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This Panel is marked as Internal

Newborns main panel
Gene: RMRP

RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 13 panels

1 review

Mafalda Gomes (Genomics England Curator)

This gene does not have a MANE transcript. The transcript that will be used is ENST00000363046.1 (equivalent to RefSeq NR_003051) as this is the only Ensembl transcript.
Created: 27 Jul 2023, 12:53 p.m. | Last Modified: 27 Jul 2023, 1:06 p.m.

Panel Version: 0.224

RMRP is a non-coding gene. RMRP encodes an untranslated RNA component of mitochondrial RNA processing endoribonuclease.
Created: 1 Jun 2023, 4:06 p.m. | Last Modified: 1 Jun 2023, 4:06 p.m.

Panel Version: 0.137

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

RMRP curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 27 Jul 2023, 1:06 p.m.
Panel version: 0.224

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Cartilege Hair Hypoplasia

Transcripts

ENST00000602361.1
NR_003051

OMIM

Clinvar variants

Variants in RMRP

Penetrance

None

Panels with this gene

History Filter Activity

26 Feb 2024, Gel status: 2

Set transcript

Ivone Leong (Genomics England Curator)

Transcript for gene RMRP was changed from ENST00000363046.1; NR_003051 to ENST00000602361.1; NR_003051

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RMRP. Added phenotypes Cartilege Hair Hypoplasia for gene: RMRP Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Jul 2023, Gel status: 3

Set transcript

Mafalda Gomes (Genomics England Curator)

Transcript for gene RMRP was changed from None to ENST00000363046.1; NR_003051

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RMRP. Added phenotypes Cartilege Hair Hypoplasia for gene: RMRP Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RMRP. Added phenotypes Cartilege Hair Hypoplasia for gene: RMRP Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RMRP. Added phenotypes Cartilege Hair Hypoplasia for gene: RMRP Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RMRP. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Cartilege Hair Hypoplasia for gene: RMRP

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RMRP was added gene: RMRP was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal