Arthrogryposis
Gene: LMNAComment on list classification: Kept rating of LMNA as Red based on advice from Zerin Hyder (Genomics England Clinical Team).Created: 26 Nov 2019, 1:42 p.m. | Last Modified: 26 Nov 2019, 1:42 p.m.
Panel Version: 2.57
Comment on list classification: Progressive contractures rather than arthrogryposisCreated: 4 Jan 2017, 12:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital Muscular Dystrophy, LMNA-related (Dominant); Emery-Dreifuss muscular dystrophy 2, AD, 181350
Gene: lmna has been classified as Red List (Low Evidence).
Publications for gene: LMNA were set to
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
LMNA was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services LMNA was added to Arthrogryposispanel. Source: UKGTN LMNA was added to Arthrogryposispanel. Source: Emory Genetics Laboratory LMNA was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen LMNA was added to Arthrogryposispanel. Source: Model of inheritance for gene LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LMNA was added to Arthrogryposispanel. Sources: Expert list
LMNA was created by ellenmcdonagh