Skeletal dysplasia
Gene: RMRPEnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models
Homozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function.
*Founder variant g.70A>G (Amish and Finnish populations)
CHH 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: 26 Aug 2021, 6:37 a.m. | Last Modified: 26 Aug 2021, 6:43 a.m.
Panel Version: 0.8956
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cartilage hair hypoplasia (CHH) MIM#250250; Anauxetic dysplasia 1, MIM# 607095; Metaphyseal dysplasia without hypotrichosis, MIM# 250460
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Anauxetic dysplasia 607095
- Cartilage-hair hypoplasia 250250
- Metaphyseal dysplasia without hypotrichosis 250460
- OMIM
- 157660
- Clinvar variants
- Variants in RMRP
- Penetrance
- None
- Panels with this gene
-
- Ectodermal Dysplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Metaphyseal dysplasias
- Hair disorders
- Prepair 1000+
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Prepair 500+
History Filter Activity
Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Added New Source, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Source Victorian Clinical Genetics Services was added to RMRP. Added phenotypes Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095 for gene: RMRP
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 Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250