Inherited white matter disorders
Gene: LAMB1Comment on list classification: Promoted to green after feedback from Arianna Tucci. 3 unrelated families with mutations reported in PMIDs. This is green on the Malformations of cortical development v1.116 and Hydrocephalus v1.2 gene panels.Created: 25 Jul 2017, 3 p.m.
Publications for gene: LAMB1 were set to 23472759; 25925986; 29888467
Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, OMIM:615191 to Lissencephaly 5, OMIM:615191; cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Publications for gene: LAMB1 were set to 23472759; 17525174; 25925986
Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, 615191 to Lissencephaly 5, OMIM:615191
Publications for LAMB1 were set to 23472759; 17525174; 25925986
Publications for LAMB1 were set to 23472759;17525174
Mode of inheritance for LAMB1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
LAMB1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
LAMB1 was created by ellenmcdonagh