COL4A2

collagen type IV alpha 2 chain
OMIM: 120090, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber COL4A2 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.195 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Brain small vessel disease 2, MIM#614483
Amber COL4A2 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.29 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Familial porencephaly MONDO:0020496
Red COL4A2 in Haematuria_Alport Level 2: Renal and urinary tract disorders Version 1.1 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brain small vessel disease 2, MIM#614483
Red COL4A2 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Brain small vessel disease 2, MIM# 614483
Amber COL4A2 in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cataract (MONDO:0005129), COL4A2-related
Green COL4A2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral Palsy Brain small vessel disease 2 MIM# 614483
Green COL4A2 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral Palsy MONDO#0006497, COL4A2-related Brain small vessel disease 2 MIM# 614483
Red COL4A2 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Red Expert list Phenotypes Brain small vessel disease 2 614483
Green COL4A2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cerebral Palsy MONDO#0006497, COL4A2-related Brain small vessel disease 2 MIM# 614483
Green COL4A2 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 Brain small vessel disease 2, MIM# 614483 familial porencephaly MONDO:0020496
Red COL4A2 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.143 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Brain small vessel disease 2, 614483
Green COL4A2 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature
Red COL4A2 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.0 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Stroke, hemorrhagic MIM#614519
Green COL4A2 in Fetal anomalies Version 1.313	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Brain small vessel disease 2, MIM# 614483 Porencephaly