SETD2

SET domain containing 2
OMIM: 612778, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber SETD2 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.78	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome (MIM#616831)
Amber SETD2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 70, MIM#620157 Luscan-Lumish syndrome, MIM#61683 Rabin-Pappas syndrome, MIM#620155
Green SETD2 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome, MIM#616831
Green SETD2 in Mendeliome Version 1.2302	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome, MIM#616831 Rabin-Pappas syndrome,MIM# 620155 Intellectual developmental disorder, autosomal dominant 70, MIM# 620157
Green SETD2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Rabin-Pappas syndrome,MIM# 620155
Green SETD2 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome, MIM#616831
Green SETD2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Luscan-Lumish syndrome, MIM#616831 Rabin-Pappas syndrome,MIM# 620155 Intellectual developmental disorder, autosomal dominant 70, MIM# 620157
Green SETD2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list NHS GMS Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome 616831
Green SETD2 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Luscan-Lumish syndrome, MIM#616831