Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: LMNA

Red List (low evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment 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

Alice Gardham (Genomics England)

Comment on list classification: Progressive contractures rather than arthrogryposis
Created: 4 Jan 2017, 12:06 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital Muscular Dystrophy, LMNA-related (Dominant); Emery-Dreifuss muscular dystrophy 2, AD, 181350

History Filter Activity

26 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: lmna has been classified as Red List (Low Evidence).

26 Nov 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: LMNA were set to

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

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.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LMNA was created by ellenmcdonagh