Glaucoma (developmental)
Gene: LMX1B
Glaucoma is a key feature of this condition.
Sources: Expert listCreated: 2 Aug 2020, 8:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome, MIM# 161200
RHCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome; 161200
Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 16 Apr 2021, 2:09 p.m. | Last Modified: 16 Apr 2021, 2:09 p.m.
Panel Version: 1.33
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
Gene: lmx1b has been classified as Green List (High Evidence).
Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, MIM# 161200 to Nail-patella syndrome, OMIM:161200
gene: LMX1B was added gene: LMX1B was added to Glaucoma (developmental). Sources: Expert list 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, MIM# 161200 Review for gene: LMX1B was set to GREEN