LAMB1

laminin subunit beta 1
OMIM: 150240, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green LAMB1 in Cobblestone Malformations Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Lissencephaly 5, MIM# 615191
Green LAMB1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Lissencephaly 5, MIM# 615191
Green LAMB1 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LAMB1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 5, MIM# 615191 Cystic leukoencephalopathy Adult-onset leukoencephalopathy
Green LAMB1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LAMB1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Lissencephaly 5, MIM# 615191 Cystic leukoencephalopathy
Amber LAMB1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cystic leukoencephalopathy
Green LAMB1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Retinal Vascular Abnormality mild intellectual disability white matter lesions lower limb spasticity
Green LAMB1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 5, 615191 (3)
Red LAMB1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	Not set	Sources Genomics England PanelApp Expert Review Red Phenotypes Cerebral Malformation Disorders
Green LAMB1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 Lissencephaly 5, OMIM:615191
Green LAMB1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 5, 615191 (3)
Green LAMB1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 5, 615191 (3)