RMRP:Ensemblv115

RNA component of mitochondrial RNA processing endoribonuclease
OMIM: 157660, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green RMRP in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Genetic Health Queensland Genomics England PanelApp Expert Review Green Phenotypes Anauxetic dysplasia 1, MIM#607095 Tags non-coding gene
Green RMRP in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Cartilage-hair hypoplasia, MIM# 250250 Tags non-coding gene
Green RMRP in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Cartilage hair hypoplasia (CHH) MIM#250250 shortened limbs short stature metaphysical dysplasia fine, sparse and/or light-coloured hair hematologic abnormalities CID impaired lymphocyte proliferation low Ig levels antibodies variably decreased bone marrow failure autoimmunity susceptibility to lymphoma and other cancers impaired spermatogenesis neuronal dysplasia of the intestine Tags non-coding gene
Green RMRP in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Expert list Expert Review Green Phenotypes Anauxetic dysplasia 607095 Cartilage-hair hypoplasia 250250 Metaphyseal dysplasia without hypotrichosis 250460 Tags non-coding gene
Green RMRP in Ectodermal Dysplasia Level 2: Dermatological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert list Expert Review Green Phenotypes Cartilage hair hypoplasia (CHH) MIM#250250 Anauxetic dysplasia 1, MIM# 607095 Metaphyseal dysplasia without hypotrichosis, MIM# 250460 Tags non-coding gene
Green RMRP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Cartilage-hair hypoplasia, 250250 (3)
Green RMRP in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Metaphyseal dysplasia without hypotrichosis 250460 Cartilage-hair hypoplasia 250250 Anauxetic dysplasia 607095 Tags non-coding gene
Green RMRP in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Cartilage-hair hypoplasia, 250250 (3) Tags non-coding gene
Green RMRP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cartilage-hair hypoplasia MIM#250250 Tags for review treatable immunological non-coding gene
Green RMRP in Prepair 500+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Cartilage-hair hypoplasia MIM#250250 Anauxetic dysplasia 1, MIM#607095 Metaphyseal dysplasia without hypotrichosis MIM#250460