Glaucoma congenital
Gene: SH3PXD2B
SH3PXD2B (SH3 and PX domains 2B)
EnsemblGeneIds (GRCh38): ENSG00000174705
EnsemblGeneIds (GRCh37): ENSG00000174705
OMIM: 613293, Gene2Phenotype
SH3PXD2B is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000174705
EnsemblGeneIds (GRCh37): ENSG00000174705
OMIM: 613293, Gene2Phenotype
SH3PXD2B is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Glaucoma is part of the phenotype.Created: 2 Aug 2020, 9:12 a.m. | Last Modified: 2 Aug 2020, 9:12 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome, MIM# 249420
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Frank-ter Haar syndrome, MIM# 249420
- OMIM
- 613293
- Clinvar variants
- Variants in SH3PXD2B
- Penetrance
- None
- 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: sh3pxd2b 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: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420
2 Aug 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SH3PXD2B 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: SH3PXD2B was added gene: SH3PXD2B was added to Glaucoma congenital_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SH3PXD2B was set to Unknown