Skeletal Dysplasia_Fetal
Gene: RMRP

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

Created: 9 Dec 2019, 7:30 p.m.
Last Modified: 28 Feb 2022, 11:28 p.m.
Panel version: Imported from Fetal anomalies panel version 0.4450

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

157660

Clinvar variants

Variants in RMRP

Penetrance

None

Panels with this gene

History Filter Activity

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

Skeletal Dysplasia_Fetal Gene: RMRP