Structural eye disease
Gene: LMX1B
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
RHCreated: 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
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). RHCreated: 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
Tag Q2_21_rating was removed from gene: LMX1B.
Source Expert Review Green was added to LMX1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, 161200 to Nail-patella syndrome, OMIM:161200
Tag Q2_21_rating tag was added to gene: LMX1B.
gene: LMX1B was added gene: LMX1B was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200