Primary lymphoedema

Gene: DCHS1

Amber List (moderate evidence)

DCHS1 (dachsous cadherin-related 1)
EnsemblGeneIds (GRCh38): ENSG00000166341
EnsemblGeneIds (GRCh37): ENSG00000166341
OMIM: 603057, Gene2Phenotype
DCHS1 is in 4 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Anna de Burca (Genomics England Curator)

Comment on publications: 3 homozygous variants in 3 unrelated consanguineous families with Van Maldergem syndrome. Lymphoedema is not a feature of Van Maldergem syndrome but Hennekam lymphoedema can be caused by mutations in FAT4 (the receptor for DHCS1) and this paper also reports variants in FAT4 in Van Maldergem syndrome. PMID: 24913602 states that there is considerable overlap in phenotype between the two conditions.
Created: 24 Sep 2018, 6:45 p.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber as agreed with Helen Brittain and Anna De Burca: Insufficient evidence for diagnostic grade but features on St. George's Primary Lymphedema Disorders gene panel. Note that Prof. Sahar Mansour (St. George's hospital) confirmed via email thread that they have not seen cases.
Created: 29 Sep 2018, 3:09 p.m.
Added DCHS1 to panel as requested by Athina Ververi at GOSH, because DCHS1 is on the St. George's lymphoedema 15-gene panel (September 2017). DCHS1 is a ligand for FAT4 (Green gene on this panel), and current evidence appears to be biochemical rather than variant case studies so kept rating as Red.
Sources: UKGTN
Created: 18 Sep 2018, 12:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van Maldergem syndrome 1, 601390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • UKGTN
Phenotypes
  • Van Maldergem syndrome 1, 601390
Tags
watchlist
OMIM
603057
Clinvar variants
Variants in DCHS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dchs1 has been classified as Amber List (Moderate Evidence).

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to DCHS1.

29 Sep 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: DCHS1.

29 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dchs1 has been classified as Amber List (Moderate Evidence).

24 Sep 2018, Gel status: 1

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: DCHS1 were set to

18 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DCHS1 was added gene: DCHS1 was added to Lymphatic Disorders. Sources: UKGTN Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390