SETD5

SET domain containing 5
OMIM: 615743, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber SETD5 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.59 Latest signed off version: v2.2 (2 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moyamoya disease MONDO:0016820 Mental retardation, autosomal dominant 23 OMIM:615761 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336 Tags watchlist Q2_21_expert_review
Green SETD5 in Autism Version 0.22	review	Not set	Sources Expert Review Green SFARI Phenotypes ADHD, DD/NDD, ASD
Green SETD5 in Fetal anomalies Version 1.880 Latest signed off version: v1.92 (21 Aug 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Green SETD5 in DDG2P Version 2.76 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761
Amber SETD5 in Growth failure in early childhood Version 1.109 Latest signed off version: v1.4 (3 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Mental retardation, autosomal dominant 23, OMIM:615761 growth retardation bone fragility Tags Q4_21_expert_review Q4_21_phenotype
Green SETD5 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.558 Latest signed off version: v2.2 (13 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Phenotypes Mental retardation, autosomal dominant 23, 615761
Green SETD5 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1651 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Green SETD5 in Severe Paediatric Disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mental retardation, autosomal dominant 23, 615761