GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: MIR17HG

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Microdeletions of 13q31.3 in 2 families. Third case with overlapping clinical features. No case with variants in gene or deletion that only includes this gene.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 2, 614326

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
NHS GMS

Phenotypes

Feingold syndrome 2, 614326

OMIM

609415

Clinvar variants

Variants in MIR17HG

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: MIR17HG was added gene: MIR17HG was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIR17HG were set to Feingold syndrome 2, 614326

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: MIR17HG