RMRP

RNA component of mitochondrial RNA processing endoribonuclease
OMIM: 157660
PanelMode of inheritanceDetails
7 panels
R-numbers: R91
Signed-off version 1.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cartilage-hair hypoplasia, 250250 Cartilage-hair hypoplasia, Severe congenital neutropenia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARTILAGE-HAIR HYPOPLASIA 250250
R-numbers: R163
Signed-off version 1.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cartilage-hair hypoplasia 250250
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARTILAGE-HAIR HYPOPLASIA
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: miscellaneous, Cartilage-hair hypoplasia syndrome, Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 1, 232220, Cartilage-hair hypoplasia, with or without immunodeficiency, Cartilage-hair hypoplasia, Omenn syndrome, Cartilage hair hypoplasia, Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine, Combined immunodeficiencies with associated or syndromic features
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cartilage-hair hypoplasia 250250, Anauxetic dysplasia 607095, Metaphyseal dysplasia without hypotrichosis 250460