COL4A2

collagen type IV alpha 2 chain
OMIM: 120090, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red COL4A2 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red Other Radboud University Medical Center, Nijmegen Phenotypes {Hemorrhage, intracerebral, susceptibility to}, 614519 {Hemorrhage, intracerebral, susceptibility to}
Green COL4A2 in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Phenotypes porencephaly infantile heiparesis, intracerebral haemorrhages Porencephaly 2 614483 {Hemorrhage, intracerebral, susceptibility to} 614519
Green COL4A2 in Adult onset leukodystrophy Level 2: Neurology Version 6.10 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Brain small vessel disease 2, OMIM:614483
Green COL4A2 in Malformations of cortical development Level 2: Neurology Version 7.39 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Brain small vessel disease 2, OMIM:614483 {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Red COL4A2 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	Unknown	Sources NHS GMS London South GLH Expert Review Red Expert Review
Red COL4A2 in Arthrogryposis Level 2: Neurology Version 9.31 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Expert Review
Green COL4A2 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.19 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Brain small vessel disease 2, OMIM:614483 {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Green COL4A2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes PORENCEPHALY 2
Green COL4A2 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PORENCEPHALY 2 614483
Green COL4A2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.159 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Porencephaly 2 614483
Green COL4A2 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519 PORENCEPHALY 2