LAMB1

laminin subunit beta 1
OMIM: 150240, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green LAMB1 in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 2.0

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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green LAMB1 in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 5, MIM# 615191
  • Leukoencephalopathy, adult-onset, MIM# 621424

Green LAMB1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Lissencephaly 5, MIM# 615191
  • Cystic leukoencephalopathy

Green LAMB1 in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cystic leukoencephalopathy

Green LAMB1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 5, 615191 (3)

Green LAMB1 in Fetal anomalies


Version 2.0

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 3.0

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 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 5 MIM#615191