Corneal dystrophies

Gene: GRHL2

Green List (high evidence)

GRHL2 (grainyhead like transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000083307
EnsemblGeneIds (GRCh37): ENSG00000083307
OMIM: 608576, Gene2Phenotype
GRHL2 is in 6 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

PMID:29499165 - Three variants in the regulatory region of GRHL2 identified in 6 families. c.20+544G>T segregates in 19 affected over 4 generations and was identified in another 3 families in one case de novo. Two further intronic variants identified in two families c.20+257delT
Created: 1 Apr 2019, 2:30 p.m.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 4 618031
OMIM
608576
Clinvar variants
Variants in GRHL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GRHL2 was added gene: GRHL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRHL2 were set to 29499165 Phenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4 618031