Structural eye disease

Gene: LMX1B

Green List (high evidence)

Ghoumid et al. 2016: 9/51 families with LMX1B variants and NPS have glaucoma. There are many other reports.

Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.

Panel Version: 1.101

RH

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nail-patella syndrome; Nail-patella syndrome 161200; 161200

Publications

• 25898926

Red List (low evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:54 a.m. | Last Modified: 8 Mar 2022, 10:54 a.m.

Panel Version: 1.115

Comment on list classification: Promoted from Red to Amber. This gene is Green on Glaucoma (developmental) (Version 1.33).

"Glaucoma is a key feature of this condition. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Created: 16 Apr 2021, 2:11 p.m. | Last Modified: 16 Apr 2021, 2:11 p.m.

Panel Version: 1.65

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nail-patella syndrome; 161200

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