Mosaic skin disorders
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Segmental/mosaic forms well recognised.Created: 18 Feb 2021, 7:45 a.m. | Last Modified: 18 Feb 2021, 7:45 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis type I, MIM#162200
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- NHS GMS
- Phenotypes
-
- Neurofibromatosis type I, MIM#162200
- Tags
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: NF1.
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 Neurofibromatosis type I to Neurofibromatosis type I, MIM#162200
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NF1 was added gene: NF1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 14605872; 17668375 Phenotypes for gene: NF1 were set to Neurofibromatosis type I