Genomics England

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CARTILAGE-HAIR HYPOPLASIA 250250
Green in Ectodermal dysplasia R-numbers: R163 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cartilage-hair hypoplasia 250250
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CARTILAGE-HAIR HYPOPLASIA
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: miscellaneous, Cartilage-hair hypoplasia syndrome, Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	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
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cartilage-hair hypoplasia 250250, Anauxetic dysplasia 607095, Metaphyseal dysplasia without hypotrichosis 250460