Childhood interstitial lung disease

Gene: NAF1

Green List (high evidence)

NAF1 (nuclear assembly factor 1 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145414
EnsemblGeneIds (GRCh37): ENSG00000145414
NAF1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

NAF1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620365) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
gene-checked
Clinvar variants
Variants in NAF1
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: NAF1.

30 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NAF1 was added gene: NAF1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NAF1 were set to 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