NSD2

nuclear receptor binding SET domain protein 2
OMIM: 602952, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green NSD2 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219
Red NSD2 in Laterality disorders and isomerism Version 3.10 Latest signed off version: v3.9 (1 May 2024)	review	Not set	Sources Expert Review Red NHS GMS Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219
Green NSD2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219
Green NSD2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219
Green NSD2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219