Arthrogryposis
Gene: DNM2The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:18 p.m. | Last Modified: 3 Aug 2022, 3:18 p.m.
Panel Version: 3.161
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:29 a.m. | Last Modified: 9 Mar 2022, 11:29 a.m.
Panel Version: 3.152
Comment on list classification: Made green after internal discussionCreated: 16 Jan 2017, 12:01 p.m.
Comment on list classification: Moderate evidence for arthrogryposisCreated: 22 Dec 2016, 9:21 a.m.
Lethal congenital contracture syndrome -mutations only identified in three siblings although supported by animal modelsCreated: 22 Dec 2016, 9:21 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 5 615368
Publications
Mode of inheritance for gene DNM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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.
Mode of inheritance for DNM2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for DNM2 were set to 23092955
Phenotypes for DNM2 were set to Lethal congenital contracture syndrome 5 615368
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
DNM2 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services DNM2 was added to Arthrogryposispanel. Source: UKGTN DNM2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DNM2 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DNM2 was added to Arthrogryposispanel. Sources: Expert list
DNM2 was created by ellenmcdonagh