ACTG1

actin gamma 1
OMIM: 102560, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green ACTG1 in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 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 2 (MIM#614583)
Green ACTG1 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.50	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Baraitser-Winter syndrome 2, MIM#614583
Green ACTG1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.72	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 2, MIM# 614583
Green ACTG1 in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Baraitser-Winter syndrome 2 MIM#614583 Deafness, autosomal dominant 20/26 MIM#604717
Green ACTG1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert Review Phenotypes Baraitser-Winter syndrome 2, MIM# 614583
Green ACTG1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ACTG1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 20/26, MIM# 604717
Green ACTG1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Baraitser-Winter syndrome 2, MIM#614583
Amber ACTG1 in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.80 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa MONDO:0019200, ACTG1-related
Green ACTG1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.82	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 20/26, MIM# 604717
Green ACTG1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal dominant Baraitser-Winter syndrome
Green ACTG1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME 2 BRWS2
Green ACTG1 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Baraitser-Winter syndrome 2, MIM#614583
Red ACTG1 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 Baraitser-Winter syndrome 2MIM#614583 Deafness, autosomal dominant 20/26 MIM#604717