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Ectodermal dysplasia

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 13 panels

3 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Cartilage-hair hypoplasia syndrome

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:47 p.m.
Created: 6 Jan 2017, 4:47 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 1.5

Sarah Leigh (Genomics England Curator)

HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660.
Created: 30 Jul 2024, 2:35 p.m. | Last Modified: 30 Jul 2024, 2:35 p.m.
Panel Version: 3.29
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 10 Aug 2016, 12:21 p.m.
Comment on phenotypes: Variants also reported in Anauxetic dysplasia 607095 and Metaphyseal dysplasia without hypotrichosis 250460
Created: 10 Aug 2016, 12:20 p.m.
Created: 10 Aug 2016, 12:20 p.m.

Panel version: 3.29

History Filter Activity

30 Jul 2024, Gel status: 3

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-misc was removed from gene: RMRP. Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.

30 Jul 2024, Gel status: 3

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-long-non-coding was removed from gene: RMRP. Tag locus-type-rna-misc tag was added to gene: RMRP.

29 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RMRP was added gene: RMRP was added to Ectodermal dysplasia. Sources: 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