1. Panels
  2. Fetal anomalies
  3. NF1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: NF1

Green List (high evidence)
NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Fetal anomalies include: congenital heart anomalies, macrocephaly, congenital neoplasia and plexiform neurofibromas
Created: 25 Feb 2022, 5:22 a.m. | Last Modified: 25 Feb 2022, 5:22 a.m.
Panel Version: 0.4249

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 1, MIM# 162200; Neurofibromatosis-Noonan syndrome, MIM# 601321

Created: 25 Feb 2022, 5:22 a.m.
Last Modified: 25 Feb 2022, 5:22 a.m.
Panel version: 0.4249

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 11 Sep 2020, 10:42 a.m. | Last Modified: 11 Sep 2020, 10:42 a.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 1, MIM# 162200; Neurofibromatosis-Noonan syndrome, MIM# 601321

Created: 11 Sep 2020, 10:42 a.m.
Last Modified: 11 Sep 2020, 10:42 a.m.
Panel version: Imported from Rasopathy panel version 0.57

History Filter Activity

25 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: nf1 has been classified as Green List (High Evidence).

25 Feb 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: NF1 were changed from FAMILIAL SPINAL NEUROFIBROMATOSIS; NEUROFIBROMATOSIS-NOONAN SYNDROME; WATSON SYNDROME; NEUROFIBROMATOSIS TYPE 1 to Neurofibromatosis, type 1, MIM# 162200; Neurofibromatosis-Noonan syndrome, MIM# 601321

25 Feb 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: NF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NF1 was added gene: NF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to FAMILIAL SPINAL NEUROFIBROMATOSIS; NEUROFIBROMATOSIS-NOONAN SYNDROME; WATSON SYNDROME; NEUROFIBROMATOSIS TYPE 1