SETD2

SET domain containing 2
OMIM: 612778, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SETD2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Luscan-Lumish syndrome 616831 Luscan-Lumish syndrome 616831
Green SETD2 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 2: Growth disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Luscan-Lumish syndrome, OMIM:616831
Green SETD2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green PAGE DD-Gene2Phenotype Phenotypes microcephaly profound intellectual disability congenital anomalies dysmorphic facial features
Green SETD2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SETD2-associated Overgrowth Syndrome
Green SETD2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Luscan-Lumish syndrome, 616831 intellectual disability Tags de novo