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  3. SH3PXD2B
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Glaucoma (developmental)

Gene: SH3PXD2B

Green List (high evidence)
SH3PXD2B (SH3 and PX domains 2B)
EnsemblGeneIds (GRCh38): ENSG00000174705
EnsemblGeneIds (GRCh37): ENSG00000174705
OMIM: 613293, Gene2Phenotype
SH3PXD2B is in 9 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Glaucoma is part of the phenotype.
Sources: Expert list
Created: 2 Aug 2020, 9:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome, MIM# 249420

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Aug 2020, 9:14 a.m.

Panel version: 1.8

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

FC - Human and mouse biallelic mutations lead to a phenotype that includes macrocornea, which is part of the anterior segment dysgenesis spectrum
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome; 249420

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is also Green on Structural eye disease (Version 1.63). Macrocornea could present with or without glaucoma. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Created: 16 Apr 2021, 2:05 p.m. | Last Modified: 16 Apr 2021, 2:05 p.m.
Panel Version: 1.30
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - Human and mouse biallelic mutations lead to a phenotype that includes macrocornea, which is part of the anterior segment dysgenesis spectrum
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome; 249420

Publications

Created: 17 Apr 2019, 3:31 p.m.

Panel version: Imported from Structural eye disease panel version 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Frank-ter Haar syndrome, OMIM:249420
OMIM
613293
Clinvar variants
Variants in SH3PXD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sh3pxd2b has been classified as Green List (High Evidence).

16 Apr 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SH3PXD2B were set to

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

2 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SH3PXD2B was added gene: SH3PXD2B was added to Glaucoma (developmental). Sources: Expert list Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, MIM# 249420 Review for gene: SH3PXD2B was set to GREEN