Primary lymphoedemaGene: NSD1
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
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
Sotos syndrome 1 117550
Gene: nsd1 has been classified as Green List (High Evidence).
Gene: nsd1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 117550
Publications for gene: NSD1 were set to 9781911
Publications for gene: NSD1 were set to
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