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Skeletal dysplasia

Gene: MIR17HG

Green List (high evidence)

MIR17HG (miR-17-92a-1 cluster host gene)
EnsemblGeneIds (GRCh38): ENSG00000215417
EnsemblGeneIds (GRCh37): ENSG00000215417
OMIM: 609415, Gene2Phenotype
MIR17HG is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 unrelated cases reported - 3 with gene deletions, 1 with SNV
Sources: Expert list
Created: 6 Dec 2019, 4:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 2; OMIM #614326

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • NHS GMS
  • Expert list
Phenotypes
  • FS2
  • Microcephaly-oculo-digito-esophageal-duodenal syndrome
  • Brachydactyly with short stature and microcephaly
  • Feingold syndrome 2, 614326
Tags
non-coding gene
OMIM
609415
Clinvar variants
Variants in MIR17HG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: MIR17HG.

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mir17hg has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mir17hg has been classified as Green List (High Evidence).

17 Dec 2019, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MIR17HG was added gene: MIR17HG was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR17HG were set to 26360630; 21892160; 25391829; 19344873 Phenotypes for gene: MIR17HG were set to FS2; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Brachydactyly with short stature and microcephaly; Feingold syndrome 2, 614326