SHANK3

SH3 and multiple ankyrin repeat domains 3
OMIM: 606230, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SHANK3 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green SHANK3 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.224	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Amber SHANK3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Phelan-McDermid syndrome, MIM# 606232
Green SHANK3 in Mendeliome Version 1.3499	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phelan-McDermid syndrome 606232 MONDO:0011652 Tags SV/CNV
Green SHANK3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.263 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Phelan-McDermid syndrome MIM#606232
Green SHANK3 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.590	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green SHANK3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green SHANK3 in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green SHANK3 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Red SHANK3 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Phelan-McDermid syndrome, MONDO:0011652 Phelan-McDermid syndrome, OMIM:606232
Red SHANK3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652
Amber SHANK3 in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Expert list Phenotypes Phelan-McDermid syndrome, MIM# 606232