ACTB

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green ACTB in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Baraitser-Winter syndrome 1 (MIM#243310)
Green ACTB in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Baraitser-Winter syndrome 1, MIM#243310
Green ACTB in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Phenotypes Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Green ACTB in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Green ACTB in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Baraitser-Winter syndrome 1 MIM#243310
Green ACTB in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1, MIM# 243310
Green ACTB in Kabuki syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 0.15	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Green ACTB in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 ACTB-related neurodevelopment disorder
Green ACTB in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Green ACTB in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ACTB in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1, MIM# 243310 Dystonia, juvenile-onset, MIM# 607371
Amber ACTB in Phagocyte Defects Level 2: Immunological disorders Version 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1, MIM# 243310
Green ACTB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Baraitser-Winter syndrome 1, MIM# 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 ACTB-related neurodevelopment disorder
Green ACTB in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Baraitser-Winter syndrome 1, 243310 Dystonia, juvenile-onset, 607371
Red ACTB in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Neutrophil dysfunction and recurrent infection Baraitser-Winter syndrome
Green ACTB in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BRWS1 BARAITSER-WINTER SYNDROME 1
Green ACTB in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Becker nevus, somatic mosaic, MIM# 604919 Tags somatic
Green ACTB in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Baraitser-Winter syndrome 1, MIM#243310
Red ACTB in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red Phenotypes Baraitser-Winter syndrome Neutrophil dysfunction and recurrent infection
Green ACTB in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Syndromic thrombocytopaenia

ACTB

20 panels

Green ACTB in Lissencephaly and Band Heterotopia

Sources

Phenotypes

Green ACTB in Anophthalmia_Microphthalmia_Coloboma

Sources

Phenotypes

Green ACTB in Bleeding and Platelet Disorders

Sources

Phenotypes

Green ACTB in Bone Marrow Failure

Sources

Phenotypes

Green ACTB in Cerebral Palsy

Sources

Phenotypes

Green ACTB in Craniosynostosis

Sources

Phenotypes

Green ACTB in Kabuki syndrome

Sources

Green ACTB in Mendeliome

Sources

Phenotypes

Green ACTB in Genetic Epilepsy

Sources

Phenotypes

Green ACTB in Callosome

Sources

Green ACTB in Deafness_IsolatedAndComplex

Sources

Phenotypes

Amber ACTB in Phagocyte Defects

Sources

Phenotypes

Green ACTB in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green ACTB in Dystonia - complex

Sources

Phenotypes

Red ACTB in Additional findings_Paediatric

Sources

Phenotypes

Green ACTB in Clefting disorders

Sources

Phenotypes

Green ACTB in Mosaic skin disorders

Sources

Phenotypes

Tags

Green ACTB in Fetal anomalies

Sources

Phenotypes

Red ACTB in BabyScreen+ newborn screening

Sources

Phenotypes

Green ACTB in Transplant Co-Morbidity Superpanel

Sources

Phenotypes