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Prepair 1000+

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: A range of phenotypes from mild skeletal dysplasia to a severe (anauxetic dysplasia), there is not a clear genotype phenotype correlation, however loss of function variants are more often reported in the severe phenotypes
Created: 8 Aug 2024, 2:16 a.m. | Last Modified: 8 Aug 2024, 2:16 a.m.
Panel Version: 1.88

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Congenital onset.

Cartilage-hair hypoplasia individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.

Anauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.
Created: 30 Jul 2024, 7:18 a.m. | Last Modified: 30 Jul 2024, 7:18 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cartilage-hair hypoplasia MIM#250250; Anauxetic dysplasia 1, MIM#607095; Metaphyseal dysplasia without hypotrichosis MIM#250460

Publications

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: RMRP.

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

8 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: RMRP were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cartilage-hair hypoplasia, 250250 (3) for gene: RMRP

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RMRP was added gene: RMRP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)