Muscular dystrophy and myopathy_Paediatric

Gene: HRAS

Amber List (moderate evidence)

HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

A variant of Costello Syndrome which is typically characterised by diffuse hypotonia, short stature, developmental delay etc.

Age of onset - birth to early childhood

Most of the mutations related to CMEMS are inherited in an Autosomal Dominant manner, some can be caused by Somatic mutations as well.

PMID: 17412879
4 unrelated individuals identified with a mutation in HRAS and clinical features causative of congenital myopathy with excess of muscle spindles (CMEMS). No functional evidence or animal model study conducted yet
Sources: Other
Created: 8 May 2023, 6:19 a.m.

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

Phenotypes
Congenital myopathy with excess of muscle spindles (MIM#218040)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Hypotonia is a common feature of Costello syndrome, note reports of abnormal skeletal muscle biopsies in several reported individuals, however, always in conjunction with other phenotypic features of Costello syndrome
Created: 10 Jun 2020, 1:19 a.m. | Last Modified: 10 Jun 2020, 1:22 a.m.
Panel Version: 0.132

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Costello syndrome, MIM# 218040; Congenital myopathy with excess of muscle spindles 218040

Publications

History Filter Activity

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hras has been classified as Amber List (Moderate Evidence).

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hras has been classified as Amber List (Moderate Evidence).

8 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: HRAS was added gene: HRAS was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17412879 Phenotypes for gene: HRAS were set to Congenital myopathy with excess of muscle spindles (MIM#218040) Review for gene: HRAS was set to AMBER