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Fetal anomalies

Gene: GRHL2

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

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

BIALLELIC CASES:
PMID: 25152456 Petros et al., 2013
2 consanguineous Kuwaiti families with 6 total affected individuals with ectodermal dysplasia. Shared features: nail dystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpigmentation, short stature (≤25th percentile), and dysphagia. Patients in family ED-01 also presented with sensorineural deafness. ED-01 members were homozygous for GRHL2 c.1192T>C (p.Tyr398His), and ED-02 were homozygous for c.1445T>A (p.Ile482Lys).

PMID: 27612988 Walne et al., 2016
Report of 2 consanguineous families from Kuwait and Turkey.
Family 9: index patient homozygous for GRHL2 c.1445T>A p.Ile482Lys
Family 10: index patient homozygous for GRHL2 c.1213C>A p.Pro405Thr
Shared phenotype of the 2 probands: abnormal dentition, nail dystrophy, abnormal skin pigmentation, growth restriction (short stature). No mention of hearing loss.
Created: 22 May 2026, 10:42 a.m. | Last Modified: 22 May 2026, 10:42 a.m.
Panel Version: 7.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia/short stature syndrome, OMIM:616029

Publications

Created: 22 May 2026, 10:42 a.m.
Last Modified: 22 May 2026, 10:42 a.m.
Panel version: 7.8

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ectodermal dysplasia/short stature syndrome, OMIM:616029
Tags
Q2_26_promote_green
OMIM
608576
Clinvar variants
Variants in GRHL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: GRHL2 were changed from ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME to Ectodermal dysplasia/short stature syndrome, OMIM:616029

22 May 2026, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: GRHL2 were set to

22 May 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_26_promote_green tag was added to gene: GRHL2.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: GRHL2 was added gene: GRHL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME