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Severe Paediatric Disorders

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 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RMRP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Anauxetic dysplasia 1, 607095 (3) | Cartilage-hair hypoplasia, 250250 (3) | Metaphyseal dysplasia without hypotrichosis, 250460 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cartilage-hair hypoplasia, 250250
  • Anauxetic dysplasia 1, 607095
  • Metaphyseal dysplasia without hypotrichosis, 250460
OMIM
157660
Clinvar variants
Variants in RMRP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RMRP were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anauxetic dysplasia 1, 607095; Cartilage-hair hypoplasia, 250250; Metaphyseal dysplasia without hypotrichosis, 250460 for gene: RMRP

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to RMRP.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RMRP. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RMRP was added gene: RMRP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RMRP was set to