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  3. GRHL2
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Additional findings_Paediatric

Gene: GRHL2

Green List (high evidence)
GRHL2 (grainyhead like transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000083307
EnsemblGeneIds (GRCh37): ENSG00000083307
OMIM: 608576, Gene2Phenotype
GRHL2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Now DEFINITIVE by ClinGen.
Created: 27 Nov 2020, 8:04 a.m. | Last Modified: 27 Nov 2020, 8:04 a.m.
Panel Version: 0.165

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant hearing loss, MIM# 608641

Created: 27 Nov 2020, 8:04 a.m.
Last Modified: 27 Nov 2020, 8:04 a.m.
Panel version: 0.165

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Was classified as limited gene disease association by Babyseq but has since been classified as definitive gene disease association by ClinGen hearing loss expert panel for AD isolated deafness. Earliest age of onset is 7years.
Created: 27 Nov 2020, 3:50 a.m. | Last Modified: 27 Nov 2020, 3:50 a.m.
Panel Version: 0.163

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant hearing loss, MIM# 608641

Created: 27 Nov 2020, 3:50 a.m.
Last Modified: 27 Nov 2020, 3:50 a.m.
Panel version: 0.163

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Autosomal dominant hearing loss, MIM# 608641
OMIM
608576
Clinvar variants
Variants in GRHL2
Penetrance
None
Panels with this gene

History Filter Activity

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grhl2 has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRHL2 were changed from Hearing loss to Autosomal dominant hearing loss, MIM# 608641

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grhl2 has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRHL2 was added gene: GRHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GRHL2 were set to Hearing loss