Congenital ophthalmoplegia
Gene: GRHL2
GRHL2 (grainyhead like transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000083307
EnsemblGeneIds (GRCh37): ENSG00000083307
OMIM: 608576, Gene2Phenotype
GRHL2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000083307
EnsemblGeneIds (GRCh37): ENSG00000083307
OMIM: 608576, Gene2Phenotype
GRHL2 is in 9 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
A single paper describes two unrelated Saudi children with CFEOM and a 3.17Kb deletion involving GRHL2 (no other OMIM-morbid genes in the deletion, and no mutations in SALL4, CHN1, HOXA1, and TUBB3 genes; and exons 8, 20, and 21 of the KIF21A gene in these patients). The deletion was not present in the unaffected parents.Created: 2 Nov 2020, 11:57 a.m. | Last Modified: 2 Nov 2020, 11:57 a.m.
Panel Version: 0.8
Phenotypes
Deafness, autosomal dominant 28, Corneal dystrophy, posterior polymorphous, 4
Publications
- PMID: 29110737
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Fibrosis of extraocular muscles, congenital
- Tags
- OMIM
- 608576
- Clinvar variants
- Variants in GRHL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Nov 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grhl2 has been classified as Red List (Low Evidence).
2 Nov 2020, Gel status: 1
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: GRHL2.
7 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GRHL2 was added gene: GRHL2 was added to Congenital fibrosis of the extraocular muscles. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: GRHL2 was set to Unknown Publications for gene: GRHL2 were set to 29110737 Phenotypes for gene: GRHL2 were set to Fibrosis of extraocular muscles, congenital