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Fetal anomalies

Gene: MIR17HG

Amber List (moderate evidence)
MIR17HG (miR-17-92a-1 cluster host gene)
EnsemblGeneIds (GRCh38): ENSG00000215417
EnsemblGeneIds (GRCh37): ENSG00000215417
OMIM: 609415, Gene2Phenotype
MIR17HG is in 7 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sahar Mansour (St George's Hospital, London)

I don't know

All publications describe microdeletions of this gene causing feingold type 2. No reports of SNVs. All microdeletions should be detected by array CGH. Fetal structural malformations are part of the phenotype.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Feingold syndrome

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for FEINGOLD SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FEINGOLD SYNDROME
Tags
locus-type-rna-long-non-coding
OMIM
609415
Clinvar variants
Variants in MIR17HG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MIR17HG. Publications for gene: MIR17HG were updated from to 36588757; 30672094; 26360630; 33818875

15 Jul 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-long-non-coding tag was added to gene: MIR17HG.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MIR17HG was added gene: MIR17HG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME