Interstitial Lung Disease
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels
2 reviews
Suzanna Lindsey-Temple (Liverpool Hospital)
Agree with other reviewer's comments.Created: 6 Nov 2021, 6:28 a.m. | Last Modified: 6 Nov 2021, 6:28 a.m.
Panel Version: 0.183
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paediatric diffuse lung disease - rare.
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Diffuse interstitial lung disease and pulmonary hypertension are rare features of NF1.Created: 29 Oct 2021, 4:50 a.m. | Last Modified: 29 Oct 2021, 4:50 a.m.
Panel Version: 0.143
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1, MIM# 162200; Diffuse interstitial lung disease; Pulmonary hypertension
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neurofibromatosis, type 1, MIM# 162200
- Diffuse interstitial lung disease
- Pulmonary hypertension
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rasopathy
- Gastrointestinal Stromal Tumour
- Stroke
- Schwannoma
- Cardiomyopathy_Paediatric
- Breast Cancer
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Paraganglioma_phaeochromocytoma
- Facial papules
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Cerebral vascular malformations
- Callosome
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, MIM# 162200; Diffuse interstitial lung disease; Pulmonary hypertension
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NF1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NF1 was added gene: NF1 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NF1 was set to Unknown