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  2. Congenital fibrosis of the extraocular muscles
  3. GRHL2
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Congenital fibrosis of the extraocular muscles

Gene: GRHL2

Red List (low 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)

Red List (low evidence)

3.17kb deletion encompassing GRHL2 identified in 1 patient with CFEOM. No further reports
Created: 21 Mar 2019, 10:12 a.m.

Mode of inheritance
Unknown

Phenotypes
Fibrosis of extraocular muscles, congenital

Publications

Created: 21 Mar 2019, 10:12 a.m.

Panel version: 0.8

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • congenital fibrosis of extraocular muscles, MONDO:0007614
OMIM
608576
Clinvar variants
Variants in GRHL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GRHL2 were changed from Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614

21 Mar 2019, Gel status: 1

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 Congenital fibrosis of the extraocular muscles. Sources: Wessex and West Midlands GLH,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