDE SYNDROME 2