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  3. SBF2
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Glaucoma congenital

Gene: SBF2

Green List (high evidence)
SBF2 (SET binding factor 2)
EnsemblGeneIds (GRCh38): ENSG00000133812
EnsemblGeneIds (GRCh37): ENSG00000133812
OMIM: 607697, Gene2Phenotype
SBF2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glaucoma associated with truncating/nonsense variants, and can precede neuropathy.
Created: 2 Aug 2020, 9:08 a.m. | Last Modified: 2 Aug 2020, 9:08 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B2, MIM# 604563

Publications

Created: 2 Aug 2020, 9:08 a.m.
Last Modified: 2 Aug 2020, 9:08 a.m.
Panel version: 0.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B2, MIM# 604563
OMIM
607697
Clinvar variants
Variants in SBF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sbf2 has been classified as Green List (High Evidence).

2 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SBF2 were changed from to Charcot-Marie-Tooth disease, type 4B2, MIM# 604563

2 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SBF2 were set to

2 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SBF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SBF2 was added gene: SBF2 was added to Glaucoma congenital_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SBF2 was set to Unknown