LAMB1

laminin subunit beta 1
OMIM: 150240, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 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	1 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 1.21 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 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 0.127	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LAMB1 in Mendeliome Version 1.2302	1 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 0.540	0 reviews	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 1.63	1 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 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 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 0.143 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukodystrophy, MONDO:0019046, LAMB1-related 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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 5, 615191 (3)
Green LAMB1 in Fetal anomalies Version 1.313	1 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 1.1566	1 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 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 5, 615191 (3)