GRHL2

grainyhead like transcription factor 2
OMIM: 608576, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GRHL2 in Corneal Dystrophy Level 2: Ophthalmological disorders Version 1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Tags deep intronic
Green GRHL2 in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029 Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Deafness, autosomal dominant 28, MIM# 608641
Green GRHL2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 28, MIM# 608641
Green GRHL2 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.102	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029
Green GRHL2 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.82	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 28, MIM# 608641
Green GRHL2 in Additional findings_Paediatric Level 2: Screening Version 0.278	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category C gene Phenotypes Autosomal dominant hearing loss, MIM# 608641
Red GRHL2 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.10	1 review	Unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Fibrosis of extraocular muscles, congenital Tags SV/CNV
Amber GRHL2 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029
Red GRHL2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029 Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Deafness, autosomal dominant 28, MIM# 608641