Genomics England
GMS Panels
Panels
Genes and Entities

NAF1

nuclear assembly factor 1 ribonucleoprotein
PanelMode of inheritanceDetails
3 panels
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MONDO:0957261, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365
Green
in Haematological malignancies cancer susceptibility
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365, Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma
Green
in Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365, pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MONDO:0957261