Primary lymphoedema

Gene: NSD1

Green List (high evidence)

NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 10 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).
Created: 4 Sep 2019, 1:56 p.m. | Last Modified: 4 Sep 2019, 1:56 p.m.
Panel Version: 1.115

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: According to Prof Sahar Mansour (St Georges Hospital, London), lymphoedema has been reported in some cases of Sotos syndrome 1 117550.
Created: 23 Aug 2019, 5:42 p.m. | Last Modified: 23 Aug 2019, 5:42 p.m.
Panel Version: 1.111
Associated with congenital hypotonia/lymphedema or lymphedema nails relevant.
Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.
Panel Version: 1.88

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

Phenotypes
Sotos syndrome 1 117550

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sotos syndrome 1 117550
OMIM
606681
Clinvar variants
Variants in NSD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nsd1 has been classified as Green List (High Evidence).

23 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nsd1 has been classified as Amber List (Moderate Evidence).

23 Aug 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 117550

23 Aug 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NSD1 were set to 9781911

24 Jul 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NSD1 were set to

23 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: NSD1 was added gene: NSD1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown