1. Panels
  2. Cataract
  3. NF2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cataract

Gene: NF2

Green List (high evidence)
NF2 (neurofibromin 2)
EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 11 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Snippet fm ClinGen curation summary (https://search.clinicalgenome.org/kb/gene-validity/a185a859-a499-4c4a-bebe-996b16fb3cf3--2019-02-27T17:00:00)
NF2 is DEFINITIVELY associated with autosomal dominant Neurofibromatosis Type 2. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.

Cataract in the form of subcapsular lenticular opacities or cortical wedge cataract is a feature of this condition (https://www.ncbi.nlm.nih.gov/books/NBK1201/)
Created: 8 Jul 2020, 5:48 a.m. | Last Modified: 8 Jul 2020, 5:48 a.m.
Panel Version: 0.180

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 2 (MIM# 101000)

Created: 8 Jul 2020, 5:48 a.m.
Last Modified: 8 Jul 2020, 5:48 a.m.
Panel version: 0.180

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurofibromatosis, type 2 (MIM# 101000)
OMIM
607379
Clinvar variants
Variants in NF2
Penetrance
None
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nf2 has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2 (MIM# 101000)

8 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NF2 was added gene: NF2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NF2 was set to Unknown