Primary lymphoedema
Gene: NSD1

NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 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

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

9781911

Created: 24 Jul 2019, 10:46 a.m.
Last Modified: 24 Jul 2019, 10:46 a.m.
Panel version: 1.88

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