RMRP

RNA component of mitochondrial RNA processing endoribonuclease
OMIM: 157660, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green RMRP in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green RMRP in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia, MIM# 250250
Green RMRP in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia MIM#250250
Green RMRP in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ribosomal biogenesis cartilage-hair hypoplasia MONDO:0009595
Green RMRP in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services 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
Amber RMRP in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Anauxetic dysplasia 1, MIM#607095
Green RMRP in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	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
Red RMRP in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Metaphyseal chondrodysplasia, McKusick type
Green RMRP in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
Green RMRP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cartilage-hair hypoplasia, 250250 (3)
Green RMRP in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal dysplasia without hypotrichosis 250460 Cartilage-hair hypoplasia 250250 Anauxetic dysplasia 607095
Green RMRP in Hair disorders Level 2: Dermatological disorders Version 0.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia MIM#250250
Green RMRP in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cartilage-hair hypoplasia
Green RMRP in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Anauxetic dysplasia 1, MIM#607095
Green RMRP in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cartilage-hair hypoplasia, 250250 (3)
Green RMRP in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Cartilage-hair hypoplasia MIM#250250 Tags for review treatable immunological
Green RMRP in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cartilage-hair hypoplasia, 250250 (3)