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  3. RMRP
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Bone Marrow Failure

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, hypoplastic anaemia is a recognised feature.

Note gene is associated with other phenotypes which do not have BM involvement.
Created: 18 Jun 2021, 8:20 a.m. | Last Modified: 18 Jun 2021, 8:20 a.m.
Panel Version: 0.285

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cartilage-hair hypoplasia, MIM# 250250

Created: 18 Jun 2021, 8:20 a.m.
Last Modified: 18 Jun 2021, 8:20 a.m.
Panel version: 0.285

History Filter Activity

18 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RMRP were changed from to Cartilage-hair hypoplasia, MIM# 250250

18 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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 Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RMRP was set to Unknown