RMRP

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green RMRP in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Anauxetic dysplasia 1, MIM#607095 Tags non-coding gene
Green RMRP in Bone Marrow Failure Level 2: Haematological disorders Version 1.129 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia, MIM# 250250 Tags non-coding gene
Green RMRP in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia MIM#250250 Tags non-coding gene
Green RMRP in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ribosomal biogenesis cartilage-hair hypoplasia MONDO:0009595 Tags non-coding gene
Green RMRP in Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 Tags non-coding gene
Amber RMRP in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Anauxetic dysplasia 1, MIM#607095 Tags non-coding gene
Green RMRP in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services 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 Tags non-coding gene
Green RMRP in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.102	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services 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 0.110	0 reviews	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	0 reviews	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 Tags non-coding gene
Green RMRP in Hair disorders Level 2: Dermatological disorders Version 0.81	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cartilage-hair hypoplasia MIM#250250 Tags non-coding gene
Green RMRP in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cartilage-hair hypoplasia
Green RMRP in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Anauxetic dysplasia 1, MIM#607095 Tags non-coding gene
Green RMRP in Prepair 1000+ Level 2: Screening Version 2.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cartilage-hair hypoplasia, 250250 (3) Tags non-coding gene
Green RMRP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Cartilage-hair hypoplasia MIM#250250 Tags for review treatable immunological non-coding gene
Green RMRP in Prepair 500+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cartilage-hair hypoplasia MIM#250250 Anauxetic dysplasia 1, MIM#607095 Metaphyseal dysplasia without hypotrichosis MIM#250460