Skeletal dysplasia
Gene: RMRP
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
Gene: rmrp has been classified as Green List (High Evidence).
Publications for gene: RMRP were set to
Tag non-coding gene tag was added to gene: RMRP.
Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
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
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