Glaucoma (developmental)
Gene: SH3PXD2B
Glaucoma is part of the phenotype.
Sources: Expert listCreated: 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
FC - Human and mouse biallelic mutations lead to a phenotype that includes macrocornea, which is part of the anterior segment dysgenesis spectrumCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome; 249420
Publications
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 spectrumCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome; 249420
Publications
Gene: sh3pxd2b has been classified as Green List (High Evidence).
Publications for gene: SH3PXD2B were set to
Phenotypes for gene: SH3PXD2B were changed from Frank-ter Haar syndrome, MIM# 249420 to Frank-ter Haar syndrome, OMIM:249420
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