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Prepair 1000+

Gene: SH3PXD2B

Green List (high evidence)

SH3PXD2B (SH3 and PX domains 2B)
EnsemblGeneIds (GRCh38): ENSG00000174705
EnsemblGeneIds (GRCh37): ENSG00000174705
OMIM: 613293, Gene2Phenotype
SH3PXD2B is in 6 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene condition association. Previously known as Borrone syndrome. Severe, progressive, and affects multiple systems.
Created: 7 Feb 2025, 1:36 a.m. | Last Modified: 7 Feb 2025, 1:36 a.m.
Panel Version: 1.1460

Phenotypes
Frank-ter Haar syndrome, 249420 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Frank-ter Haar syndrome, MIM#249420
OMIM
613293
Clinvar variants
Variants in SH3PXD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, 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).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SH3PXD2B were changed from Frank-ter Haar syndrome, 249420 (3) to Frank-ter Haar syndrome, MIM#249420

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SH3PXD2B were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SH3PXD2B was added gene: SH3PXD2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)