LAMB1

laminin subunit beta 1
OMIM: 150240
PanelMode of inheritanceDetails
8 panels
R-numbers: R62
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 5, OMIM:615191, cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
R-numbers: R58
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 5, OMIM:615191, cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 5, OMIM:615191, Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 5, OMIM:615191
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 5, OMIM:615191
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 5 615191
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 5, OMIM:615191, Cystic leukoencephalopathy