Skeletal Dysplasia_Fetal

Gene: RMRP

Green List (high evidence)

RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Skeletal abnormalities; note gene is associated with two milder phenotypes, cartilage-hair hypoplasia and metaphyseal dysplasia without hypotrichosis, which are more subtle.
Created: 9 Dec 2019, 7:30 p.m. | Last Modified: 28 Feb 2022, 11:28 p.m.
Panel Version: 0.4450

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 1, MIM#607095

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Anauxetic dysplasia 1, MIM#607095
Tags
non-coding gene
OMIM
157660
Clinvar variants
Variants in RMRP
Penetrance
None
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Mar 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RMRP were changed from to Anauxetic dysplasia 1, MIM#607095

14 Mar 2025, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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: RMRP.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RMRP was added gene: RMRP was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RMRP was set to Unknown